Shashi, Vandana

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,351

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., et al. (2014) · American Journal of Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 779

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 359

Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia

Greene, C., Kealy, J., Humphries, M. M., Gong, Y., Hou, J., Hudson, N., Cassidy, L. M., Martiniano, R., Shashi, V, Hooper, S. R., et al. (2018) · Molecular Psychiatry

Schizophrenia research and treatmentBarrier Structure and Function Studies

Cited by 235

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

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain‐of‐function variant

Millichap, J. J., Miceli, F., De Maria, M., Keator, C., Joshi, N., Tran, B., Soldovieri, M. V., Ambrosino, P., Shashi, V., Mikati, M. A., et al. (2017) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 103

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

Chakraborty, D., Bernal, A. J., Schoch, K., Howard, T. D., Ip, E. H., Hooper, S. R., Keshavan, M. S., Jirtle, R. L., & Shashi, V (2012) · Translational Psychiatry

Genomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting

Cited by 30

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A

dental development and anomaliesHearing, Cochlea, Tinnitus, Genetics

Cited by 20