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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Among authors: patel m. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Patel MJ, et al. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230634 Free PMC article.
Wound Modulations in Glaucoma Surgery: A Systematic Review.
Dave B, Patel M, Suresh S, Ginjupalli M, Surya A, Albdour M, Kooner KS. Dave B, et al. Among authors: patel m. Bioengineering (Basel). 2024 Apr 30;11(5):446. doi: 10.3390/bioengineering11050446. Bioengineering (Basel). 2024. PMID: 38790314 Review.
Intensity-Modulated Reirradiation Therapy With Nivolumab in Recurrent or Second Primary Head and Neck Squamous Cell Carcinoma: A Nonrandomized Controlled Trial.
Saba NF, Wong SJ, Nasti T, McCook-Veal AA, McDonald MW, Stokes WA, Anderson AM, Ekpenyong A, Rupji M, Abousaud M, Rudra S, Bates JE, Remick JS, Joshi NP, Woody NM, Awan M, Geiger JL, Shreenivas A, Samsa J, Ward MC, Schmitt NC, Patel MR, Higgins KA, Teng Y, Steuer CE, Shin DM, Liu Y, Ahmed R, Koyfman SA. Saba NF, et al. Among authors: patel mr. JAMA Oncol. 2024 May 23:e241143. doi: 10.1001/jamaoncol.2024.1143. Online ahead of print. JAMA Oncol. 2024. PMID: 38780927
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