| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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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