Scherer, Stephen W.

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 2,892

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 2,882

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,746

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2018) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,323

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,321

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 2,013

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,970

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,815

The Diploid Genome Sequence of an Individual Human

Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,778

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics

Cholesterol and Lipid MetabolismLipid metabolism and disorders

Cited by 1,687

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1996) · Nature Genetics

Fetal and Pediatric Neurological DisordersHedgehog Signaling Pathway Studies

Cited by 1,152

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Initiative, A. N. G., Watson, H. J., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Yilmaz, Z., Thornton, L. M., Hübel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., et al. (2019) · Nature Genetics

Eating Disorders and BehaviorsGenetic Associations and Epidemiology

Cited by 1,109

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,058

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 969

A copy number variation map of the human genome

Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 921

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 844

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 695

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 681

Copy-number variations associated with neuropsychiatric conditions

Cook Jr, E. H., & Scherer, S. W. (2008) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 659

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

Mack, S. C., Witt, H., Piro, R. M., Gu, L., Zuyderduyn, S., Stütz, A. M., Wang, X., Gallo, M., Garzia, L., Zayne, K., et al. (2014) · Nature

Glioma Diagnosis and TreatmentEpigenetics and DNA Methylation

Cited by 607

Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

Bigham, A., Bauchet, M., Pinto, D., Mao, X., Akey, J. M., Mei, R., Scherer, S. W., Julian, C. G., Wilson, M. J., López Herráez, D., et al. (2010) · PLoS Genetics

High Altitude and HypoxiaForensic and Genetic Research

Cited by 597