Nelson, Stanley F.

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

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 818

Genome sequencing highlights the dynamic early history of dogs

Freedman, A. H., Gronau, I., Schweizer, R. M., Ortega-Del Vecchyo, D., Han, E., Silva, P. M., Galaverni, M., Fan, Z., Marx, P., Lorente-Galdos, B., et al. (2014) · PLoS Genetics

Human-Animal Interaction StudiesGenetic diversity and population structure

Cited by 624

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

Cited by 593

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

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

Cited by 290

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Wan, J., Yourshaw, M., Mamsa, H., Rudnik-Schöneborn, S., Menezes, M. P., Hong, J. E., Leong, D. W., Senderek, J., Salman, M. S., Chitayat, D., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 257

Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism

Smalley, S. L., Kustanovich, V., Minassian, S. L., Stone, J. L., Ogdie, M. N., McGough, J. J., McCracken, J. T., MacPhie, I. L., Francks, C., Fisher, S. E., et al. (2002) · The American Journal of Human Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 240

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

Cited by 200

Evidence for linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD)

McCracken, J. T., Smalley, S. L., McGough, J. J., Crawford, L., Del'Homme, M., Cantor, R. M., Liu, A., & Nelson, S. F. (2000) · Molecular Psychiatry

Attention Deficit Hyperactivity DisorderNeurotransmitter Receptor Influence on Behavior

Cited by 189

Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder

Stone, J. L., Merriman, B., Cantor, R. M., Yonan, A. L., Gilliam, T. C., Geschwind, D. H., & Nelson, S. F. (2004) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 176

Replication of Autism Linkage: Fine-Mapping Peak at 17q21

Cantor, R. M., Kono, N., Duvall, J. A., Alvarez-Retuerto, A., Stone, J. L., Alarcón, M., Nelson, S. F., & Geschwind, D. H. (2005) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 157

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11

Ogdie, M. N., Fisher, S. E., Yang, M., Ishii, J., Francks, C., Loo, S. K., Cantor, R. M., McCracken, J. T., McGough, J. J., Smalley, S. L., et al. (2004) · The American Journal of Human Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 133

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

Demographically-based evaluation of genomic regions under selection in domestic dogs

Freedman, A. H., Schweizer, R. M., Ortega-Del Vecchyo, D., Han, E., Davis, B. W., Gronau, I., Silva, P. M., Galaverni, M., Fan, Z., Marx, P., et al. (2016) · PLoS Genetics

Genetic and phenotypic traits in livestockHuman-Animal Interaction Studies

Cited by 104

Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings

Palmer, N., Beam, A., Agniel, D., Eran, A., Manrai, A., Spettell, C., Steinberg, G., Mandl, K., Fox, K., Nelson, S. F., et al. (2017) · JAMA Pediatrics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 89

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Chia, P. H., Zhong, F. L., Niwa, S., Bonnard, C., Utami, K. H., Zeng, R., Lee, H., Eskin, A., Nelson, S. F., Xie, W. H., et al. (2018) · eLife

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71