|Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders|
S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ...
Genetics in Medicine 21 (11), 2413-2421, 2019
|Clinical whole exome sequencing in child neurology practice|
S Srivastava, JS Cohen, H Vernon, K Barañano, R McClellan, L Jamal, ...
Annals of neurology 76 (4), 473-483, 2014
|Update on leukodystrophies: a historical perspective and adapted definition|
SH Kevelam, ME Steenweg, S Srivastava, G Helman, S Naidu, ...
Neuropediatrics 47 (06), 349-354, 2016
|Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes|
CGF De Kovel, S Syrbe, EH Brilstra, N Verbeek, B Kerr, H Dubbs, A Bayat, ...
JAMA neurology 74 (10), 1228-1236, 2017
|ELP2 is a novel gene implicated in neurodevelopmental disabilities|
JS Cohen, S Srivastava, KD Farwell, HM Lu, W Zeng, H Lu, EC Chao, ...
American journal of medical genetics Part A 167 (6), 1391-1395, 2015
|A novel variant in GABRB2 associated with intellectual disability and epilepsy|
S Srivastava, J Cohen, J Pevsner, S Aradhya, D McKnight, E Butler, ...
American journal of medical genetics Part A 164 (11), 2914-2921, 2014
|Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN|
RM Busch, S Srivastava, O Hogue, TW Frazier, P Klaas, A Hardan, ...
Translational psychiatry 9 (1), 1-9, 2019
|Monogenic disorders that mimic the phenotype of Rett syndrome|
S Srivastava, S Desai, J Cohen, C Smith-Hicks, K Barañano, A Fatemi, ...
Neurogenetics 19 (1), 41-47, 2018
|Autism spectrum disorder and epileptic encephalopathy: common causes, many questions|
S Srivastava, M Sahin
Journal of neurodevelopmental disorders 9 (1), 1-11, 2017
|Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications|
KM Johannesen, Y Liu, CE Gjerulfsen, M Koko, L Sonnenberg, J Schubert, ...
Cold Spring Harbor Laboratory Press, 2021
|Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy|
BE Theisen, A Rumyantseva, JS Cohen, WA Alcaraz, DN Shinde, S Tang, ...
American Journal of Medical Genetics Part A 173 (9), 2505-2510, 2017
|Loss-of-function variants in HIVEP2 are a cause of intellectual disability|
S Srivastava, H Engels, I Schanze, K Cremer, T Wieland, M Menzel, ...
European Journal of Human Genetics 24 (4), 556-561, 2016
|Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders|
MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ...
Genome medicine 13 (1), 1-26, 2021
|BRAT1 mutations present with a spectrum of clinical severity|
S Srivastava, HE Olson, JS Cohen, CS Gubbels, S Lincoln, BT Davis, ...
American Journal of Medical Genetics Part A 170 (9), 2265-2273, 2016
S Srivastava, A Waldman, S Naidu
|Autism traits in children and adolescents with Cornelia de Lange syndrome|
S Srivastava, C Landy‐Schmitt, B Clark, AD Kline, M Specht, MA Grados
American Journal of Medical Genetics Part A 164 (6), 1400-1410, 2014
|Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features|
JS Cohen, S Srivastava, KD Farwell Hagman, DN Shinde, R Huether, ...
Clinical genetics 91 (5), 697-707, 2017
|Behavioral and Psychiatric Manifestations in Cornelia de Lange Syndrome (CdLS)|
M Grados, H Alvi, S Srivastava
Current opinion in psychiatry 30 (2), 92, 2017
|Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability|
S Neuser, B Brechmann, G Heimer, I Brösse, S Schubert, L O'Grady, ...
Human mutation 42 (6), 762-776, 2021
|Evaluation of QTc in Rett syndrome: correlation with age, severity, and genotype|
J Crosson, S Srivastava, GM Bibat, S Gupta, A Kantipuly, C Smith‐Hicks, ...
American Journal of Medical Genetics Part A 173 (6), 1495-1501, 2017