Walker, Susan

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

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

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

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

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

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

Cited by 216

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

Cited by 200

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

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

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

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

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

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

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