Stephen W. Scherer - Publications

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

148 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 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  0.349
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  0.319
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  0.335
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  0.329
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  0.305
2021 Povysil G, Butler-Laporte G, Shang N, Wang C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh RJM, Bourgey M, Aziz N, Jones SJ, Knoppers B, Scherer SW, et al. Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. The Journal of Clinical Investigation. PMID 34043590 DOI: 10.1172/JCI147834  0.309
2020 Povysil G, Butler-Laporte G, Shang N, Weng C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh R, Bourgey M, Aziz N, Jones S, Knoppers B, Scherer S, et al. Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19. Medrxiv : the Preprint Server For Health Sciences. PMID 33398295 DOI: 10.1101/2020.12.18.20248226  0.309
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  0.326
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  0.333
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  0.32
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  0.33
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  0.305
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  0.353
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  0.301
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  0.306
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  0.329
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  0.619
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  0.36
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  0.302
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  0.689
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  0.329
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  0.305
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  0.321
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  0.32
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  0.302
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  0.305
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  0.619
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  0.313
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  0.672
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  0.697
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  0.344
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  0.348
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  0.332
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  0.369
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  0.329
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  0.324
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  0.321
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  0.317
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  0.644
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  0.326
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  0.646
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  0.351
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  0.618
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  0.311
2016 Scherer SW, Vincent JB. Biomarkers for autism spectrum disorders European Neuropsychopharmacology. 26. DOI: 10.1016/S0924-977X(16)30934-8  0.315
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  0.65
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  0.619
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  0.685
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  0.314
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  0.714
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  0.329
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  0.686
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  0.304
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  0.313
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  0.64
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  0.711
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  0.658
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  0.308
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  0.687
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  0.674
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  0.307
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  0.307
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  0.711
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  0.314
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  0.705
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  0.308
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  0.72
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  0.713
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  0.312
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  0.353
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  0.71
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  0.687
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  0.676
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  0.704
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  0.698
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  0.32
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  0.326
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  0.352
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  0.336
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  0.654
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  0.691
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  0.323
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  0.695
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  0.722
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  0.709
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  0.667
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  0.622
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  0.619
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  0.707
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  0.689
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  0.72
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  0.303
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  0.644
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  0.7
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  0.682
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  0.697
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  0.328
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  0.643
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  0.318
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  0.307
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  0.354
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  0.698
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  0.699
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  0.334
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  0.662
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  0.303
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  0.675
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  0.332
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  0.392
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  0.695
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  0.696
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  0.725
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  0.357
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  0.337
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  0.695
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  0.701
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  0.696
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  0.319
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  0.36
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  0.309
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  0.712
2008 Cook EH, Scherer SW. Copy-number variations associated with neuropsychiatric conditions Nature. 455: 919-923. PMID 18923514 DOI: 10.1038/Nature07458  0.326
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  0.662
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  0.716
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  0.305
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  0.306
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  0.307
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  0.304
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  0.355
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  0.324
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  0.321
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  0.316
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  0.3
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  0.338
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  0.328
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  0.306
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  0.302
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  0.336
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  0.327
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  0.335
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  0.355
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  0.302
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  0.324
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  0.304
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  0.325
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  0.301
1996 Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development Human Molecular Genetics. 5: 571-579. PMID 8733122 DOI: 10.1093/Hmg/5.5.571  0.305
1994 Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, Evans JP. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. American Journal of Human Genetics. 55: 21-6. PMID 7912888  0.306
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