Stephen W. Scherer - Publications

Affiliations: 
Molecular and Medical Genetics University of Toronto, Toronto, ON, Canada 
Area:
Genetics, Neuroscience Biology, Mental Health

500 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, ... ... Scherer SW, et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 185: 4409-4427.e18. PMID 36368308 DOI: 10.1016/j.cell.2022.10.009  0.341
2022 Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, ... ... Scherer SW, et al. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Nature Communications. 13: 6463. PMID 36309498 DOI: 10.1038/s41467-022-34112-z  0.328
2022 Maihofer AX, Engchuan W, Huguet G, Klein M, MacDonald JR, Shanta O, Thiruvahindrapuram B, Jean-Louis M, Saci Z, Jacquemont S, Scherer SW, Ketema E, Aiello AE, Amstadter AB, Avdibegović E, et al. Rare copy number variation in posttraumatic stress disorder. Molecular Psychiatry. PMID 36131047 DOI: 10.1038/s41380-022-01776-4  0.331
2022 Lok S, Lau TNH, Trost B, Tong AHY, Wintle RF, Engstrom MD, Stacy E, Waits LP, Scrafford M, Scherer SW. Chromosomal-Level Reference Genome Assembly of the North American Wolverine (Gulo gulo luscus): A Resource for Conservation Genomics. G3 (Bethesda, Md.). PMID 35674384 DOI: 10.1093/g3journal/jkac138  0.307
2022 Teles E Silva AL, Glaser T, Griesi-Oliveira K, Corrêa-Velloso J, Wang JYT, da Silva Campos G, Ulrich H, Balan A, Zarrei M, Higginbotham EJ, Scherer SW, Passos-Bueno MR, Sertié AL. Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Translational Psychiatry. 12: 234. PMID 35668055 DOI: 10.1038/s41398-022-01997-9  0.303
2022 Evans DR, Qiao Y, Trost B, Calli K, Martell S, Jones SJM, Scherer SW, Lewis MES. Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous Variant. Genes. 13. PMID 35328024 DOI: 10.3390/genes13030470  0.332
2022 Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, ... ... Scherer SW, et al. Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. Npj Genomic Medicine. 7: 18. PMID 35288587 DOI: 10.1038/s41525-022-00288-y  0.332
2022 Tuncay IO, Parmalee NL, Khalil R, Kaur K, Kumar A, Jimale M, Howe JL, Goodspeed K, Evans P, Alzghoul L, Xing C, Scherer SW, Chahrour MH. Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants. Npj Genomic Medicine. 7: 13. PMID 35190550 DOI: 10.1038/s41525-022-00284-2  0.39
2022 Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, et al. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Human Mutation. PMID 35094443 DOI: 10.1002/humu.24332  0.333
2022 Liu Y, Lv Y, Zarrei M, Dong R, Yang X, Higginbotham EJ, Li Y, Zhao D, Song F, Yang Y, Zhang H, Wang Y, Scherer SW, Gai Z. Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay. Npj Genomic Medicine. 7: 1. PMID 35022430 DOI: 10.1038/s41525-021-00271-z  0.358
2021 Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM. Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. Npj Genomic Medicine. 6: 96. PMID 34795304 DOI: 10.1038/s41525-021-00263-z  0.334
2021 Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, Marshall CR, Srivastava S, ... ... Scherer SW, et al. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. Npj Genomic Medicine. 6: 91. PMID 34737294 DOI: 10.1038/s41525-021-00254-0  0.383
2021 Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, et al. Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes. Clinical Genetics. PMID 34664255 DOI: 10.1111/cge.14072  0.416
2021 Dhaliwal J, Qiao Y, Calli K, Martell S, Race S, Chijiwa C, Glodjo A, Jones S, Rajcan-Separovic E, Scherer SW, Lewis S. Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings. Genes. 12. PMID 34356069 DOI: 10.3390/genes12071053  0.329
2021 Pugsley K, Scherer SW, Bellgrove MA, Hawi Z. Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands. Molecular Psychiatry. PMID 34002022 DOI: 10.1038/s41380-021-01142-w  0.314
2021 Vorstman J, Scherer SW. What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders. Current Opinion in Genetics & Development. 68: 18-25. PMID 33454514 DOI: 10.1016/j.gde.2020.12.017  0.334
2020 Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, ... ... Scherer SW, et al. Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences. Frontiers in Genetics. 11: 957. PMID 33110418 DOI: 10.3389/fgene.2020.00957  0.36
2020 Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Joober R, Howe J, Scherer SW, Elsabbagh M. Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions. Journal of Genetic Counseling. PMID 32893416 DOI: 10.1002/Jgc4.1323  0.337
2020 Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, ... ... Scherer SW, et al. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature. PMID 32717741 DOI: 10.1038/S41586-020-2579-Z  0.46
2020 Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, ... ... Scherer SW, et al. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 32665711 DOI: 10.1038/S41593-020-0681-Z  0.315
2020 Cucinotta F, Ricciardello A, Turriziani L, Calabrese G, Briguglio M, Boncoddo M, Bellomo F, Tomaiuolo P, Martines S, Bruschetta M, La Fauci Belponer F, Di Bella T, Colombi C, Baccarin M, Picinelli C, ... ... Scherer SW, et al. FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family. Molecular Genetics & Genomic Medicine. e1373. PMID 32588496 DOI: 10.1002/Mgg3.1373  0.381
2020 Ross PJ, Mok RSF, Smith BS, Rodrigues DC, Mufteev M, Scherer SW, Ellis J. Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells. Molecular Autism. 11: 33. PMID 32398033 DOI: 10.1186/S13229-020-00333-6  0.42
2020 Bobyn A, Zarrei M, Zhu Y, Hoffman M, Brenner D, Resnick AC, Scherer SW, Gallo M. Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. Bmc Medical Genetics. 21: 92. PMID 32375678 DOI: 10.1186/S12881-020-01033-X  0.327
2020 Woodbury-Smith M, Zarrei M, Wei J, Thiruvahindrapuram B, O'Connor I, Paterson AD, Yuen RKC, Dastan J, Stavropoulos DJ, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Anagnostou E, ... Scherer SW, et al. Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 32372567 DOI: 10.1002/Ajmg.B.32785  0.453
2020 Woodbury-Smith MR, Paterson AD, Szatmari P, Scherer SW. Genome-wide association study of emotional empathy in children. Scientific Reports. 10: 7469. PMID 32366958 DOI: 10.1038/S41598-020-62693-6  0.377
2020 Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, et al. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. Genome Biology. 21: 102. PMID 32345345 DOI: 10.1186/S13059-020-02017-Z  0.329
2020 Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, ... ... Scherer SW, et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics. PMID 32317787 DOI: 10.1038/S41576-020-0231-2  0.422
2020 Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, ... ... Scherer SW, et al. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. American Journal of Human Genetics. PMID 32243864 DOI: 10.1016/J.Ajhg.2020.03.008  0.382
2020 Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Bruno R, Joober R, Howe J, Scherer SW, Elsabbagh M. Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning. Research in Developmental Disabilities. 100: 103605. PMID 32120048 DOI: 10.1016/J.Ridd.2020.103605  0.376
2020 Munn-Chernoff MA, Johnson EC, Chou YL, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, ... ... Scherer SW, et al. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology. e12880. PMID 32064741 DOI: 10.1111/Adb.12880  0.378
2020 Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, ... ... Scherer SW, et al. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32037394 DOI: 10.1038/S41436-020-0757-X  0.317
2020 Liu Y, Zhang Y, Zarrei M, Dong R, Yang X, Zhao D, Scherer SW, Gai Z. Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 31953991 DOI: 10.1002/Ajmg.B.32778  0.459
2019 Wassman ER, Ho KS, Bertrand D, Davis KW, Martin MM, Page S, Peiffer A, Prasad A, Serrano MA, Twede H, Vanzo R, Scherer SW, Uddin M, Hensel CH. Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders. Neurology. Genetics. 5: e378. PMID 32042908 DOI: 10.1212/Nxg.0000000000000378  0.404
2019 Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, ... ... Scherer SW, et al. Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. Npj Genomic Medicine. 4: 30. PMID 31839986 DOI: 10.1038/S41525-019-0104-9  0.448
2019 Hildebrandt MR, Reuter MS, Wei W, Tayebi N, Liu J, Sharmin S, Mulder J, Lesperance LS, Brauer PM, Mok RSF, Kinnear C, Piekna A, Romm A, Howe J, Pasceri P, ... ... Scherer SW, et al. Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation. Stem Cell Reports. PMID 31813827 DOI: 10.1016/J.Stemcr.2019.11.003  0.305
2019 D'Abate L, Walker S, Yuen RKC, Tammimies K, Buchanan JA, Davies RW, Thiruvahindrapuram B, Wei J, Brian J, Bryson SE, Dobkins K, Howe J, Landa R, Leef J, Messinger D, ... ... Scherer SW, et al. Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. Nature Communications. 10: 5519. PMID 31801954 DOI: 10.1038/S41467-019-13380-2  0.419
2019 Deng L, Lou H, Zhang X, Thiruvahindrapuram B, Lu D, Marshall CR, Liu C, Xie B, Xu W, Wong LP, Yew CW, Farhang A, Ong RT, Hoque MZ, Thuhairah AR, ... ... Scherer SW, et al. Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations. Bmc Genomics. 20: 842. PMID 31718558 DOI: 10.1186/S12864-019-6226-8  0.345
2019 da Silva Montenegro EM, Costa CS, Campos G, Scliar M, de Almeida TF, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. Autism Research : Official Journal of the International Society For Autism Research. PMID 31696658 DOI: 10.1002/Aur.2238  0.51
2019 Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, ... ... Scherer SW, et al. A large data resource of genomic copy number variation across neurodevelopmental disorders. Npj Genomic Medicine. 4: 26. PMID 31602316 DOI: 10.1038/S41525-019-0098-3  0.452
2019 Baskurt Z, Mastromatteo S, Gong J, Wintle RF, Scherer SW, Strug LJ. VikNGS: A C ++ Variant Integration Kit for Next Generation Sequencing Association Analysis. Bioinformatics (Oxford, England). PMID 31580400 DOI: 10.1093/Bioinformatics/Btz716  0.323
2019 Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Bruno R, Joober R, Howe J, Scherer SW, Elsabbagh M. Association between distress and knowledge among parents of autistic children. Plos One. 14: e0223119. PMID 31557237 DOI: 10.1371/Journal.Pone.0223119  0.309
2019 Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D'Abate L, Rodrigues DC, Yuen RKC, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, ... ... Scherer SW, et al. Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. Biological Psychiatry. PMID 31540669 DOI: 10.1016/J.Biopsych.2019.07.014  0.374
2019 Trost B, Walker S, Haider SA, Sung WWL, Pereira S, Phillips CL, Higginbotham EJ, Strug LJ, Nguyen C, Raajkumar A, Szego MJ, Marshall CR, Scherer SW. Impact of DNA source on genetic variant detection from human whole-genome sequencing data. Journal of Medical Genetics. PMID 31515274 DOI: 10.1136/Jmedgenet-2019-106281  0.326
2019 Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC, Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J, Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S, et al. Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nature Communications. 10: 3529. PMID 31388001 DOI: 10.1038/S41467-019-11437-W  0.434
2019 Frenkel S, Bernstein CN, Jin YW, Sargent M, Kuang Q, Jiang W, Wei J, Thiruvahindrapuram B, Scherer SW, Hu P. Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. Data in Brief. 25: 104203. PMID 31338399 DOI: 10.1016/J.Dib.2019.104203  0.37
2019 Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, ... ... Scherer SW, et al. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain : a Journal of Neurology. PMID 31327001 DOI: 10.1093/Brain/Awz198  0.419
2019 Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, et al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clinical Epigenetics. 11: 103. PMID 31311581 DOI: 10.1186/S13148-019-0684-3  0.458
2019 Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, ... ... Scherer SW, et al. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. Bmc Medical Genomics. 12: 105. PMID 31288860 DOI: 10.1186/S12920-019-0555-Y  0.386
2019 Frenkel S, Bernstein CN, Sargent M, Kuang Q, Jiang W, Wei J, Thiruvahindrapuram B, Spriggs E, Scherer SW, Hu P. Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease. Plos One. 14: e0217846. PMID 31185018 DOI: 10.1371/Journal.Pone.0217846  0.401
2019 Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31182824 DOI: 10.1038/S41436-019-0554-6  0.386
2019 Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, ... Scherer SW, et al. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease. American Journal of Human Genetics. PMID 31104771 DOI: 10.1016/J.Ajhg.2019.04.007  0.391
2019 Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW. Expanding the neurodevelopmental phenotypes of individuals with de novo variants. Npj Genomic Medicine. 4: 9. PMID 31044088 DOI: 10.1038/S41525-019-0083-X  0.427
2019 van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, ... ... Scherer SW, et al. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in . The New England Journal of Medicine. 380: 1433-1441. PMID 30970188 DOI: 10.1056/Nejmoa1806627  0.403
2019 Zaslavsky K, Zhang WB, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, ... ... Scherer SW, et al. SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons. Nature Neuroscience. 22: 556-564. PMID 30911184 DOI: 10.1038/S41593-019-0365-8  0.352
2019 Hoffman M, Gillmor A, Kunz DJ, Johnston MJ, Nikolic A, Narta K, Zarrei M, King JC, Ellestad K, Dang NH, Cavalli FMG, Kushida M, Coutinho FJ, Zhu Y, Luu B, ... ... Scherer SW, et al. Intratumoral genetic and functional heterogeneity in pediatric glioblastoma. Cancer Research. PMID 30877103 DOI: 10.1158/0008-5472.Can-18-3441  0.356
2019 Davis JM, Heft I, Scherer SW, Sikela JM. A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. The American Journal of Psychiatry. appiajp201818080993. PMID 30764650 DOI: 10.1176/Appi.Ajp.2018.18080993  0.338
2019 Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, ... ... Scherer SW, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 12: 427-429. PMID 30759379 DOI: 10.1016/j.stemcr.2019.01.008  0.66
2019 Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, ... ... Scherer SW, et al. or human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. Elife. 8. PMID 30747104 DOI: 10.7554/Elife.40092  0.361
2019 Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, ... Scherer SW, et al. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. Journal of Neurodevelopmental Disorders. 11: 3. PMID 30732576 DOI: 10.1186/S11689-019-9263-3  0.499
2019 Baribeau DA, Dupuis A, Paton TA, Hammill C, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, et al. Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. Translational Psychiatry. 9: 72. PMID 30718456 DOI: 10.1038/S41398-019-0382-0  0.314
2019 Rezazadeh A, Uddin M, Snead OC, Lira V, Silberberg A, Weiss S, Donner EJ, Zak M, Bradbury L, Scherer SW, Fasano A, Andrade DM. STXBP1 encephalopathy is associated with awake bruxism. Epilepsy & Behavior : E&B. 92: 121-124. PMID 30654231 DOI: 10.1016/J.Yebeh.2018.12.018  0.33
2019 Burton C, Zarrei M, Enghuan W, Merico D, MacDonald J, Xiao B, Paterson A, Strug L, Marshall C, Crosbie J, Arnold P, Schachar R, Scherer S. Copy Number Variants In Brain-Related Genes Are Associated With Neuropsychiatric Traits In Childhood European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2017.08.078  0.419
2018 Alkhater RA, Scherer SW, Minassian BA, Walker S. deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome. Annals of Clinical and Translational Neurology. 5: 1617-1621. PMID 30564627 DOI: 10.1002/Acn3.677  0.417
2018 Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, ... ... Scherer SW, et al. Rare Copy Number Variation In an Extremely Impulsively Violent Males. Genes, Brain, and Behavior. e12536. PMID 30411505 DOI: 10.1111/Gbb.12536  0.471
2018 Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, ... ... Scherer SW, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. PMID 30392976 DOI: 10.1016/J.Stemcr.2018.10.003  0.706
2018 Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, et al. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30293988 DOI: 10.1038/S41436-018-0323-Y  0.406
2018 Hoang N, Buchanan JA, Scherer SW. Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders. Npj Genomic Medicine. 3: 27. PMID 30275975 DOI: 10.1038/S41525-018-0066-3  0.319
2018 Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, ... ... Scherer SW, et al. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30232381 DOI: 10.1038/S41436-018-0260-9  0.323
2018 Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, ... ... Scherer SW, et al. Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. Science (New York, N.Y.). 361. PMID 30166462 DOI: 10.1126/Science.Aam8419  0.343
2018 Uddin KMF, Amin R, Majumder SN, Aleem MA, Rahaman A, Dity NJ, Baqui MDA, Akter H, Rahman MM, Woodbury-Smith M, Scherer S, Uddin M. An nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). Clinical Case Reports. 6: 1426-1430. PMID 30147876 DOI: 10.1002/Ccr3.1595  0.317
2018 Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B. Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. Journal of Medical Genetics. PMID 30007940 DOI: 10.1136/Jmedgenet-2018-105328  0.365
2018 Selvanayagam T, Walker S, Gazzellone MJ, Kellam B, Cytrynbaum C, Stavropoulos DJ, Li P, Birken CS, Hamilton J, Weksberg R, Scherer SW. Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. European Journal of Human Genetics : Ejhg. PMID 29976977 DOI: 10.1038/S41431-018-0189-0  0.316
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Scherer SW, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.389
2018 Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P. A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. Journal of Neurodevelopmental Disorders. 10: 20. PMID 29890955 DOI: 10.1186/S11689-018-9238-9  0.47
2018 Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA. Chorea-acanthocytosis: Homozygous 1-kb deletion in detected by whole-genome sequencing. Neurology. Genetics. 4: e242. PMID 29845114 DOI: 10.1212/Nxg.0000000000000242  0.354
2018 Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, ... ... Scherer SW, et al. Paternally inherited cis-regulatory structural variants are associated with autism. Science (New York, N.Y.). 360: 327-331. PMID 29674594 DOI: 10.1126/Science.Aan2261  0.446
2018 Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, ... ... Scherer SW, et al. Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of-related disorders. Journal of Medical Genetics. PMID 29599419 DOI: 10.1136/Jmedgenet-2017-105222  0.363
2018 Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, et al. Improving imputation in disease-relevant regions: lessons from cystic fibrosis. Npj Genomic Medicine. 3: 8. PMID 29581887 DOI: 10.1038/S41525-018-0047-6  0.378
2018 Woodbury-Smith M, Scherer SW. Progress in the genetics of autism spectrum disorder. Developmental Medicine and Child Neurology. PMID 29574884 DOI: 10.1111/Dmcn.13717  0.421
2018 Zarrei M, Hicks GG, Reynolds JN, Thiruvahindrapuram B, Engchuan W, Pind M, Lamoureux S, Wei J, Wang Z, Marshall CR, Wintle RF, Chudley AE, Scherer SW. Copy number variation in fetal alcohol spectrum disorder. Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire. 1-6. PMID 29533680 DOI: 10.1139/Bcb-2017-0241  0.434
2018 Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, ... ... Scherer SW, et al. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Molecular Psychiatry. PMID 29467497 DOI: 10.1038/S41380-018-0025-5  0.398
2018 Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, ... ... Scherer SW, et al. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. European Journal of Human Genetics : Ejhg. PMID 29453418 DOI: 10.1038/S41431-018-0114-6  0.428
2018 Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3 (Bethesda, Md.). PMID 29438995 DOI: 10.1534/G3.118.200080  0.348
2018 Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, ... ... Scherer SW, et al. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne. 190: E126-E136. PMID 29431110 DOI: 10.1503/Cmaj.171151  0.329
2018 Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, ... ... Scherer SW, et al. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102: 278-295. PMID 29395074 DOI: 10.1016/J.Ajhg.2018.01.006  0.468
2018 Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 1-11. PMID 29307321 DOI: 10.1017/Thg.2017.69  0.479
2018 Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, ... Scherer SW, et al. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. American Journal of Human Genetics. 102: 142-155. PMID 29304372 DOI: 10.1016/J.Ajhg.2017.12.007  0.418
2018 Crosbie J, Burton CL, Zarrei M, Merico D, Engchuan B, McDonald J, Marshall C, Arnold PD, Scherer S, Schachar R. 30.4 Exploring Genetic Variation in ADHD Quantitative Traits and Executive Function Endophenotypes Using Rare Copy Number Variants Journal of the American Academy of Child & Adolescent Psychiatry. 57: S316-S317. DOI: 10.1016/J.Jaac.2018.07.791  0.334
2018 Chaix M, Akinrinade O, Yao R, Lafreniere-Roula M, Laan RVd, Tran G, Sung W, Thiruvahindrapuram B, Diaz LA, Mondal T, Lougheed J, Smythe J, Gordon E, Bergin L, Oechslin E, ... ... Scherer S, et al. Genomic Architecture Of Tetralogy Of Fallot And Genomic Predictors Of Adverse Right Ventricular Remodelling Canadian Journal of Cardiology. 34. DOI: 10.1016/J.Cjca.2018.07.328  0.309
2017 Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialogues in Clinical Neuroscience. 19: 353-371. PMID 29398931  0.329
2017 Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, ... ... Scherer SW, et al. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurology. Genetics. 3: e199. PMID 29264391 DOI: 10.1212/Nxg.0000000000000199  0.318
2017 Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT. Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. Npj Genomic Medicine. 2: 28. PMID 29263838 DOI: 10.1038/s41525-017-0031-6  0.338
2017 Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. Npj Genomic Medicine. 2: 19. PMID 29263831 DOI: 10.1038/S41525-017-0021-8  0.387
2017 de Jesús Ascencio-Montiel I, Pinto D, Parra EJ, Valladares-Salgado A, Cruz M, Scherer SW. Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. Scientific Reports. 7: 17105. PMID 29213072 DOI: 10.1038/S41598-017-17361-7  0.402
2017 Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. Genome Medicine. 9: 105. PMID 29187259 DOI: 10.1186/S13073-017-0488-Z  0.684
2017 Zhang Y, Liu Y, Zarrei M, Tong W, Dong R, Wang Y, Zhang H, Yang X, MacDonald JR, Uddin M, Scherer SW, Gai Z. Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 29152845 DOI: 10.1002/Ajmg.B.32608  0.445
2017 Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. Molecular Autism. 8: 59. PMID 29152164 DOI: 10.1186/S13229-017-0175-3  0.433
2017 Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA. Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. Neurology. Genetics. 3: e189. PMID 28955728 DOI: 10.1212/Nxg.0000000000000189  0.378
2017 Baribeau DA, Dupuis A, Paton TA, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Lerch J, Anagnostou E. Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders. Scientific Reports. 7: 11618. PMID 28912494 DOI: 10.1038/S41598-017-10821-0  0.313
2017 Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. American Journal of Medical Genetics. Part A. PMID 28898547 DOI: 10.1002/Ajmg.A.38354  0.444
2017 Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American Journal of Medical Genetics. Part A. PMID 28840640 DOI: 10.1002/Ajmg.A.38352  0.7
2017 Hoang N, Cytrynbaum C, Scherer SW. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Patient Education and Counseling. PMID 28803755 DOI: 10.1016/J.Pec.2017.07.029  0.415
2017 Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, ... ... Scherer SW, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771251 DOI: 10.1038/Gim.2017.119  0.714
2017 Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, ... ... Scherer SW, et al. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771244 DOI: 10.1038/Gim.2017.83  0.5
2017 Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A. Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. International Journal of Molecular Sciences. 18. PMID 28758966 DOI: 10.3390/Ijms18081665  0.461
2017 Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, ... ... Scherer SW, et al. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. The American Journal of Psychiatry. appiajp201716121417. PMID 28750581 DOI: 10.1176/Appi.Ajp.2017.16121417  0.389
2017 Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, ... ... Scherer SW, et al. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience. PMID 28714951 DOI: 10.1038/Nn.4598  0.439
2017 Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, ... ... Scherer SW, et al. The clinical impact of copy number variants in inherited bone marrow failure syndromes. Npj Genomic Medicine. 2. PMID 28690869 DOI: 10.1038/S41525-017-0019-2  0.403
2017 Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, ... ... Scherer SW, et al. Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Molecular Autism. 8: 31. PMID 28670437 DOI: 10.1186/S13229-017-0136-X  0.453
2017 Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW. Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. Npj Genomic Medicine. 2. PMID 28649445 DOI: 10.1038/S41525-017-0020-9  0.502
2017 Bassett AS, Scherer SW. Copy Number Variation in Tourette Syndrome. Neuron. 94: 1041-1043. PMID 28641101 DOI: 10.1016/J.Neuron.2017.06.017  0.362
2017 Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA. Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. Neurology. Genetics. 3: e156. PMID 28626794 DOI: 10.1212/Nxg.0000000000000156  0.346
2017 Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, et al. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology. Genetics. 3: e148. PMID 28589176 DOI: 10.1212/Nxg.0000000000000148  0.306
2017 Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, ... ... Scherer SW, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. American Journal of Human Genetics. 100: 773-788. PMID 28475860 DOI: 10.1016/J.Ajhg.2017.04.004  0.421
2017 Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ. A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28471434 DOI: 10.1038/Gim.2017.47  0.322
2017 Butcher NJ, Merico D, Zarrei M, Ogura L, Marshall CR, Chow EWC, Lang AE, Scherer SW, Bassett AS. Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. Plos One. 12: e0173944. PMID 28430790 DOI: 10.1371/Journal.Pone.0173944  0.315
2017 Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. American Journal of Medical Genetics. Part A. PMID 28371330 DOI: 10.1002/Ajmg.A.38176  0.417
2017 C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, ... ... Scherer SW, et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience. PMID 28263302 DOI: 10.1038/Nn.4524  0.514
2017 Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RK, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, ... ... Scherer SW, et al. De novo genome and transcriptome assembly of the Canadian beaver (Castor canadensis). G3 (Bethesda, Md.). PMID 28087693 DOI: 10.1534/G3.116.038208  0.336
2016 Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, Leung GKC, Yeung KS, Chau AKT, Lowther C, Scherer SW, Marshall CR, Bassett AS, Chung BHY. De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients. Npj Genomic Medicine. 1: 16033. PMID 29263819 DOI: 10.1038/Npjgenmed.2016.33  0.453
2016 Scherer SW. Genomic medicine goes mainstream. Npj Genomic Medicine. 1: 15001. PMID 29263800 DOI: 10.1038/Npjgenmed.2015.1  0.316
2016 Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, ... ... Scherer SW, et al. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. Npj Genomic Medicine. 1. PMID 28567303 DOI: 10.1038/Npjgenmed.2015.12  0.449
2016 Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. Clinical Genetics. PMID 27874174 DOI: 10.1111/Cge.12924  0.368
2016 Kwan V, Meka DP, White SH, Hung CL, Holzapfel NT, Walker S, Murtaza N, Unda BK, Schwanke B, Yuen RK, Habing K, Milsom C, Hope KJ, Truant R, Scherer SW, et al. DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. Cell Reports. 17: 1892-1904. PMID 27829159 DOI: 10.1016/J.Celrep.2016.10.047  0.368
2016 Gazzellone MJ, Zarrei M, Burton CL, Walker S, Uddin M, Shaheen SM, Coste J, Rajendram R, Schachter RJ, Colasanto M, Hanna GL, Rosenberg DR, Soreni N, Fitzgerald KD, Marshall CR, ... ... Scherer SW, et al. Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. Journal of Neurodevelopmental Disorders. 8: 36. PMID 27777633 DOI: 10.1186/S11689-016-9170-9  0.423
2016 Abu-Elmagd M, Assidi M, Dallol A, Buhmeida A, Pushparaj PN, Kalamegam G, Al-Hamzi E, Shay JW, Scherer SW, Agarwal A, Budowle B, Gari M, Chaudhary A, Abuzenadah A, Al-Qahtani M. The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights. Bmc Genomics. 17: 747. PMID 27766952 DOI: 10.1186/S12864-016-3085-4  0.342
2016 Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, ... ... Scherer SW, et al. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. American Journal of Medical Genetics. Part A. PMID 27759917 DOI: 10.1002/Ajmg.A.38021  0.453
2016 Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. American Journal of Medical Genetics. Part A. PMID 27531570 DOI: 10.1002/Ajmg.A.37845  0.357
2016 Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, ... ... Scherer SW, et al. Genome-wide characteristics of de novo mutations in autism. Npj Genomic Medicine. 1: 160271-1602710. PMID 27525107 DOI: 10.1038/Npjgenmed.2016.27  0.433
2016 Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP. Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Journal of Medical Genetics. PMID 27489308 DOI: 10.1136/Jmedgenet-2016-103818  0.69
2016 Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten H, Carracedo A, ... ... Scherer SW, et al. Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) Bmc Genomics. 17: 487-487. PMID 27454254 DOI: 10.1186/S12864-016-2858-0  0.315
2016 Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. American Journal of Medical Genetics. Part A. PMID 27374371 DOI: 10.1002/Ajmg.A.37819  0.419
2016 Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, ... ... Scherer SW, et al. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Scientific Reports. 6: 28663. PMID 27363808 DOI: 10.1038/Srep28663  0.452
2016 Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. American Journal of Medical Genetics. Part A. PMID 27311965 DOI: 10.1002/Ajmg.A.37802  0.66
2016 Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, ... ... Scherer SW, et al. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry. PMID 27240531 DOI: 10.1038/Mp.2016.84  0.47
2016 Zurek AA, Kemp SW, Aga Z, Walker S, Milenkovic M, Ramsey AJ, Sibille E, Scherer SW, Orser BA. α5GABAA receptor deficiency causes autism-like behaviors. Annals of Clinical and Translational Neurology. 3: 392-8. PMID 27231709 DOI: 10.1002/Acn3.303  0.355
2016 Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, ... ... Scherer SW, et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195815 DOI: 10.1038/Gim.2016.54  0.681
2016 Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, ... ... Scherer SW, et al. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Molecular Psychiatry. PMID 27166760 DOI: 10.1038/Mp.2016.61  0.424
2016 Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, ... ... Scherer SW, et al. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Journal of Medical Genetics. PMID 27073233 DOI: 10.1136/Jmedgenet-2015-103621  0.406
2016 Yong RY, Mustaffa SB, Wasan PS, Sheng L, Marshall CR, Scherer SW, Teo YY, Yap EP. Complex Copy Number Variation Of Amy1 Does not Associate With Obesity in Two East Asian Cohorts. Human Mutation. PMID 27068483 DOI: 10.1002/Humu.22996  0.371
2016 Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26978485 DOI: 10.1002/Ajmg.B.32416  0.452
2016 Boon-Peng H, Mat Jusoh JA, Marshall CR, Majid F, Danuri N, Basir F, Thiruvahindrapuram B, Scherer SW, Yusoff K. Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. Plos One. 11: e0148755. PMID 26930585 DOI: 10.1371/Journal.Pone.0148755  0.389
2016 Scherer SW, Vincent JB. Biomarkers for autism spectrum disorders European Neuropsychopharmacology. 26. DOI: 10.1016/S0924-977X(16)30934-8  0.44
2015 Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. Pediatrics. PMID 26684475 DOI: 10.1542/Peds.2015-2672  0.323
2015 Costain G, Lionel AC, Ogura L, Marshall CR, Scherer SW, Silversides CK, Bassett AS. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. International Journal of Cardiology. 204: 115-121. PMID 26655555 DOI: 10.1016/J.Ijcard.2015.11.127  0.683
2015 Thapar A, Martin J, Mick E, Arias Vásquez A, Langley K, Scherer SW, Schachar R, Crosbie J, Williams N, Franke B, Elia J, Glessner J, Hakonarson H, Owen MJ, Faraone SV, et al. Psychiatric gene discoveries shape evidence on ADHD's biology. Molecular Psychiatry. PMID 26573769 DOI: 10.1038/Mp.2015.163  0.414
2015 Costain G, Roche SL, Scherer SW, Silversides CK, Bassett AS. Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease. International Journal of Cardiology. 203: 516-518. PMID 26551885 DOI: 10.1016/J.Ijcard.2015.10.216  0.309
2015 Tammimies K, Fernandez BA, Walker S, Thiruvahindrapuram B, Kaur G, Lionel AC, Roberts W, Weksberg R, Howe JL, Uddin M, Yuen RK, Wang Z, Szatmari P, Whitten K, Vardy C, ... ... Scherer SW, et al. High resolution genomic analyses of a clinically defined autism spectrum disorder cohort. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 76. PMID 26531530 DOI: 10.1016/J.Ijdevneu.2015.04.208  0.705
2015 Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, ... ... Scherer SW, et al. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nature Communications. 6: 8718. PMID 26522830 DOI: 10.1038/Ncomms9718  0.415
2015 Merico D, Zarrei M, Costain G, Ogura L, Alipanahi B, Gazzellone MJ, Butcher NJ, Thiruvahindrapuram B, Nalpathamkalam T, Chow EW, Andrade DM, Frey BJ, Marshall CR, Scherer SW, Bassett AS. Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda, Md.). 5: 2453-61. PMID 26384369 DOI: 10.1534/G3.115.021345  0.439
2015 Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, ... ... Scherer SW, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Jama. 314: 895-903. PMID 26325558 DOI: 10.1001/Jama.2015.10078  0.721
2015 Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW. Clinically relevant copy number variations detected in cerebral palsy. Nature Communications. 6: 7949. PMID 26236009 DOI: 10.1038/Ncomms8949  0.411
2015 Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, Hall DA, Dell SD, Kim RH. Whole Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda, Md.). PMID 26139845 DOI: 10.1534/G3.115.019851  0.406
2015 Buchanan JA, Chitayat D, Kolomietz E, Lee HC, Scherer SW, Speevak MD, Sroka H, Stavropoulos DJ. Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus. Journal of Medical Genetics. PMID 26041758 DOI: 10.1136/Jmedgenet-2015-103223  0.357
2015 Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, ... ... Scherer SW, et al. Microdeletions of ELP4 are Associated with Language Impairment, Autism Spectrum Disorder and Mental Retardation. Human Mutation. PMID 26010655 DOI: 10.1002/Humu.22816  0.442
2015 Uddin M, Codner D, Hasan SM, Scherer SW, O'Rielly DD, Rahman P. Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways. Scientific Reports. 5: 10314. PMID 25980808 DOI: 10.1038/Srep10314  0.367
2015 Abu-Elmagd M, Assidi M, Schulten HJ, Dallol A, Pushparaj P, Ahmed F, Scherer SW, Al-Qahtani M. Individualized medicine enabled by genomics in Saudi Arabia. Bmc Medical Genomics. 8: S3. PMID 25951871 DOI: 10.1186/1755-8794-8-S1-S3  0.318
2015 Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. Bmc Genomics. 16: S12. PMID 25923536 DOI: 10.1186/1471-2164-16-S1-S12  0.383
2015 Liu Y, Zhang Y, Zhao D, Dong R, Yang X, Tammimies K, Uddin M, Scherer SW, Gai Z. Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 258-64. PMID 25921429 DOI: 10.1002/Ajmg.B.32306  0.406
2015 Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB. CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. Journal of Child Neurology. PMID 25895915 DOI: 10.1177/0883073815579708  0.411
2015 Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Human Mutation. 36: 689-93. PMID 25884337 DOI: 10.1002/Humu.22800  0.745
2015 Rucker JJ, Tansey KE, Rivera M, Pinto D, Cohen-Woods S, Uher R, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Barnes MR, Preisig M, Mors O, ... ... Scherer SW, et al. Phenotypic Association Analyses with Copy Number Variation in Recurrent Depressive Disorder. Biological Psychiatry. PMID 25861698 DOI: 10.1016/J.Biopsych.2015.02.025  0.387
2015 Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review. American Journal of Medical Genetics. Part A. 167: 1381-5. PMID 25851617 DOI: 10.1002/Ajmg.A.37050  0.482
2015 Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, ... ... Scherer SW, et al. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain : a Journal of Neurology. 138: 1505-17. PMID 25808372 DOI: 10.1093/Brain/Awv057  0.337
2015 Engchuan W, Dhindsa K, Lionel AC, Scherer SW, Chan JH, Merico D. Performance of case-control rare copy number variation annotation in classification of autism. Bmc Medical Genomics. 8: S7. PMID 25783485 DOI: 10.1186/1755-8794-8-S1-S7  0.71
2015 Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nature Reviews. Genetics. 16: 172-83. PMID 25645873 DOI: 10.1038/Nrg3871  0.397
2015 Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, ... ... Scherer SW, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine. 21: 185-91. PMID 25621899 DOI: 10.1038/Nm.3792  0.468
2015 Meyer M, Reimand J, Lan X, Head R, Zhu X, Kushida M, Bayani J, Pressey JC, Lionel AC, Clarke ID, Cusimano M, Squire JA, Scherer SW, Bernstein M, Woodin MA, et al. Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity. Proceedings of the National Academy of Sciences of the United States of America. 112: 851-6. PMID 25561528 DOI: 10.1073/pnas.1320611111  0.675
2015 Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Developmental Cell. 32: 31-42. PMID 25556659 DOI: 10.1016/J.Devcel.2014.11.031  0.318
2015 Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science (New York, N.Y.). 347: 1254806. PMID 25525159 DOI: 10.1126/Science.1254806  0.39
2015 Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, ... ... Scherer SW, et al. Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Human Genetics. 134: 191-201. PMID 25432440 DOI: 10.1007/S00439-014-1513-6  0.746
2015 Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 149-57. PMID 25077648 DOI: 10.1038/Gim.2014.83  0.69
2015 Warnica W, Merico D, Costain G, Alfred SE, Wei J, Marshall CR, Scherer SW, Bassett AS. Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biological Psychiatry. 77: 158-66. PMID 25034949 DOI: 10.1016/J.Biopsych.2014.05.011  0.341
2015 Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. European Journal of Human Genetics : Ejhg. 23: 310-6. PMID 24961627 DOI: 10.1038/Ejhg.2014.112  0.395
2015 Waespe N, Dhanraj S, Wahala M, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez C, Yanofsky R, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, ... ... Scherer SW, et al. Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes Blood. 126: 2416-2416. DOI: 10.1182/Blood.V126.23.2416.2416  0.43
2015 Meyn M, Monfared N, Marshall CR, Merico D, Stavropoulos DJ, Hayeems RZ, Szego M, Jobling R, Girdea M, Bader GD, Brudno M, Cohn RD, Scherer SW, Shaul RZ, Shuman C, et al. MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children Journal of Medical Genetics. 52: A3.2-A4. DOI: 10.1136/Jmedgenet-2015-103578.8  0.382
2015 Marshall CR, Stavropoulos DJ, Jobling R, Merico D, Bowdin S, Monfared N, Meyn M, Szego M, Shaul RZ, Thiruvahindrapuram B, Pellecchia G, Nalpathamkalam T, Brudno M, Girdea M, Hayeems RZ, ... ... Scherer SW, et al. MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine Journal of Medical Genetics. 52: A12.1-A12. DOI: 10.1136/Jmedgenet-2015-103578.31  0.419
2015 Lowther C, Speevak M, Armour C, Goh E, Graham G, Li C, Zeesman S, Nowaczyk MJ, Schultz L, Morra A, Nicolson R, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, ... ... Scherer SW, et al. MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations Journal of Medical Genetics. 52: A9.1-A9. DOI: 10.1136/Jmedgenet-2015-103578.23  0.717
2014 Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, ... ... Scherer SW, et al. A high-resolution copy-number variation resource for clinical and population genetics. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25503493 DOI: 10.1038/Gim.2014.178  0.708
2014 Mowjoodi A, Paton TA, Scherer SW. Discrimination of SNPs in GC-rich regions using a modified hydrolysis probe chemistry protocol. Biotechniques. 57: 313-6. PMID 25495732 DOI: 10.2144/000114240  0.303
2014 Merikangas AK, Segurado R, Heron EA, Anney RJ, Paterson AD, Cook EH, Pinto D, Scherer SW, Szatmari P, Gill M, Corvin AP, Gallagher L. The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Molecular Psychiatry. PMID 25421404 DOI: 10.1038/Mp.2014.150  0.468
2014 Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, ... ... Scherer SW, et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Molecular Autism. 5: 34. PMID 25392729 DOI: 10.1186/2040-2392-5-34  0.358
2014 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Scherer SW, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772  0.4
2014 Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, ... Scherer SW, et al. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology. 76: 758-64. PMID 25223753 DOI: 10.1002/Ana.24274  0.316
2014 Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Human Mutation. 35: 1295-300. PMID 25196122 DOI: 10.1002/Humu.22683  0.394
2014 Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Scherer SW, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/Journal.Pgen.1004580  0.405
2014 Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, ... Scherer SW, et al. Copy number variation in Han Chinese individuals with autism spectrum disorder. Journal of Neurodevelopmental Disorders. 6: 34. PMID 25170348 DOI: 10.1186/1866-1955-6-34  0.739
2014 Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, ... ... Scherer SW, et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genetics. PMID 25131214 DOI: 10.1111/Cge.12482  0.447
2014 McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, ... ... Scherer SW, et al. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. Journal of the American Academy of Child and Adolescent Psychiatry. 53: 910-9. PMID 25062598 DOI: 10.1016/J.Jaac.2014.04.022  0.432
2014 Mokhtar SS, Marshall CR, Phipps ME, Thiruvahindrapuram B, Lionel AC, Scherer SW, Peng HB. Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. Plos One. 9: e100371. PMID 24956385 DOI: 10.1371/Journal.Pone.0100371  0.717
2014 Martin J, Cooper M, Hamshere ML, Pocklington A, Scherer SW, Kent L, Gill M, Owen MJ, Williams N, O'Donovan MC, Thapar A, Holmans P. Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. Journal of the American Academy of Child and Adolescent Psychiatry. 53: 761-70.e26. PMID 24954825 DOI: 10.1016/J.Jaac.2014.03.004  0.391
2014 Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, ... ... Scherer SW, et al. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics. 46: 826-36. PMID 24952745 DOI: 10.1038/Ng.3014  0.357
2014 Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 147: 595-598.e5. PMID 24941021 DOI: 10.1053/J.Gastro.2014.06.009  0.35
2014 Deng L, Hoh BP, Lu D, Fu R, Phipps ME, Li S, Nur-Shafawati AR, Hatin WI, Ismail E, Mokhtar SS, Jin L, Zilfalil BA, Marshall CR, Scherer SW, Al-Mulla F, et al. The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia. Human Genetics. 133: 1169-85. PMID 24916469 DOI: 10.1007/S00439-014-1459-8  0.346
2014 Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, ... ... Scherer SW, et al. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. American Journal of Human Genetics. 94: 809-17. PMID 24906018 DOI: 10.1016/J.Ajhg.2014.05.003  0.396
2014 Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nature Genetics. 46: 742-7. PMID 24859339 DOI: 10.1038/Ng.2980  0.414
2014 Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, ... Scherer SW, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. Journal of Neurodevelopmental Disorders. 6: 9. PMID 24834135 DOI: 10.1186/1866-1955-6-9  0.734
2014 Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS. Adult neuropsychiatric expression and familial segregation of 2q13 duplications. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 165: 337-44. PMID 24807792 DOI: 10.1002/Ajmg.B.32236  0.744
2014 Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, ... ... Scherer SW, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics. 94: 677-94. PMID 24768552 DOI: 10.1016/J.Ajhg.2014.03.018  0.451
2014 Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, ... ... Scherer SW, et al. Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Molecular Autism. 5: 28. PMID 24720851 DOI: 10.1186/2040-2392-5-28  0.495
2014 Noor A, Lionel AC, Cohen-Woods S, Moghimi N, Rucker J, Fennell A, Thiruvahindrapuram B, Kaufman L, Degagne B, Wei J, Parikh SV, Muglia P, Forte J, Scherer SW, Kennedy JL, et al. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 165: 303-13. PMID 24700553 DOI: 10.1002/Ajmg.B.32232  0.748
2014 Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M. Outfoxed by RBFOX1-a caution about ascertainment bias. American Journal of Medical Genetics. Part A. 164: 1411-8. PMID 24664471 DOI: 10.1002/Ajmg.A.36458  0.707
2014 Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Adult expression of a 3q13.31 microdeletion. Molecular Cytogenetics. 7: 23. PMID 24650298 DOI: 10.1186/1755-8166-7-23  0.714
2014 Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics. 15: 117-27. PMID 24643514 DOI: 10.1007/S10048-014-0394-0  0.733
2014 Mack SC, Witt H, Piro RM, Gu L, Zuyderduyn S, Stütz AM, Wang X, Gallo M, Garzia L, Zayne K, Zhang X, Ramaswamy V, Jäger N, Jones DT, Sill M, ... ... Scherer SW, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 506: 445-50. PMID 24553142 DOI: 10.1038/Nature13108  0.349
2014 Yuen RK, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, Marshall CR, Jarvi KA, Kolomietz E, Scherer SW. Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis. Fertility and Sterility. 101: 1079-1085.e3. PMID 24462061 DOI: 10.1016/J.Fertnstert.2013.12.027  0.326
2014 Anagnostou E, Zwaigenbaum L, Szatmari P, Fombonne E, Fernandez BA, Woodbury-Smith M, Brian J, Bryson S, Smith IM, Drmic I, Buchanan JA, Roberts W, Scherer SW. Autism spectrum disorder: advances in evidence-based practice. Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne. 186: 509-19. PMID 24418986 DOI: 10.1503/Cmaj.121756  0.358
2014 Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, ... ... Scherer SW, et al. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Human Molecular Genetics. 23: 2752-68. PMID 24381304 DOI: 10.1093/Hmg/Ddt669  0.738
2014 Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. American Journal of Medical Genetics. Part A. 164: 796-800. PMID 24375972 DOI: 10.1002/Ajmg.A.36356  0.406
2014 Oei L, Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, ... ... Scherer SW, et al. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. Journal of Medical Genetics. 51: 122-31. PMID 24343915 DOI: 10.1136/Jmedgenet-2013-102064  0.322
2014 Pang AW, Macdonald JR, Yuen RK, Hayes VM, Scherer SW. Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum. G3 (Bethesda, Md.). 4: 63-5. PMID 24192839 DOI: 10.1534/G3.113.008797  0.387
2014 MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Research. 42: D986-92. PMID 24174537 DOI: 10.1093/Nar/Gkt958  0.369
2014 Costain G, Esplen MJ, Toner B, Scherer SW, Meschino WS, Hodgkinson KA, Bassett AS. Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophrenia Bulletin. 40: 78-87. PMID 23236078 DOI: 10.1093/Schbul/Sbs138  0.334
2014 Scherer SW. Autism and related neurodevelopmental disorders: the many genes involved Bmc Genomics. 15: 1-1. DOI: 10.1186/1471-2164-15-S2-O22  0.489
2013 Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, et al. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. Journal of Clinical Immunology. 33: 1150-5. PMID 23943155 DOI: 10.1007/S10875-013-9927-9  0.354
2013 Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Scherer SW, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711  0.371
2013 Szego MJ, Buchanan JA, Scherer SW. Building trust in 21st century genomics. G3 (Bethesda, Md.). 3: 1209-11. PMID 23926223 DOI: 10.1534/G3.113.007690  0.321
2013 Walker S, Scherer SW. Identification of candidate intergenic risk loci in autism spectrum disorder. Bmc Genomics. 14: 499. PMID 23879678 DOI: 10.1186/1471-2164-14-499  0.497
2013 Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, ... ... Scherer SW, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. American Journal of Human Genetics. 93: 249-63. PMID 23849776 DOI: 10.1016/J.Ajhg.2013.06.012  0.47
2013 Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Human Molecular Genetics. 22: 4485-501. PMID 23813976 DOI: 10.1093/Hmg/Ddt297  0.684
2013 Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM. TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. Human Genetics. 132: 1245-52. PMID 23812740 DOI: 10.1007/S00439-013-1323-2  0.339
2013 Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, Buxbaum JD, Pinto D, Marshall CR, Lionel AC, Scherer SW, Webber C. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. Plos Genetics. 9: e1003523. PMID 23754953 DOI: 10.1371/Journal.Pgen.1003523  0.695
2013 Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clinical Genetics. 83: 399-407. PMID 23425232 DOI: 10.1111/Cge.12101  0.43
2013 Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, ... ... Scherer SW, et al. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Human Molecular Genetics. 22: 2055-66. PMID 23393157 DOI: 10.1093/Hmg/Ddt056  0.72
2013 Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, ... ... Scherer SW, et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. Bmc Medical Genomics. 6: 1. PMID 23356856 DOI: 10.1186/1755-8794-6-1  0.35
2013 Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, ... ... Scherer SW, et al. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Journal of Medical Genetics. 50: 163-73. PMID 23335808 DOI: 10.1136/Jmedgenet-2012-101288  0.732
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, ... ... Scherer SW, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/J.Ajhg.2012.12.011  0.737
2013 Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ. HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research Human Mutation. 34: 657-660. PMID 23315969 DOI: 10.1002/Humu.22270  0.337
2013 Dhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Loh ML, Chetty R, Wei AC, Dror Y. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatric Blood & Cancer. 60: 754-60. PMID 23303473 DOI: 10.1002/Pbc.24453  0.324
2013 Kirkness EF, Grindberg RV, Yee-Greenbaum J, Marshall CR, Scherer SW, Lasken RS, Venter JC. Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Research. 23: 826-32. PMID 23282328 DOI: 10.1101/gr.144600.112  0.307
2013 Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW. Mechanisms of formation of structural variation in a fully sequenced human genome. Human Mutation. 34: 345-54. PMID 23086744 DOI: 10.1002/Humu.22240  0.399
2013 Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. 1q21.1 Microduplication expression in adults. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 282-9. PMID 23018752 DOI: 10.1038/Gim.2012.129  0.699
2013 Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. Parents' perspectives on participating in genetic research in autism. Journal of Autism and Developmental Disorders. 43: 556-68. PMID 22782649 DOI: 10.1007/S10803-012-1592-Y  0.308
2013 Rucker JJ, Breen G, Pinto D, Pedroso I, Lewis CM, Cohen-Woods S, Uher R, Schosser A, Rivera M, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, ... ... Scherer SW, et al. Genome-wide association analysis of copy number variation in recurrent depressive disorder. Molecular Psychiatry. 18: 183-9. PMID 22042228 DOI: 10.1038/Mp.2011.144  0.381
2013 Hitz M, Lemieux-Perreault L, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras J, Thibeault M, Chetaille P, Montpetit A, Khairy P, ... ... Scherer SW, et al. Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease Plos Genetics. 9. DOI: 10.1371/Annotation/8Bc63544-9Ed4-42Ca-A830-E8058Ab13Bab  0.649
2013 Marshall CR, Lionel AC, Scherer SW. Copy Number Variation in Autism Spectrum Disorders The Neuroscience of Autism Spectrum Disorders. 145-154. DOI: 10.1016/B978-0-12-391924-3.00009-0  0.672
2012 Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW. A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda, Md.). 2: 1665-85. PMID 23275889 DOI: 10.1534/G3.112.004689  0.738
2012 Scherer SW. Genomics is the medium for 21st century biology. Genome / National Research Council Canada = GéNome / Conseil National De Recherches Canada. 55: v. PMID 23186029 DOI: 10.1139/G2012-068  0.309
2012 Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. Bmc Medical Genetics. 13: 111. PMID 23171239 DOI: 10.1186/1471-2350-13-111  0.321
2012 Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, ... ... Scherer SW, et al. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Archives of General Psychiatry. 69: 1238-46. PMID 23044507 DOI: 10.1001/Archgenpsychiatry.2012.660  0.409
2012 Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, ... ... Scherer SW, et al. Rare copy number variants contribute to congenital left-sided heart disease. Plos Genetics. 8: e1002903. PMID 22969434 DOI: 10.1371/Journal.Pgen.1002903  0.705
2012 Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, et al. Early-onset Lafora body disease Brain. 135: 2684-2698. PMID 22961547 DOI: 10.1093/Brain/Aws205  0.322
2012 Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. Plos Genetics. 8: e1002843. PMID 22912587 DOI: 10.1371/Journal.Pgen.1002843  0.745
2012 Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA. Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. Pediatric Neurology. 47: 205-8. PMID 22883287 DOI: 10.1016/J.Pediatrneurol.2012.05.004  0.374
2012 Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, ... ... Scherer SW, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/Hmg/Dds301  0.404
2012 Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, ... ... Scherer SW, et al. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 488: 49-56. PMID 22832581 DOI: 10.1038/Nature11327  0.667
2012 Al-Sukhni W, Joe S, Lionel AC, Zwingerman N, Zogopoulos G, Marshall CR, Borgida A, Holter S, Gropper A, Moore S, Bondy M, Klein AP, Petersen GM, Rabe KG, Schwartz AG, ... ... Scherer SW, et al. Identification of germline genomic copy number variation in familial pancreatic cancer. Human Genetics. 131: 1481-94. PMID 22665139 DOI: 10.1007/S00439-012-1183-1  0.716
2012 Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, ... ... Scherer SW, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences of the United States of America. 109: 7974-81. PMID 22566635 DOI: 10.1073/Pnas.1120210109  0.69
2012 Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, ... ... Scherer SW, et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. American Journal of Human Genetics. 90: 879-87. PMID 22503632 DOI: 10.1016/J.Ajhg.2012.03.017  0.701
2012 Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Current Opinion in Genetics & Development. 22: 229-37. PMID 22463983 DOI: 10.1016/J.Gde.2012.03.002  0.483
2012 Williams NM, Franke B, Mick E, Anney RJ, Freitag CM, Gill M, Thapar A, O'Donovan MC, Owen MJ, Holmans P, Kent L, Middleton F, Zhang-James Y, Liu L, Meyer J, ... ... Scherer SW, et al. Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. The American Journal of Psychiatry. 169: 195-204. PMID 22420048 DOI: 10.1176/Appi.Ajp.2011.11060822  0.716
2012 Ghani M, Pinto D, Lee JH, Grinberg Y, Sato C, Moreno D, Scherer SW, Mayeux R, St George-Hyslop P, Rogaeva E. Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda, Md.). 2: 71-8. PMID 22384383 DOI: 10.1534/G3.111.000869  0.43
2012 Dubuc AM, Morrissy AS, Kloosterhof NK, Northcott PA, Yu EP, Shih D, Peacock J, Grajkowska W, van Meter T, Eberhart CG, Pfister S, Marra MA, Weiss WA, Scherer SW, Rutka JT, et al. Subgroup-specific alternative splicing in medulloblastoma. Acta Neuropathologica. 123: 485-99. PMID 22358458 DOI: 10.1007/S00401-012-0959-7  0.322
2012 Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, ... ... Scherer SW, et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Plos Genetics. 8: e1002521. PMID 22346768 DOI: 10.1371/Journal.Pgen.1002521  0.457
2012 Marshall CR, Scherer SW. Detection and characterization of copy number variation in autism spectrum disorder. Methods in Molecular Biology (Clifton, N.J.). 838: 115-35. PMID 22228009 DOI: 10.1007/978-1-61779-507-7_5  0.493
2012 Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, ... ... Scherer SW, et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. American Journal of Human Genetics. 90: 133-41. PMID 22209245 DOI: 10.1016/J.Ajhg.2011.11.025  0.745
2012 Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics : Ejhg. 20: 398-403. PMID 22085900 DOI: 10.1038/Ejhg.2011.199  0.718
2012 Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, ... ... Scherer SW, et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131: 565-79. PMID 21996756 DOI: 10.1007/S00439-011-1094-6  0.493
2012 Berkel S, Tang W, Treviño M, Vogt M, Obenhaus HA, Gass P, Scherer SW, Sprengel R, Schratt G, Rappold GA. Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Human Molecular Genetics. 21: 344-57. PMID 21994763 DOI: 10.1093/Hmg/Ddr470  0.358
2012 Tang CS, Cheng G, So M, Yip BH, Miao X, Wong EH, Ngan ES, Lui VC, Song Y, Chan D, Cheung K, Yuan Z, Lei L, Chung PH, Liu X, ... ... Scherer S, et al. Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3 Plos Genetics. 8. DOI: 10.1371/Annotation/0Ffda9E0-Ba27-40C1-B766-Df58De9083D5  0.402
2011 Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Scherer SW, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406  0.396
2011 Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, ... ... Scherer SW, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Science Translational Medicine. 3: 95ra75. PMID 21832240 DOI: 10.1126/Scitranslmed.3002464  0.711
2011 Scherer SW, Dawson G. Risk factors for autism: translating genomic discoveries into diagnostics. Human Genetics. 130: 123-48. PMID 21701786 DOI: 10.1007/S00439-011-1037-2  0.423
2011 Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. European Journal of Medical Genetics. 54: e516-20. PMID 21689796 DOI: 10.1016/J.Ejmg.2011.05.008  0.406
2011 Nishiyama T, Takahashi K, Tango T, Pinto D, Scherer SW, Takami S, Kishino H. A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data. Bmc Bioinformatics. 12: 205. PMID 21612662 DOI: 10.1186/1471-2105-12-205  0.372
2011 Zwaigenbaum L, Scherer S, Szatmari P, Fombonne E, Bryson SE, Hyde K, Anagnostou E, Anognostou E, Brian J, Evans A, Hall G, Nicholas D, Roberts W, Smith I, Vaillancourt T, et al. The NeuroDevNet Autism Spectrum Disorders Demonstration Project. Seminars in Pediatric Neurology. 18: 40-8. PMID 21575840 DOI: 10.1016/J.Spen.2011.02.003  0.365
2011 Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, ... ... Scherer SW, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotechnology. 29: 512-20. PMID 21552272 DOI: 10.1038/Nbt.1852  0.677
2011 Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P. Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. Journal of Neurodevelopmental Disorders. 3: 113-23. PMID 21484201 DOI: 10.1007/S11689-011-9072-9  0.461
2011 Pagnamenta AT, Holt R, Yusuf M, Pinto D, Wing K, Betancur C, Scherer SW, Volpi EV, Monaco AP. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. Journal of Neurodevelopmental Disorders. 3: 124-31. PMID 21484199 DOI: 10.1007/S11689-011-9076-5  0.516
2011 Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. Bmc Medical Genetics. 12: 45. PMID 21439084 DOI: 10.1186/1471-2350-12-45  0.717
2011 Joseph-George AM, He Y, Marshall CR, Wong RC, MacDonald JR, Fahey CA, Chitayat D, Chun K, Ryan G, Summers AM, Winsor EJ, Scherer SW. Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions. Journal of Medical Genetics. 48: 317-22. PMID 21429932 DOI: 10.1136/Jmg.2010.085662  0.398
2011 Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, Ferreira JC, Pinto D, Scherer SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS, et al. A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Research. 21: 465-76. PMID 21324877 DOI: 10.1101/Gr.111922.110  0.329
2011 Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. American Journal of Medical Genetics. Part A. 155: 424-9. PMID 21271666 DOI: 10.1002/Ajmg.A.33821  0.372
2011 Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW. A genotype resource for postmortem brain samples from the Autism Tissue Program. Autism Research : Official Journal of the International Society For Autism Research. 4: 89-97. PMID 21254448 DOI: 10.1002/Aur.173  0.693
2011 Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clinical Genetics. 80: 435-43. PMID 21114665 DOI: 10.1111/J.1399-0004.2010.01578.X  0.758
2011 Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, ... ... Scherer SW, et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. Journal of Medical Genetics. 48: 48-54. PMID 20972252 DOI: 10.1136/Jmg.2010.079426  0.481
2011 Ghahramani Seno MM, Hu P, Gwadry FG, Pinto D, Marshall CR, Casallo G, Scherer SW. Gene and miRNA expression profiles in autism spectrum disorders. Brain Research. 1380: 85-97. PMID 20868653 DOI: 10.1016/J.Brainres.2010.09.046  0.46
2011 Rogaeva E, Ghani M, Pinto D, Lee J, Reitz C, Scherer S, Mayeux R, George-Hyslop PS. Genome-Wide Analysis of Large Rare Copy Number Variations in Alzheimer Disease Among Caribbean Hispanics Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.538  0.356
2010 Church DM, Lappalainen I, Sneddon TP, Hinton J, Maguire M, Lopez J, Garner J, Paschall J, DiCuccio M, Yaschenko E, Scherer SW, Feuk L, Flicek P. Public data archives for genomic structural variation. Nature Genetics. 42: 813-4. PMID 20877315 DOI: 10.1038/Ng1010-813  0.302
2010 Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, ... ... Scherer SW, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/Scitranslmed.3001267  0.725
2010 Bigham A, Bauchet M, Pinto D, Mao X, Akey JM, Mei R, Scherer SW, Julian CG, Wilson MJ, López Herráez D, Brutsaert T, Parra EJ, Moore LG, Shriver MD. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. Plos Genetics. 6: e1001116. PMID 20838600 DOI: 10.1371/Journal.Pgen.1001116  0.405
2010 Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, ... ... Scherer SW, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/Hmg/Ddq307  0.713
2010 Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Scherer SW, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146  0.737
2010 Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ. HGV2009 meeting: bigger and better studies provide more answers and more questions. Human Mutation. 31: 886-8. PMID 20506253 DOI: 10.1002/Humu.21270  0.348
2010 Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW. Towards a comprehensive structural variation map of an individual human genome. Genome Biology. 11: R52. PMID 20482838 DOI: 10.1186/Gb-2010-11-5-R52  0.374
2010 Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genetics. 42: 489-91. PMID 20473310 DOI: 10.1038/Ng.589  0.418
2010 Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, ... ... Scherer SW, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics. 86: 749-64. PMID 20466091 DOI: 10.1016/J.Ajhg.2010.04.006  0.397
2010 Bassett AS, Scherer SW, Brzustowicz LM. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. The American Journal of Psychiatry. 167: 899-914. PMID 20439386 DOI: 10.1176/Appi.Ajp.2009.09071016  0.382
2010 Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, ... ... Scherer SW, et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nature Genetics. 42: 400-5. PMID 20364138 DOI: 10.1038/Ng.555  0.387
2010 Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, ... ... Scherer SW, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 464: 713-20. PMID 20360734 DOI: 10.1038/Nature08979  0.383
2010 Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clinical Genetics. 78: 478-83. PMID 20345473 DOI: 10.1111/J.1399-0004.2010.01405.X  0.382
2010 Lee C, Scherer SW. The clinical context of copy number variation in the human genome Expert Reviews in Molecular Medicine. 12. PMID 20211047 DOI: 10.1017/S1462399410001390  0.395
2010 Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. European Journal of Human Genetics : Ejhg. 18: 429-35. PMID 19920853 DOI: 10.1038/Ejhg.2009.192  0.45
2010 Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, ... ... Scherer SW, et al. Origins and functional impact of copy number variation in the human genome. Nature. 464: 704-12. PMID 19812545 DOI: 10.1038/Nature08516  0.398
2010 Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, ... ... Scherer SW, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics. 47: 195-203. PMID 19755429 DOI: 10.1136/Jmg.2009.069369  0.447
2010 Noh HJ, Marshall CR, Pinto D, Scherer SW, Ponting CP, Webber C. Candidate genes and biological processes in de novo CNVs from autistic individuals Genome Biology. 11: O9. DOI: 10.1186/Gb-2010-11-S1-O9  0.393
2010 Webber C, Marshall C, Pinto D, Scherer S, Ponting C. 46% of individuals with ASD that harbour de novo CNVs have at least one de novo CNV that overlaps a gene associated with synaptic signalling International Journal of Developmental Neuroscience. 28: 708-708. DOI: 10.1016/J.Ijdevneu.2010.07.192  0.37
2009 Horike SI, Ferreira JCP, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome American Journal of Medical Genetics, Part A. 149: 2415-2423. PMID 19876907 DOI: 10.1002/Ajmg.A.33065  0.349
2009 Carson AR, Scherer SW. Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years Bmc Evolutionary Biology. 9. PMID 19583854 DOI: 10.1186/1471-2148-9-156  0.386
2009 Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW. Whole genome scanning: Resolving clinical diagnosis and management amidst complex data Pediatric Research. 66: 357-363. PMID 19531980 DOI: 10.1203/Pdr.0B013E3181B0Cbd8  0.351
2009 Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW. Genomic variation in a global village: Report of the 10th Annual Human Genome Variation Meeting 2008 Human Mutation. 30: 1134-1138. PMID 19384970 DOI: 10.1002/Humu.21008  0.361
2009 Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, Scherer SW. The cycle of genome-directed medicine. Genome Medicine. 1: 16. PMID 19341487 DOI: 10.1186/Gm16  0.306
2009 Noor A, Gianakopoulos PJ, Fernandez B, Marshall CR, Szatmari P, Roberts W, Scherer SW, Vincent JB. Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Psychiatric Genetics. 19: 154-5. PMID 19339915 DOI: 10.1097/Ypg.0B013E32832A4Fe5  0.403
2009 Northcott PA, Nakahara Y, Wu X, Feuk L, Ellison DW, Croul S, Mack S, Kongkham PN, Peacock J, Dubuc A, Ra YS, Zilberberg K, McLeod J, Scherer SW, Sunil Rao J, et al. Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nature Genetics. 41: 465-72. PMID 19270706 DOI: 10.1038/Ng.336  0.379
2009 Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, et al. Association and mutation analyses of 16p11.2 autism candidate genes. Plos One. 4: e4582. PMID 19242545 DOI: 10.1371/Journal.Pone.0004582  0.485
2009 Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 150: 817-26. PMID 19086034 DOI: 10.1002/Ajmg.B.30903  0.434
2009 Fidler LM, Wilson GJ, Liu F, Cui X, Scherer SW, Taylor GP, Hamilton RM. Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. Journal of Cellular and Molecular Medicine. 13: 4219-28. PMID 18662195 DOI: 10.1111/J.1582-4934.2008.00438.X  0.343
2008 Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, ... ... Scherer SW, et al. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenetic and Genome Research. 123: 65-78. PMID 19287140 DOI: 10.1159/000184693  0.731
2008 Okamura K, Wintle RF, Scherer SW. Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting Genome Biology. 9: 1-10. PMID 19014519 DOI: 10.1186/Gb-2008-9-11-R160  0.399
2008 Buchanan JA, Scherer SW. Contemplating effects of genomic structural variation. Genetics in Medicine. 10: 639-647. PMID 18978673 DOI: 10.1097/Gim.0B013E318183F848  0.42
2008 Cook EH, Scherer SW. Copy-number variations associated with neuropsychiatric conditions Nature. 455: 919-923. PMID 18923514 DOI: 10.1038/Nature07458  0.434
2008 Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molecular Genetics. 17: 4045-53. PMID 18806272 DOI: 10.1093/Hmg/Ddn307  0.697
2008 Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome Proceedings of the National Academy of Sciences of the United States of America. 105: 11264-11269. PMID 18685109 DOI: 10.1073/Pnas.0802970105  0.409
2008 Parker-Katiraee L, Bousiaki E, Monk D, Moore GE, Nakabayashi K, Scherer SW. Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. Human Molecular Genetics. 17: 3263-70. PMID 18678600 DOI: 10.1093/Hmg/Ddn222  0.319
2008 Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, ... ... Scherer SW, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. American Journal of Human Genetics. 83: 106-11. PMID 18565486 DOI: 10.1016/J.Ajhg.2008.06.001  0.387
2008 Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. American Journal of Medical Genetics. Part A. 146: 1797-806. PMID 18553513 DOI: 10.1002/Ajmg.A.32360  0.4
2008 Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psychiatric Genetics. 18: 101-9. PMID 18496206 DOI: 10.1097/Ypg.0B013E3282F97Df7  0.4
2008 Monk D, Wagschal A, Arnaud P, Müller PS, Parker-Katiraee L, Bourc'his D, Scherer SW, Feil R, Stanier P, Moore GE. Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. Genome Research. 18: 1270-81. PMID 18480470 DOI: 10.1101/Gr.077115.108  0.356
2008 Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report Plos Genetics. 4. PMID 18437244 DOI: 10.1371/Journal.Pgen.1000068  0.378
2008 Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, ... ... Scherer SW, et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics. 82: 477-88. PMID 18252227 DOI: 10.1016/J.Ajhg.2007.12.009  0.761
2008 Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay American Journal of Medical Genetics, Part A. 146: 636-643. PMID 17334992 DOI: 10.1002/Ajmg.A.31636  0.418
2007 Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Contribution of SHANK3 mutations to autism spectrum disorder. American Journal of Human Genetics. 81: 1289-97. PMID 17999366 DOI: 10.1086/522590  0.43
2007 Pinto D, Marshall C, Feuk L, Scherer SW. Copy-number variation in control population cohorts Human Molecular Genetics. 17: 466-467. PMID 17911159 DOI: 10.1093/Hmg/Ddm241  0.402
2007 Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, ... ... Scherer SW, et al. The diploid genome sequence of an individual human. Plos Biology. 5: e254. PMID 17803354 DOI: 10.1371/Journal.Pbio.0050254  0.4
2007 Mensah AK, De Luca V, Stachowiak B, Noor A, Windpassinger C, Lam ST, Kennedy JL, Scherer SW, Lo IF, Vincent JB. Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong. Schizophrenia Research. 95: 228-35. PMID 17644315 DOI: 10.1016/J.Schres.2007.06.011  0.413
2007 Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C, Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S. Germ-line DNA copy number variation frequencies in a large North American population. Human Genetics. 122: 345-53. PMID 17638019 DOI: 10.1007/S00439-007-0404-5  0.405
2007 Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L. Challenges and standards in integrating surveys of structural variation. Nature Genetics. 39: S7-15. PMID 17597783 DOI: 10.1038/Ng2093  0.358
2007 Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, ... Scherer SW, et al. Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. Plos Genetics. 3: e65. PMID 17480121 DOI: 10.1371/Journal.Pgen.0030065  0.419
2007 Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA. Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. Bmc Genomics. 8: 92. PMID 17407603 DOI: 10.1186/1471-2164-8-92  0.347
2007 Claudio JO, Zhan F, Zhuang L, Khaja R, Zhu YX, Sivananthan K, Trudel S, Masih-Khan E, Fonseca R, Bergsagel PL, Scherer SW, Shaughnessy J, Stewart AK. Expression and mutation status of candidate kinases in multiple myeloma. Leukemia. 21: 1124-7. PMID 17344920 DOI: 10.1038/Sj.Leu.2404612  0.32
2007 Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, ... ... Scherer SW, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985  0.462
2007 Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (New York, N.Y.). 315: 848-53. PMID 17289997 DOI: 10.1126/Science.1136678  0.412
2007 Abecasis G, Tam PKH, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. Human genome variation 2006: Emerging views on structural variation and large-scale SNP analysis Nature Genetics. 39: 153-155. PMID 17262030 DOI: 10.1038/Ng0207-153  0.371
2007 Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Srivistava AK, Minassian BA, et al. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 355-60. PMID 17171659 DOI: 10.1002/Ajmg.B.30425  0.373
2007 Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Molecular Genetics and Genomics : Mgg. 277: 71-81. PMID 17043892 DOI: 10.1007/S00438-006-0173-1  0.455
2007 Kwasnicka-Crawford DA, Roberts W, Scherer SW. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region. Journal of Autism and Developmental Disorders. 37: 694-702. PMID 17006779 DOI: 10.1007/S10803-006-0225-8  0.4
2006 Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome Cytogenetic and Genome Research. 115: 205-214. PMID 17124402 DOI: 10.1159/000095916  0.393
2006 Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, ... ... Scherer SW, et al. Global variation in copy number in the human genome. Nature. 444: 444-54. PMID 17122850 DOI: 10.1038/Nature05329  0.427
2006 Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, ... ... Scherer SW, et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Research. 16: 1566-74. PMID 17122085 DOI: 10.1101/Gr.5630906  0.394
2006 Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, Zhang J, Liu G, Ihara S, Nakamura H, Hurles ME, Lee C, Scherer SW, Jones KW, Shapero MH, Huang J, et al. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Research. 16: 1575-84. PMID 17122084 DOI: 10.1101/Gr.5629106  0.387
2006 Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, ... ... Scherer SW, et al. Genome assembly comparison identifies structural variants in the human genome. Nature Genetics. 38: 1413-8. PMID 17115057 DOI: 10.1038/Ng1921  0.38
2006 KwaÅ›nicka-Crawford DA, Carson AR, Scherer SW. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Biochemical and Biophysical Research Communications. 350: 890-9. PMID 17045569 DOI: 10.1016/J.Bbrc.2006.09.136  0.379
2006 Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, ... ... Scherer SW, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia American Journal of Human Genetics. 79: 965-972. PMID 17033973 DOI: 10.1086/508902  0.42
2006 Osborne LR, Joseph-George AM, Scherer SW. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods in Molecular Medicine. 126: 113-28. PMID 16930009 DOI: 10.1385/1-59745-088-X:113  0.393
2006 Wilson MD, Cheung J, Martindale DW, Scherer SW, Koop BF. Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes : duplication, conversion, and the birth of new genes Physiological Genomics. 27: 201-218. PMID 16926269 DOI: 10.1152/Physiolgenomics.00284.2005  0.329
2006 Okamura K, Feuk L, Marquès-Bonet T, Navarro A, Scherer SW. Frequent appearance of novel protein-coding sequences by frameshift translation. Genomics. 88: 690-7. PMID 16890400 DOI: 10.1016/J.Ygeno.2006.06.009  0.36
2006 Khaja R, MacDonald JR, Zhang J, Scherer SW. Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes. Methods in Molecular Biology (Clifton, N.J.). 338: 9-20. PMID 16888347 DOI: 10.1385/1-59745-097-9:9  0.38
2006 Carson AR, Feuk L, Mohammed M, Scherer SW. Strategies for the detection of copy number and other structural variants in the human genome. Human Genomics. 2: 403-14. PMID 16848978 DOI: 10.1186/1479-7364-2-6-403  0.397
2006 Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). European Journal of Medical Genetics. 49: 338-345. PMID 16829355 DOI: 10.1016/J.Ejmg.2005.10.133  0.456
2006 Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Research. 16: 949-61. PMID 16809666 DOI: 10.1101/Gr.3677206  0.466
2006 Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, Cáceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, Stone AC, Lee C. Hotspots for copy number variation in chimpanzees and humans. Proceedings of the National Academy of Sciences of the United States of America. 103: 8006-11. PMID 16702545 DOI: 10.1073/Pnas.0602318103  0.42
2006 Feuk L, Marshall CR, Wintle RF, Scherer SW. Structural variants: changing the landscape of chromosomes and design of disease studies Human Molecular Genetics. 15. PMID 16651370 DOI: 10.1093/Hmg/Ddl057  0.46
2006 Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Journal of Medical Genetics. 43: 429-434. PMID 16556609 DOI: 10.1136/Jmg.2005.039693  0.384
2006 Carson AR, Cheung J, Scherer SW. Duplication and relocation of the functional DPY19L2 gene within low copy repeats Bmc Genomics. 7. PMID 16526957 DOI: 10.1186/1471-2164-7-45  0.418
2006 Zeesman S, Nowaczyk MJM, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 American Journal of Medical Genetics. 140: 509-514. PMID 16470794 DOI: 10.1002/Ajmg.A.31110  0.436
2006 Feuk L, Carson AR, Scherer SW. Structural variation in the human genome Nature Reviews Genetics. 7: 85-97. PMID 16418744 DOI: 10.1038/Nrg1767  0.399
2006 Dohner K, Habdank M, Rucker FG, Miller S, Frohling S, Scherer SW, Bullinger L, Dohner H. Molecular Characterization of Distinct Hot Spot Regions on Chromosome 7q in Myeloid Leukemias. Blood. 108: 2349-2349. DOI: 10.1182/Blood.V108.11.2349.2349  0.421
2006 Daar AS, Scherer SW, Hegele RA. Implications of copy-number variation in the human genome: a time for questions Nature Reviews Genetics. 7: 414-414. DOI: 10.1038/Nrg1884  0.354
2005 Armengol L, Marquès-Bonet T, Cheung J, Khaja R, González JR, Scherer SW, Navarro A, Estivill X. Murine segmental duplications are hot spots for chromosome and gene evolution. Genomics. 86: 692-700. PMID 16256303 DOI: 10.1016/J.Ygeno.2005.08.008  0.399
2005 Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies Plos Genetics.. 1. PMID 16254605 DOI: 10.1371/Journal.Pgen.0010056  0.408
2005 Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severe expressive-language delay related to duplication of the Williams-Beuren locus. The New England Journal of Medicine. 353: 1694-701. PMID 16236740 DOI: 10.1056/Nejmoa051962  0.359
2005 Fernandez BA, Siegel-Bartelt J, Herbrick J-S, Teshima I, Scherer SW. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature Clinical Genetics. 68: 349-359. PMID 16143022 DOI: 10.1111/J.1399-0004.2005.00498.X  0.447
2005 Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Human Mutation. 26: 397. PMID 16134145 DOI: 10.1002/Humu.9376  0.394
2005 Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Human Genetics. 117: 383-8. PMID 15933846 DOI: 10.1007/S00439-005-1325-9  0.391
2005 Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnström K, Järvelä I, Scherer SW. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics. 86: 182-94. PMID 15925480 DOI: 10.1016/J.Ygeno.2005.04.002  0.421
2005 Boright AP, Paterson AD, Mirea L, Bull SB, Mowjoodi A, Scherer SW, Zinman B. Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study. Diabetes. 54: 1238-44. PMID 15793268 DOI: 10.2337/Diabetes.54.4.1238  0.332
2005 Yamada T, Carson AR, Caniggia I, Umebayashi K, Yoshimori T, Nakabayashi K, Scherer SW. Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast Journal of Biological Chemistry. 280: 18283-18290. PMID 15755735 DOI: 10.1074/Jbc.M413957200  0.35
2005 Minagawa S, Nakabayashi K, Fujii M, Scherer SW, Ayusawa D. Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells Experimental Cell Research. 304: 552-558. PMID 15748899 DOI: 10.1016/J.Yexcr.2004.10.036  0.353
2005 Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, ... ... Scherer SW, et al. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. American Journal of Human Genetics. 76: 510-6. PMID 15645389 DOI: 10.1086/428141  0.397
2005 Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, ... Scherer SW, et al. Expanded repeat in canine epilepsy. Science (New York, N.Y.). 307: 81. PMID 15637270 DOI: 10.1126/Science.1102832  0.313
2005 Eppert K, Wunder JS, Aneliunas V, Tsui LC, Scherer SW, Andrulis IL. Altered expression and deletion of RMO1 in osteosarcoma. International Journal of Cancer. 114: 738-46. PMID 15609301 DOI: 10.1002/Ijc.20786  0.32
2004 Scherer SW, Green ED. Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome Human Molecular Genetics. 13. PMID 15358738 DOI: 10.1093/Hmg/Ddh231  0.438
2004 Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology. 63: 565-7. PMID 15304597 DOI: 10.1212/01.Wnl.0000133215.65836.03  0.367
2004 Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nature Genetics. 36: 949-51. PMID 15286789 DOI: 10.1038/Ng1416  0.396
2004 Nakabayashi K, Makino S, Minagawa S, Smith AC, Bamforth JS, Stanier P, Preece M, Parker-Katiraee L, Paton T, Oshimura M, Mill P, Yoshikawa Y, Hui CC, Monk D, Moore GE, ... Scherer SW, et al. Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. Journal of Medical Genetics. 41: 601-8. PMID 15286155 DOI: 10.1136/Jmg.2003.014142  0.427
2004 Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 129: 82-4. PMID 15274046 DOI: 10.1002/Ajmg.B.30069  0.424
2004 Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E. De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. American Journal of Medical Genetics Part A. 129: 98-100. PMID 15266626 DOI: 10.1002/Ajmg.A.30150  0.351
2004 Minagawa S, Nakabayashi K, Fujii M, Scherer SW, Ayusawa D. Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells Experimental Gerontology. 39: 1069-1078. PMID 15236766 DOI: 10.1016/J.Exger.2004.03.022  0.38
2004 Vincent JB, Thevarkunnel S, Kolozsvari D, Paterson AD, Roberts W, Scherer SW. Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 125: 54-6. PMID 14755444 DOI: 10.1002/Ajmg.B.20088  0.433
2004 Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA. Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Human Mutation. 23: 170-6. PMID 14722920 DOI: 10.1002/Humu.10306  0.327
2004 Liu X, Li X, Li M, Acimovic YJ, Li Z, Scherer SW, Estivill X, Tsui LC. Characterization of the segmental duplication LCR7-20 in the human genome. Genomics. 83: 262-9. PMID 14706455 DOI: 10.1016/J.Ygeno.2003.08.003  0.365
2004 Haddad R, Vincent JB, Gryfe R, Kim H, Wen J, Redston M, Scherer SW, Gallinger S. Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer. Cancer Letters. 203: 87-90. PMID 14670621 DOI: 10.1016/J.Canlet.2003.08.003  0.383
2004 Xu J, Zwaigenbaum L, Szatmari P, Scherer SW. Molecular Cytogenetics of Autism Current Genomics. 5: 347-364. DOI: 10.2174/1389202043349246  0.306
2004 Claudio JO, Khaja R, Zhuang L, Bali M, Sivananthan K, Christopoulos CC, Fonseca R, Bergsagel PL, Scherer SW, Stewart AK. Sequencing the Multiple Myeloma Kinome: Absence of Mutation in Known Malignancy-Associated Kinases. Blood. 104: 783-783. DOI: 10.1182/Blood.V104.11.783.783  0.331
2004 Csóka AB, Frost GI, Heng HHQ, Scherer SW, Mohapatra G, Stern R. Corrigendum to “The hyaluronidase gene HYAL1 maps to chromosome 3p21.2–p21.3 in human and 9F1–F2 in mouse, a conserved candidate tumor suppressor locus” [Genomics 48 (1998) 63–70] Genomics. 84: 227. DOI: 10.1016/J.Ygeno.2003.11.002  0.377
2003 Fadiel A, Lithwick S, Ganji G, Scherer SW. Remarkable sequence signatures in archaeal genomes Archaea. 1: 185-190. PMID 15803664 DOI: 10.1155/2003/458235  0.337
2003 Andrade DM, Ackerley CA, Minett TSC, Teive HAG, Bohlega S, Scherer SW, Minassian BA. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology. 61: 1611-1614. PMID 14663053 DOI: 10.1212/01.Wnl.0000096017.19978.Cb  0.308
2003 Zlotorynski E, Rahat A, Skaug J, Ben-Porat N, Ozeri E, Hershberg R, Levi A, Scherer SW, Margalit H, Kerem B. Molecular basis for expression of common and rare fragile sites. Molecular and Cellular Biology. 23: 7143-51. PMID 14517285 DOI: 10.1128/Mcb.23.20.7143-7151.2003  0.332
2003 Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, ... Scherer SW, et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genetics. 35: 125-7. PMID 12958597 DOI: 10.1038/Ng1238  0.312
2003 Tosi S, Hughes J, Scherer SW, Nakabayashi K, Harbott J, Haas OA, Cazzaniga G, Biondi A, Kempski H, Kearney L. Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia. Genes, Chromosomes and Cancer. 38: 191-200. PMID 12939747 DOI: 10.1002/Gcc.10258  0.349
2003 Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements Human Molecular Genetics. 12: 2201-2208. PMID 12915466 DOI: 10.1093/Hmg/Ddg223  0.412
2003 Cheung J, Wilson MD, Zhang J, Khaja R, MacDonald JR, Heng HH, Koop BF, Scherer SW. Recent segmental and gene duplications in the mouse genome. Genome Biology. 4: R47. PMID 12914656 DOI: 10.1186/Gb-2003-4-8-R47  0.387
2003 Ianzano L, Zhao XC, Minassian BA, Scherer SW. Identification of a novel protein interacting with laforin, the epm2a progressive myoclonus epilepsy gene product Genomics. 81: 579-587. PMID 12782127 DOI: 10.1016/S0888-7543(03)00094-6  0.394
2003 Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biology. 4: R25. PMID 12702206 DOI: 10.1186/Gb-2003-4-4-R25  0.372
2003 Rossant J, Scherer SW. The mouse genome sequence - The end of the tail, or just the beginning? Genome Biology. 4. PMID 12702199 DOI: 10.1186/Gb-2003-4-4-109  0.379
2003 Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/Science.1083423  0.4
2003 Bentley L, Nakabayashi K, Monk D, Beechey C, Peters J, Birjandi Z, Khayat FE, Patel M, Preece MA, Stanier P, Scherer SW, Moore GE. The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. Journal of Medical Genetics. 40: 249-56. PMID 12676894 DOI: 10.1136/Jmg.40.4.249  0.44
2003 Cisternas FA, Vincent JB, Scherer SW, Ray PN. Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. Genomics. 81: 279-291. PMID 12659812 DOI: 10.1016/S0888-7543(02)00040-X  0.402
2003 Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome Blood. 101: 4301-4304. PMID 12586620 DOI: 10.1182/Blood-2003-01-0013  0.311
2003 Lamhonwah A, Skaug J, Scherer SW, Tein I. A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). Biochemical and Biophysical Research Communications. 301: 98-101. PMID 12535646 DOI: 10.1016/S0006-291X(02)02946-7  0.333
2003 Boright AP, Kere JA, Scherer SW. Genomics and pediatric research. Pediatric Research. 53: 4-9. PMID 12508074 DOI: 10.1203/00006450-200301000-00004  0.342
2002 Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus American Journal of Medical Genetics Part A. 117: 122-126. PMID 12567408 DOI: 10.1002/Ajmg.A.10155  0.387
2002 Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW. The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system. Genomics. 80: 283-94. PMID 12213198 DOI: 10.1006/Geno.2002.6835  0.432
2002 Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Human Molecular Genetics. 11: 1987-95. PMID 12165560 DOI: 10.1093/Hmg/11.17.1987  0.39
2002 Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Genetic analysis of patients with the Saethre-Chotzen phenotype American Journal of Medical Genetics. 110: 136-143. PMID 12116251 DOI: 10.1002/Ajmg.10400  0.375
2002 Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Human Molecular Genetics. 11: 1743-56. PMID 12095916 DOI: 10.1093/Hmg/11.15.1743  0.401
2002 Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L, Kerem B. A role for common fragile site induction in amplification of human oncogenes. Cancer Cell. 1: 89-97. PMID 12086891 DOI: 10.1016/S1535-6108(02)00017-X  0.335
2002 Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, et al. Mutations in SUFU predispose to medulloblastoma. Nature Genetics. 31: 306-10. PMID 12068298 DOI: 10.1038/Ng916  0.334
2002 Lettice LA, Horikoshi T, Heaney SJH, Baren MJv, Linde HCvd, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, ... ... Scherer SW, et al. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proceedings of the National Academy of Sciences of the United States of America. 99: 7548-7553. PMID 12032320 DOI: 10.1073/Pnas.112212199  0.368
2002 Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, ... Scherer SW, et al. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 79: 186-96. PMID 11829489 DOI: 10.1006/Geno.2002.6695  0.435
2001 Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics. 78: 7-11. PMID 11707066 DOI: 10.1006/Geno.2001.6651  0.47
2001 Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nature Genetics. 29: 321-5. PMID 11685205 DOI: 10.1038/Ng753  0.454
2001 Scherer SW, Cheung J. Discovery of the human genome sequence in the public and private databases Current Biology. 11. PMID 11676931 DOI: 10.1016/S0960-9822(01)00490-0  0.335
2001 Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, ... ... Scherer SW, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics. 29: 166-73. PMID 11586298 DOI: 10.1038/Ng1001-166  0.376
2001 Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, et al. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nature Genetics. 28: 220-1. PMID 11431691 DOI: 10.1038/90054  0.343
2001 Fröhling S, Nakabayashi K, Scherer SW, Döhner H, Döhner K. Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22. Human Genetics. 108: 304-309. PMID 11379876 DOI: 10.1007/S004390100498  0.432
2001 Nakabayashi K, Scherer SW. The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35 Genomics. 73: 108-112. PMID 11352571 DOI: 10.1006/Geno.2001.6517  0.424
2001 Hannula K, Lipsanen-Nyman M, Scherer SW, Holmberg C, Höglund P, Kere J. Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics. 73: 1-9. PMID 11352560 DOI: 10.1006/Geno.2001.6502  0.338
2001 Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. American Journal of Human Genetics. 68: 848-858. PMID 11254443 DOI: 10.1086/319523  0.468
2001 Wilson MD, Riemer C, Martindale DW, Schnupf P, Boright AP, Cheung TL, Hardy DM, Schwartz S, Scherer SW, Tsui LC, Miller W, Koop BF. Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5 Nucleic Acids Research. 29: 1352-1365. PMID 11239002 DOI: 10.1093/Nar/29.6.1352  0.435
2001 Shoemaker DD, Schadt EE, Armour CD, He YD, Garrett-Engele P, McDonagh PD, Loerch PM, Leonardson A, Lum PY, Cavet G, Wu LF, Altschuler SJ, Edwards S, King J, Tsang JS, ... ... Scherer S, et al. Experimental annotation of the human genome using microarray technology. Nature. 409: 922-7. PMID 11237012 DOI: 10.1038/35057141  0.406
2001 Wong CG, Scherer SW, Snead OC, Hampson DR. Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). Brain Research. Molecular Brain Research. 87: 109-16. PMID 11223165 DOI: 10.1016/S0169-328X(00)00283-7  0.366
2001 Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D, Koop BF, Scherer SW, Nicholson DW, Rouleau GA, Ikeda J, Hayden MR. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics. 71: 200-13. PMID 11161814 DOI: 10.1006/Geno.2000.6392  0.42
2001 Scherer SW. Cracking the Genome: Inside the Race to Unlock Human DNA American Journal of Human Genetics. 69: 242-242. DOI: 10.1086/321268  0.355
2000 Tosi S, Harbott J, Teigler-Schlegel A, Haas OA, Pirc-Danoewinata H, Harrison CJ, Biondi A, Cazzaniga G, Kempski H, Scherer SW, Kearney L. t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia. Genes, Chromosomes and Cancer. 29: 325-332. PMID 11066076 DOI: 10.1002/1098-2264(2000)9999:9999<::Aid-Gcc1039>3.0.Co;2-9  0.392
2000 Matos P, Skaug J, Marques B, Beck S, Veríssimo F, Gespach C, Boavida MG, Scherer SW, Jordan P. Small GTPase Rac1: structure, localization, and expression of the human gene. Biochemical and Biophysical Research Communications. 277: 741-51. PMID 11062023 DOI: 10.1006/Bbrc.2000.3743  0.37
2000 Whitmore TE, Holloway JL, Lofton-Day CE, Maurer MF, Chen L, Quinton TJ, Vincent JB, Scherer SW, Lok S. Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA. Cytogenetics and Cell Genetics. 90: 47-52. PMID 11060443 DOI: 10.1159/000015658  0.403
2000 Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics. 26: 71-5. PMID 10973252 DOI: 10.1038/79208  0.319
2000 Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology. 55: 341-6. PMID 10932264 DOI: 10.1212/Wnl.55.3.341  0.356
2000 Varley H, Di S, Scherer SW, Royle NJ. Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition American Journal of Human Genetics. 67: 610-622. PMID 10924407 DOI: 10.1086/303050  0.358
2000 Vincent JB, Skaug J, Scherer SW. The Human Homologue of Flamingo, EGFL2, Encodes a Brain-Expressed Large Cadherin-Like Protein with Epidermal Growth Factor-Like Domains, and Maps to Chromosome 1p13.3-p21.1 Dna Research. 7: 233-235. PMID 10907856 DOI: 10.1093/Dnares/7.3.233  0.336
2000 Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. American Journal of Human Genetics. 67: 510-4. PMID 10889047 DOI: 10.1086/303005  0.456
2000 Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Clinical Genetics. 57: 388-93. PMID 10852374 DOI: 10.1034/J.1399-0004.2000.570510.X  0.361
2000 Meloche S, Gopalbhai K, Beatty BG, Scherer SW, Pellerin J. Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32. Cytogenetics and Cell Genetics. 88: 249-52. PMID 10828601 DOI: 10.1159/000015530  0.31
2000 Hellman A, Rahat A, Scherer SW, Darvasi A, Tsui LC, Kerem B. Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Molecular and Cellular Biology. 20: 4420-7. PMID 10825205 DOI: 10.1128/Mcb.20.12.4420-4427.2000  0.345
2000 Grekova MC, Scherer SW, Trabb J, Richert JR. Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization. Journal of Neuroimmunology. 106: 214-9. PMID 10814800 DOI: 10.1016/S0165-5728(99)00264-7  0.353
2000 Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Identification of new and common mutations in the EPM2A gene in Lafora disease Neurology. 54: 488-488. PMID 10668720 DOI: 10.1212/Wnl.54.2.488  0.32
2000 Leclerc D, Odièvre M, Wu Q, Wilson A, Huizenga JJ, Rozen R, Scherer SW, Gravel RA. Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. Gene. 240: 75-88. PMID 10564814 DOI: 10.1016/S0378-1119(99)00431-X  0.349
2000 Vincent JB, Herbrick J, Palmour R, Szatmari P, Gurling HMD, Bryson S, Roberts W, Scherer SW. IDENTIFICATION AND CHARACTERIZATION OF GENES SPANNING TRANSLOCATION BREAKPOINTS ON CHROMOSOME 7q31 IN TWO PATIENTS WITH AUTISTIC DISORDER Biochemical Society Transactions. 28. DOI: 10.1042/Bst028A303A  0.432
2000 Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Annals of Neurology. 47: 666-669. DOI: 10.1002/1531-8249(200005)47:5<666::Aid-Ana19>3.0.Co;2-N  0.331
2000 Vincent JB, Herbrick JA, Palmour R, Szatmari P, Gurling H, Bryson S, Roberts W, Scherer SW. Identification and characterization of genes spanning translocation breakpoints on chromosome 7q31 in two patients with autistic disorder American Journal of Medical Genetics - Neuropsychiatric Genetics. 96: 544.  0.32
1999 Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenetics and Cell Genetics. 87: 197-8. PMID 10702666 DOI: 10.1159/000015465  0.328
1999 Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). Cytogenetic and Genome Research. 87: 191-194. PMID 10702664 DOI: 10.1159/000015463  0.333
1999 Beatty BG, Qi S, Pienkowska M, Herbrick JA, Scheidl T, Zhang ZM, Kola I, Scherer SW, Seth A. Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21 Genomics. 62: 529-532. PMID 10644453 DOI: 10.1006/Geno.1999.5999  0.373
1999 Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics. 62: 289-92. PMID 10610724 DOI: 10.1006/Geno.1999.6006  0.373
1999 Yousef GM, Luo LY, Scherer SW, Sotiropoulou G, Diamandis EP. Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease. Genomics. 62: 251-9. PMID 10610719 DOI: 10.1006/Geno.1999.6012  0.405
1999 Csóka AB, Scherer SW, Stern R. Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics. 60: 356-361. PMID 10493834 DOI: 10.1006/Geno.1999.5876  0.395
1999 Tosi S, Giudici G, Rambaldi A, Scherer SW, Bray-Ward P, Dirscherl L, Biondi A, Kearney L. Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization Genes, Chromosomes and Cancer. 24: 213-221. PMID 10451701 DOI: 10.1002/(Sici)1098-2264(199903)24:3<213::Aid-Gcc6>3.0.Co;2-B  0.37
1999 Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, ... Scherer S, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics. 22: 336-45. PMID 10431236 DOI: 10.1038/11905  0.362
1999 Tosi S, Scherer SW, Giudici G, Czepulkowski B, Biondi A, Kearney L. Delineation of multiple deleted regions in 7q in myeloid disorders. Genes, Chromosomes and Cancer. 25: 384-392. PMID 10398433 DOI: 10.1002/(Sici)1098-2264(199908)25:4<384::Aid-Gcc11>3.0.Co;2-D  0.421
1999 Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nature Genetics. 22: 159-63. PMID 10369257 DOI: 10.1038/9667  0.397
1999 Heus HC, Hing A, Baren MJv, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics. 57: 342-351. PMID 10329000 DOI: 10.1006/Geno.1999.5796  0.363
1999 de Silva MG, Kantharidis P, Scherer SW, Rayeroux K, Campbell L, Tsui LC, Zalcberg JR. Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype. Cancer Genetics and Cytogenetics. 110: 28-33. PMID 10198619 DOI: 10.1016/S0165-4608(98)00195-2  0.395
1999 Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics. 57: 279-84. PMID 10198167 DOI: 10.1006/Geno.1999.5784  0.459
1999 Crackower MA, Sinasac DS, Xia J, Motoyama J, Prochazka M, Rommens JM, Scherer SW, Tsui LC. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics. 55: 257-67. PMID 10049579 DOI: 10.1006/Geno.1998.5665  0.369
1999 Hadano S, Nichol K, Brinkman RR, Nasir J, Martindale D, Koop BF, Nicholson DW, Scherer SW, Ikeda JE, Hayden MR. A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. Genomics. 55: 106-12. PMID 9889004 DOI: 10.1006/Geno.1998.5637  0.392
1998 de la Puente A, Velasco E, Pérez Jurado LA, Hernández-Chico C, van de Rijke FM, Scherer SW, Raap AK, Cruces J. Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7. Cytogenetics and Cell Genetics. 83: 176-81. PMID 10072574 DOI: 10.1159/000015175  0.345
1998 Jadayel DM, Osborne LR, Coignet LJA, Zani VJ, Tsui L, Scherer SW, Dyer MJS. The BCL7 gene family: deletion of BCL7B in Williams syndrome Gene. 224: 35-44. PMID 9931421 DOI: 10.1016/S0378-1119(98)00514-9  0.423
1998 Egan S, Herbrick JA, Tsui LC, Cohen B, Flock G, Beatty B, Scherer SW. Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. Genomics. 54: 576-7. PMID 9878264 DOI: 10.1006/Geno.1998.5559  0.343
1998 Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genetics. 20: 358-61. PMID 9843207 DOI: 10.1038/3828  0.323
1998 Hegele RA, Harris SB, Connelly PW, Hanley AJG, Tsui LC, Zinman B, Scherer SW. Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree Clinical Genetics. 54: 394-399. PMID 9842991 DOI: 10.1111/J.1399-0004.1998.Tb03752.X  0.306
1998 Mansour SJ, Herbrick JA, Scherer SW, Melançon P. Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. Genomics. 54: 323-7. PMID 9828135 DOI: 10.1006/Geno.1998.5563  0.366
1998 Ogino H, Nakabayashi K, Michishita E, Scherer SW, Fujii M, Suzuki T, Ayusawa D. Clustering of Human Chromosome Fragments on the Mouse Genome by Chromosome-Mediated Gene Transfer Dna Research. 5: 247-250. PMID 9802571 DOI: 10.1093/Dnares/5.4.247  0.376
1998 Glöckner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui L, Rosenthal A. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Genome Research. 8: 1060-1073. PMID 9799793 DOI: 10.1101/Gr.8.10.1060  0.455
1998 Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC, Lopes-Cendes I, ... ... Scherer SW, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nature Genetics. 20: 171-4. PMID 9771710 DOI: 10.1038/2470  0.392
1998 Haila S, Höglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, Chapelle Adl, Kere J. Genomic structure of the human congenital chloride diarrhea (CLD) gene Gene. 214: 87-93. PMID 9729124 DOI: 10.1016/S0378-1119(98)00261-3  0.428
1998 Mochizuki H, Scherer SW, Xi T, Nickle DC, Majer M, Huizenga JJ, Tsui LC, Prochazka M. Human PON2 gene at 7q21.3: Cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence Gene. 213: 149-157. PMID 9714608 DOI: 10.1016/S0378-1119(98)00193-0  0.348
1998 Boright AP, Connelly PW, Brunt JH, Scherer SW, Tsui LC, Hegele RA. Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites Atherosclerosis. 139: 131-136. PMID 9699900 DOI: 10.1016/S0021-9150(98)00071-9  0.327
1998 Mishmar D, Rahat A, Scherer SW, Nyakatura G, Hinzmann B, Kohwi Y, Mandel-Gutfroind Y, Lee JR, Drescher B, Sas DE, Margalit H, Platzer M, Weiss A, Tsui LC, Rosenthal A, et al. Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proceedings of the National Academy of Sciences of the United States of America. 95: 8141-6. PMID 9653154 DOI: 10.1073/Pnas.95.14.8141  0.324
1998 Luo L, Herbrick JA, Scherer SW, Beatty B, Squire J, Diamandis EP. Structural characterization and mapping of the normal epithelial cell-specific 1 gene. Biochemical and Biophysical Research Communications. 247: 580-6. PMID 9647736 DOI: 10.1006/Bbrc.1998.8793  0.406
1998 Coyle B, Reardon W, Herbrick J, Tsui L, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC. Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre) Human Molecular Genetics. 7: 1105-1112. PMID 9618167 DOI: 10.1093/Hmg/7.7.1105  0.352
1998 Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, ... ... Scherer SW, et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Human Genetics. 102: 387-92. PMID 9600232 DOI: 10.1007/S004390050709  0.399
1998 Torigoe K, Harada T, Kusaba H, Uchiumi T, Kohno K, Green ED, Scherer SW, Tsui LC, Schlessinger D, Kuwano M, Wada M. Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. Genomics. 49: 14-22. PMID 9570944 DOI: 10.1006/Geno.1997.5200  0.408
1998 White JA, Beckett B, Scherer SW, Herbrick JA, Petkovich M. P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3. Genomics. 48: 270-2. PMID 9521883 DOI: 10.1006/Geno.1997.5157  0.332
1998 Csóka TB, Frost GI, Heng HHQ, Scherer SW, Mohapatra G, Stern R. The Hyaluronidase Gene HYAL1 Maps to Chromosome 3p21.2–p21.3 in Human and 9F1–F2 in Mouse, a Conserved Candidate Tumor Suppressor Locus ☆ ☆☆ Genomics. 48: 63-70. PMID 9503017 DOI: 10.1006/Geno.1997.5158  0.402
1998 Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HHQ, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria Proceedings of the National Academy of Sciences of the United States of America. 95: 3059-3064. PMID 9501215 DOI: 10.1073/Pnas.95.6.3059  0.34
1998 Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH. Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency Human Molecular Genetics. 7: 501-505. PMID 9467010 DOI: 10.1093/Hmg/7.3.501  0.322
1998 Fischer K, Brown J, Scherer SW, Schramm P, Stewart J, Fugazza G, Pascheberg U, Peter W, Tsui LC, Lichter P, Döhner H. Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias. Recent Results in Cancer Research. 144: 46-52. PMID 9304706 DOI: 10.1007/978-3-642-46836-0_6  0.418
1998 Döhner K, Brown J, Hehmann U, Hetzel C, Stewart J, Lowther G, Scholl C, Fröhling S, Cuneo A, Tsui LC, Lichter P, Scherer SW, Döhner H. Molecular Cytogenetic Characterization of a Critical Region in Bands 7q35-q36 Commonly Deleted in Malignant Myeloid Disorders Blood. 92: 4031-4035. DOI: 10.1007/978-3-642-18156-6_3  0.354
1997 Kusaba H, Nakayama M, Harada T, Torigoe K, Green ED, Scherer SW, Kohno K, Kuwano M, Wada M. Maintenance of hypomethylation status and preferential expression of exogenous human MDR1/PGY1 gene in mouse L cells by YAC mediated transfer. Somatic Cell and Molecular Genetics. 23: 259-274. PMID 9542528 DOI: 10.1007/Bf02674417  0.33
1997 Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 91: 543-53. PMID 9390563 DOI: 10.1016/S0092-8674(00)80440-7  0.382
1997 Duh FM, Scherer SW, Tsui LC, Lerman MI, Zbar B, Schmidt L. Gene structure of the human MET proto-oncogene. Oncogene. 15: 1583-6. PMID 9380410 DOI: 10.1038/Sj.Onc.1201338  0.374
1997 Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics. 45: 541-53. PMID 9367679 DOI: 10.1006/Geno.1997.4967  0.374
1997 Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics. 45: 402-6. PMID 9344666 DOI: 10.1006/Geno.1997.4923  0.422
1997 Hegele RA, Connelly PW, Scherer SW, Hanley AJG, Harris SB, Tsui LC, Zinman B. Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus Journal of Clinical Endocrinology and Metabolism. 82: 3373-3377. PMID 9329371 DOI: 10.1210/Jcem.82.10.4289  0.362
1997 Osborne LR, Soder S, Shi X, Pober B, Costa T, Scherer SW, Tsui L. Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome American Journal of Human Genetics. 61: 449-452. PMID 9311751 DOI: 10.1086/514850  0.32
1997 Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly Human Molecular Genetics. 6: 1847-1853. PMID 9302262 DOI: 10.1093/Hmg/6.11.1847  0.319
1997 Scherer SW, Soder S, Duvoisin RM, Huizenga JJ, Tsui LC. The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. Genomics. 44: 232-6. PMID 9299241 DOI: 10.1006/Geno.1997.4842  0.396
1997 Crackower MA, Heng HH, Shi X, Scherer SW, Tsui LC. Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 8: 704. PMID 9271682 DOI: 10.1007/S003359900629  0.333
1997 Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Human Genetics. 100: 172-81. PMID 9254845 DOI: 10.1007/s004390050486  0.355
1997 Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui L, Füchtbauer E, Grzeschik K, Tsuji K, Kunz J. Translocation Breakpoint Maps 5 kb 3′ from TWIST in a Patient Affected with Saethre-Chotzen Syndrome Human Molecular Genetics. 6: 1079-1086. PMID 9215678 DOI: 10.1093/Hmg/6.7.1079  0.323
1997 Edelson MI, Scherer SW, Tsui LC, Welch WR, Bell DA, Berkowitz RS, Mok SC. Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas Oncogene. 14: 2979-2984. PMID 9205105 DOI: 10.1038/Sj.Onc.1201271  0.31
1997 Zeng WR, Scherer SW, Koutsilieris M, Huizenga JJ, Filteau F, Tsui LC, Nepveu A. Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas. Oncogene. 14: 2355-65. PMID 9178912 DOI: 10.1038/Sj.Onc.1201076  0.413
1997 Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nature Genetics. 16: 68-73. PMID 9140397 DOI: 10.1038/Ng0597-68  0.328
1997 Tambini CE, George AM, Rommens JM, Tsui LC, Scherer SW, Thacker J. The XRCC2 DNA repair gene: Identification of a positional candidate Genomics. 41: 84-92. PMID 9126486 DOI: 10.1006/Geno.1997.4636  0.388
1997 Alley TL, Scherer SW, Huizenga JJ, Tsui L, Wallace MR. Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). American Journal of Medical Genetics. 68: 279-281. PMID 9024559 DOI: 10.1002/(Sici)1096-8628(19970131)68:3<279::Aid-Ajmg6>3.0.Co;2-H  0.41
1997 Fischer K, Fröhling S, Scherer SW, Brown JMA, Scholl C, Stilgenbauer S, Tsui LC, Lichter P, Döhner H. Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias Blood. 89: 2036-2041. DOI: 10.1182/Blood.V89.6.2036  0.37
1997 Cotter FE, Johnson EJ, Todd R, Scherer SW, Osborne L, Tsui L, Oscier D, Mould S. 141 Molecular definition of two narrow interval at 7q22.1 and 7Q34 associated with myelodysplasia Leukemia Research. 21. DOI: 10.1016/S0145-2126(97)81351-3  0.311
1996 Schanen NC, Scherer SW, Tsui LC, Francke U. Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1 Cytogenetics and Cell Genetics. 72: 187-188. PMID 8978771 DOI: 10.1159/000134184  0.333
1996 Gaedigk R, Karges W, Hui MF, Scherer SW, Dosch HM. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. Genomics. 38: 382-91. PMID 8975715 DOI: 10.1006/Geno.1996.0641  0.319
Show low-probability matches.