Scherer, Stephen W.

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 563

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 557

Genetic architecture in autism spectrum disorder

Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 545

Whole-genome sequencing of quartet families with autism spectrum disorder

Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., et al. (2015) · Nature Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 514

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Jiang, Y.-H., Yuen, R. K. C., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J., Mei, J., Shi, Y., He, M., et al. (2013) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 474

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 429

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Tammimies, K., Marshall, C. R., Walker, S., Kaur, G., Thiruvahindrapuram, B., Lionel, A. C., Yuen, R. K. C., Uddin, M., Roberts, W., Weksberg, R., et al. (2015) · JAMA

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 419

Individual common variants exert weak effects on the risk for autism spectrum disorders

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 375

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 344

Towards a comprehensive structural variation map of an individual human genome

Pang, A. W., MacDonald, J. R., Pinto, D., Wei, J., Rafiq, M. A., Conrad, D. F., Park, H., Hurles, M. E., Lee, C., Venter, J. C., et al. (2010) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 335

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 335

SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., et al. (2012) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 318

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Lim, E. T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A. S., Zhang, X., D'Gama, A. M., Kim, S. N., Hill, R. S., Goldberg, A. P., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 299

Molecular Cloning of the Human Gene, PNKP, Encoding a Polynucleotide Kinase 3′-Phosphatase and Evidence for Its Role in Repair of DNA Strand Breaks Caused by Oxidative Damage

Jilani, A., Ramotar, D., Slack, C., Ong, C., Yang, X. M., Scherer, S. W., & Lasko, D. D. (1999) · Journal of Biological Chemistry

DNA Repair MechanismsEffects of Radiation Exposure

Cited by 293

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

Williams, N. M., Franke, B., Mick, E., Anney, R. J. L., Freitag, C. M., Gill, M., Thapar, A., O'Donovan, M. C., Owen, M. J., Holmans, P., et al. (2012) · American Journal of Psychiatry

Genomic variations and chromosomal abnormalitiesAttention Deficit Hyperactivity Disorder

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Genome-wide detection of tandem DNA repeats that are expanded in autism

Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

Genome-wide characteristics of de novo mutations in autism

Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., et al. (2016) · npj Genomic Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Paternally inherited cis-regulatory structural variants are associated with autism

Brandler, W. M., Antaki, D., Gujral, M., Kleiber, M. L., Whitney, J., Maile, M. S., Hong, O., Chapman, T. R., Tan, S., Tandon, P., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

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A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

Prasad, A., Merico, D., Thiruvahindrapuram, B., Wei, J., Lionel, A. C., Sato, D., Rickaby, J., Lu, C., Szatmari, P., Roberts, W., et al. (2012) · G3 Genes|Genomes|Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics

Congenital Ear and Nasal AnomaliesEpigenetics and DNA Methylation

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., et al. (2012) · Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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