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Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Kothari C, Wack M, Hassen-Khodja C, Finan S, Savova G, O'Boyle M, Bliss G, Cornell A, Horn EJ, Davis R, Jacobs J, Kohane I, Avillach P. Kothari C, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):613-624. doi: 10.1002/ajmg.b.32579. Epub 2017 Sep 1. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 28862395 Free PMC article.
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P. Kothari C, et al. J Neurodev Disord. 2022 Mar 23;14(1):24. doi: 10.1186/s11689-022-09434-0. J Neurodev Disord. 2022. PMID: 35321655 Free PMC article.
Elongated Pterygoid Hamulus: A case Report.
Shah A, Guduba V, Tejaswini K, Kothari C. Shah A, et al. Among authors: kothari c. Indian J Otolaryngol Head Neck Surg. 2023 Dec;75(4):3830-3833. doi: 10.1007/s12070-023-03853-8. Epub 2023 May 17. Indian J Otolaryngol Head Neck Surg. 2023. PMID: 37974797
94 results