Sheffield, Val C.

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

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peränen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., et al. (2007) · Cell

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 1,384

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

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Haider, N. B., Jacobson, S. G., Cideciyan, A. V., Swiderski, R., Streb, L. M., Searby, C., Beck, G., Hockey, R., Hanna, D. B., Gorman, S., et al. (2000) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 507

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

Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration

Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., & Sheffield, V. C. (2004) · New England Journal of Medicine

Retinal Diseases and TreatmentsRetinal Development and Disorders

Cited by 324

Examination of AVPR1a as an autism susceptibility gene

Wassink, T. H., Piven, J., Vieland, V. J., Pietila, J., Goedken, R. J., Folstein, S. E., & Sheffield, V. C. (2004) · Molecular Psychiatry

Autism Spectrum Disorder ResearchNeuroendocrine regulation and behavior

Cited by 212

Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

Tee, M. K., Abramsohn, M., Loewenthal, N., Harris, M., Siwach, S., Kaplinsky, A., Markus, B., Birk, O., Sheffield, V. C., Pavari, R., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 89

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis

Sheffield, V. (1997) · Human Molecular Genetics

Congenital heart defects researchGenetic Associations and Epidemiology

Cited by 86

Light aversion in mice depends on nonimage-forming irradiance detection

Thompson, S., Recober, A., Vogel, T. W., Kuburas, A., Owens, J. A., Sheffield, V. C., Russo, A. F., & Stone, E. M. (2010) · Behavioral Neuroscience

Circadian rhythm and melatoninRetinal Development and Disorders

Cited by 37

Inactivation of Bardet-Biedl syndrome genes causes kidney defects

Guo, D.-F., Beyer, A. M., Yang, B., Nishimura, D. Y., Sheffield, V. C., & Rahmouni, K. (2011) · American Journal of Physiology-Renal Physiology

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 27

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

Beyer, A. M., Guo, D.-F., Sheffield, V. C., & Rahmouni, K. (2010) · American Journal of Physiology-Heart and Circulatory Physiology

Genetic and Kidney Cyst DiseasesNitric Oxide and Endothelin Effects

Cited by 14