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Siddharth Srivastava
Siddharth Srivastava
Harvard Medical School, Boston Children's Hospital
Dirección de correo verificada de childrens.harvard.edu - Página principal
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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
4452019
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
3052014
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
1082016
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
862017
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
812021
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
792019
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
772015
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
762014
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
602021
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
S Srivastava, M Sahin
Journal of neurodevelopmental disorders 9 (1), 1-11, 2017
522017
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
502018
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
492016
Alexander disease
S Srivastava, A Waldman, S Naidu
462020
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
452017
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
432016
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
382017
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
382014
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
T Levy, JH Foss-Feig, C Betancur, PM Siper, MP Trelles-Thorne, ...
Human Molecular Genetics 31 (4), 625-637, 2022
342022
Behavioral and Psychiatric Manifestations in Cornelia de Lange Syndrome (CdLS)
M Grados, H Alvi, S Srivastava
Current opinion in psychiatry 30 (2), 92, 2017
332017
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
M Chopra, DL Gable, J Love‐Nichols, A Tsao, S Rockowitz, P Sliz, ...
Annals of clinical and translational neurology 9 (2), 193-205, 2022
312022
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