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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, Marshall CR, Srivastava S, Godlewski B, Buttermore ED, Sahin M, Hartley D, Frazier T, Vorstman J, Georgiades S, Lewis SME, Szatmari P, Bradley CAL, Tabet AC, Willems M, Lumbroso S, Piton A, Lespinasse J, Delorme R, Bourgeron T, Anagnostou E, Scherer SW. Loureiro LO, et al. Among authors: srivastava s. NPJ Genom Med. 2021 Nov 4;6(1):91. doi: 10.1038/s41525-021-00254-0. NPJ Genom Med. 2021. PMID: 34737294 Free PMC article.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Srivastava S, et al. Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11. Genet Med. 2019. PMID: 31182824 Free PMC article.
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Srivastava S, et al. Genet Med. 2020 Oct;22(10):1731-1732. doi: 10.1038/s41436-020-0913-3. Genet Med. 2020. PMID: 32728138 Free PMC article.
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.
Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY; Developmental Synaptopathies Consortium. Uljarević M, et al. Among authors: srivastava s. J Autism Dev Disord. 2022 Jan;52(1):414-422. doi: 10.1007/s10803-021-04881-5. Epub 2021 Feb 17. J Autism Dev Disord. 2022. PMID: 33595755 Free PMC article.
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.
Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY; Developmental Synaptopathies Consortium. Uljarević M, et al. Among authors: srivastava s. Am J Med Genet A. 2021 Nov;185(11):3401-3410. doi: 10.1002/ajmg.a.62458. Epub 2021 Aug 23. Am J Med Genet A. 2021. PMID: 34423884 Free PMC article.
Psychiatric Characteristics Across Individuals With PTEN Mutations.
Steele M, Uljarević M, Rached G, Frazier TW, Phillips JM, Libove RA, Busch RM, Klaas P, Martinez-Agosto JA, Srivastava S, Eng C, Sahin M, Hardan AY. Steele M, et al. Among authors: srivastava s. Front Psychiatry. 2021 Aug 17;12:672070. doi: 10.3389/fpsyt.2021.672070. eCollection 2021. Front Psychiatry. 2021. PMID: 34489750 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.
6,412 results