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Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Braden RO, et al. Among authors: srivastava s. Dev Med Child Neurol. 2021 Dec;63(12):1417-1426. doi: 10.1111/dmcn.14955. Epub 2021 Jun 9. Dev Med Child Neurol. 2021. PMID: 34109629 Free article.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW. Ballout RA, et al. Among authors: srivastava s. Hum Mutat. 2020 Jul;41(7):1238-1249. doi: 10.1002/humu.24009. Epub 2020 Mar 12. Hum Mutat. 2020. PMID: 32112660 Free PMC article.
Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Srivastava S, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8. Ann Clin Transl Neurol. 2020. PMID: 32147972 Free PMC article.
Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW. Jansen NA, et al. Among authors: srivastava s. Eur J Hum Genet. 2021 Aug;29(8):1198-1205. doi: 10.1038/s41431-021-00888-9. Epub 2021 Apr 19. Eur J Hum Genet. 2021. PMID: 33867525 Free PMC article.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A, Braden R, Wong MMK, Colin E, Amor D, Liégeois F, Srivastava S, Vogel A, Bizaoui V, Ranguin K, Fisher SE, van Bon BW. Morgan A, et al. Among authors: srivastava s. Eur J Hum Genet. 2021 Aug;29(8):1216-1225. doi: 10.1038/s41431-021-00894-x. Epub 2021 Apr 27. Eur J Hum Genet. 2021. PMID: 33907317 Free PMC article.
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A, Snyder LG, Babington O, Chung WK, Sahin M, Srivastava S. Mo A, et al. Among authors: srivastava s. Dev Med Child Neurol. 2022 May;64(5):654-661. doi: 10.1111/dmcn.15100. Epub 2021 Oct 26. Dev Med Child Neurol. 2022. PMID: 34704275 Free PMC article.
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Among authors: srivastava s. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: srivastava s. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
6,156 results