| 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 | 563 | 2019 |
| Clinical whole exome sequencing in child neurology practice S Srivastava, JS Cohen, H Vernon, K Baraņano, R McClellan, L Jamal, ... Annals of neurology 76 (4), 473-483, 2014 | 315 | 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 | 117 | 2016 |
| 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 | 114 | 2021 |
| 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 | 99 | 2017 |
| 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 | 91 | 2019 |
| 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 | 87 | 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 | 85 | 2014 |
| 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 | 84 | 2021 |
| Autism spectrum disorder and epileptic encephalopathy: common causes, many questions S Srivastava, M Sahin Journal of neurodevelopmental disorders 9 (1), 1-11, 2017 | 61 | 2017 |
| Monogenic disorders that mimic the phenotype of Rett syndrome S Srivastava, S Desai, J Cohen, C Smith-Hicks, K Baraņano, A Fatemi, ... Neurogenetics 19 (1), 41-47, 2018 | 60 | 2018 |
| Alexander disease S Srivastava, A Waldman, S Naidu | 56 | 2020 |
| 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 | 54 | 2016 |
| 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 | 53 | 2022 |
| 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 | 50 | 2016 |
| 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 | 48 | 2022 |
| 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 | 46 | 2017 |
| 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 | 44 | 2014 |
| The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction L Lenaerts, S Reynhout, I Verbinnen, F Laumonnier, A Toutain, ... Genetics in Medicine 23 (2), 352-362, 2021 | 41 | 2021 |
| 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 | 40 | 2017 |
