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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.
Basic and preclinical epilepsy research Scientists' perception of clinical epileptology.
de Curtis M, Asukile M, Battaglia G, Sellin A, Cavalheiro E, Galovic M, Gelinas JN, Ikeda A, Patel M, Perucca P, Potschka H, Rocha L, Triki C, Wilmshurst JM, Gaillard W, Deleo F, Cendes F, Cross JH, Galanopoulou AS; Research & Innovation Task Force of the ILAE. de Curtis M, et al. Among authors: patel m. Epilepsia. 2024 Nov 28. doi: 10.1111/epi.18186. Online ahead of print. Epilepsia. 2024. PMID: 39607361
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Assis BDRR, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Samuel SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering K, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: patel mj. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Haploinsufficiency of lysosomal enzyme genes in Alzheimer's disease.
Benitez BA, Wallace CE, Patel M, Nykanen NP, Yuede CM, Eaton SL, Pottier C, Cetin A, Johnson M, Bevan MT, Gardiner WD, Edwards HM, Doherty BM, Harrigan RT, Kurian D, Wishart TM, Smith C, Cirrito JR, Sands MS. Benitez BA, et al. Among authors: patel m. bioRxiv [Preprint]. 2024 Nov 18:2024.11.16.623962. doi: 10.1101/2024.11.16.623962. bioRxiv. 2024. PMID: 39605615 Free PMC article. Preprint.
Multi-stage-mixing to create a core-then-shell structure improves DNA-loaded lipid nanoparticles' transfection by orders of magnitude.
Nong J, Gong X, Dang QM, Tiwari S, Patel M, Wu J, Hanna A, Park WJ, Atochina-Vasserman EN, Huang HT, Marcos-Contreras OA, Morris-Blanco KC, Miner JJ, Weissman D, Muzykantov VR, Gupta K, Issadore D, Myerson JW, Wang Z, Brenner JS. Nong J, et al. Among authors: patel m. bioRxiv [Preprint]. 2024 Nov 15:2024.11.12.623321. doi: 10.1101/2024.11.12.623321. bioRxiv. 2024. PMID: 39605450 Free PMC article. Preprint.
The impact of immune-related adverse events on survival outcomes in a racially diverse population, with a focus on non-Hispanic Black patients.
Radwan A, Jani CT, Al Omari O, Patel M, Burns L, Mackay Z, Li L, Mahdaviani K, Davidson A, Weinberg J, Everett PC, Suzuki K, Mak KS, Kulke MH, Tapan U. Radwan A, et al. Among authors: patel m. Oncologist. 2024 Nov 27:oyae279. doi: 10.1093/oncolo/oyae279. Online ahead of print. Oncologist. 2024. PMID: 39603266 Free article.
Plasma DNA Methylation-Based Biomarkers for MPNST Detection in Patients With Neurofibromatosis Type 1.
Tomczak K, Patel MS, Bhalla AD, Peterson CB, Landers SM, Callahan SC, Zhang D, Wong J, Landry JP, Lazar AJ, Livingston JA, Guadagnolo BA, Lyu HG, Lillemoe H, Roland CL, Keung EZ, Scally CP, Hunt KK, McCutcheon IE, Slopis JM, Gu J, Scheet P, Wang L, Rai K, Torres KE. Tomczak K, et al. Among authors: patel ms. Mol Carcinog. 2024 Nov 26. doi: 10.1002/mc.23825. Online ahead of print. Mol Carcinog. 2024. PMID: 39600120
Impact of Socioeconomic Deprivation on Care Quality and Surgical Outcomes for Early-Stage Non-Small Cell Lung Cancer in United States Veterans.
Tohmasi S, Eaton DB Jr, Heiden BT, Rossetti NE, Baumann AA, Thomas TS, Schoen MW, Chang SH, Seyoum N, Yan Y, Patel MR, Brandt WS, Meyers BF, Kozower BD, Puri V. Tohmasi S, et al. Among authors: patel mr. Cancers (Basel). 2024 Nov 11;16(22):3788. doi: 10.3390/cancers16223788. Cancers (Basel). 2024. PMID: 39594743 Free PMC article.
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