Scherer, Stephen W.

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Trost, B., Walker, S., Wang, Z., Thiruvahindrapuram, B., MacDonald, J. R., Sung, W. W. L., Pereira, S. L., Whitney, J., Chan, A. J. S., Pellecchia, G., et al. (2018) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 191

A large data resource of genomic copy number variation across neurodevelopmental disorders

Zarrei, M., Burton, C. L., Engchuan, W., Young, E. J., Higginbotham, E. J., MacDonald, J. R., Trost, B., Chan, A. J. S., Walker, S., Lamoureux, S., et al. (2019) · npj Genomic Medicine

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 187

SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons

Zaslavsky, K., Zhang, W.-B., McCready, F. P., Rodrigues, D. C., Deneault, E., Loo, C., Zhao, M., Ross, P. J., El Hajjar, J., Romm, A., et al. (2019) · Nature Neuroscience

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 174

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling

Richter, M., Murtaza, N., Scharrenberg, R., White, S. H., Johanns, O., Walker, S., Yuen, R. K. C., Schwanke, B., Bedürftig, B., Henis, M., et al. (2019) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 169

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 163

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Berkel, S., Tang, W., Treviño, M., Vogt, M., Obenhaus, H. A., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., & Rappold, G. A. (2012) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 162

GWAS meta-analysis of suicide attempt: identification of 12 genome-wide significant loci and implication of genetic risks for specific health factors

Docherty, A. R., Mullins, N., Ashley-Koch, A. E., Qin, X., Coleman, J. R. I., Shabalin, A., Kang, J., Murnyak, B., Wendt, F., Adams, M., et al. (2023) · American Journal of Psychiatry

Genetic Associations and EpidemiologySuicide and Self-Harm Studies

Cited by 160

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Complete disruption of autism-susceptibility genes by gene editing predominantly reduces functional connectivity of isogenic human neurons

Deneault, E., White, S. H., Rodrigues, D. C., Ross, P. J., Faheem, M., Zaslavsky, K., Wang, Z., Alexandrova, R., Pellecchia, G., Wei, W., et al. (2018) · Stem Cell Reports

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 145

Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry

Obsessive-Compulsive Spectrum DisordersGenomic variations and chromosomal abnormalities

Cited by 141

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

International 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., et al. (2020) · Nature Medicine

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 139

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, G., Jobling, R., Walker, S., Reuter, M. S., Snell, M., Bowdin, S., Cohn, R. D., Dupuis, L., Hewson, S., Mercimek-Andrews, S., et al. (2018) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 138

Impact of Excessive Weight Gain on Cardiovascular Outcomes in Type 1 Diabetes: Results From the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Study

Purnell, J. Q., Braffett, B. H., Zinman, B., Gubitosi-Klug, R. A., Sivitz, W., Bantle, J. P., Ziegler, G., Cleary, P. A., Brunzell, J. D., DCCT/EDIC Research Group, et al. (2017) · Diabetes Care

Diabetes Management and ResearchDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 120

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Association and mutation analyses of 16p11.2 autism candidate genes

Kumar, R. A., Marshall, C. R., Badner, J. A., Babatz, T. D., Mukamel, Z., Aldinger, K. A., Sudi, J., Brune, C. W., Goh, G., KaraMohamed, S., et al. (2009) · PLoS ONE

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 95

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, J. R., Puffenberger, E. G., Christiano, A. M., Martinez-Mir, A., et al. (2005) · The American Journal of Human Genetics

Hair Growth and DisordersSkin and Cellular Biology Research

Cited by 90

A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes.

Xia, J., Scherer, S. W., Cohen, P. T., Majer, M., Xi, T., Norman, R. A., Knowler, W. C., Bogardus, C., & Prochazka, M. (1998) · Diabetes

Genetic Associations and EpidemiologyMetabolism, Diabetes, and Cancer

Cited by 86

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Reuter, M. S., Jobling, R., Chaturvedi, R. R., Manshaei, R., Costain, G., Heung, T., Curtis, M., Hosseini, S. M., Liston, E., Lowther, C., et al. (2019) · Genetics in Medicine

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 85

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Gazzellone, M. J., Zarrei, M., Burton, C. L., Walker, S., Uddin, M., Shaheen, S. M., Coste, J., Rajendram, R., Schachter, R. J., Colasanto, M., et al. (2016) · Journal of Neurodevelopmental Disorders

Obsessive-Compulsive Spectrum DisordersGenomic variations and chromosomal abnormalities

Cited by 77

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Uddin, M., Woodbury-Smith, M., Chan, A., Brunga, L., Lamoureux, S., Pellecchia, G., Yuen, R. K. C., Faheem, M., Stavropoulos, D. J., Drake, J., et al. (2017) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 57

Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)

Norris, S. A., Draper, C. E., Prioreschi, A., Smuts, C., Ware, L. J., Dennis, C., Awadalla, P., Bassani, D., Bhutta, Z., Briollais, L., et al. (2022) · BMJ Open

Birth, Development, and HealthMaternal and Neonatal Healthcare

Cited by 56

Identification of candidate intergenic risk loci in autism spectrum disorder

Walker, S., & Scherer, S. W. (2013) · BMC Genomics

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 55

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

Noh, H. J., Ponting, C. P., Boulding, H. C., Meader, S., Betancur, C., Buxbaum, J. D., Pinto, D., Marshall, C. R., Lionel, A. C., Scherer, S. W., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 54