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Diagnosing and Preventing Hearing Loss in the Genomic Age.
McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG. McDermott JH, et al. Among authors: demain lam. Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983. Trends Hear. 2019. PMID: 31621509 Free PMC article. Review.
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Faridi R, Rehman AU, Morell RJ, Friedman PL, Demain L, Zahra S, Khan AA, Tohlob D, Assir MZ, Beaman G, Khan SN, Newman WG, Riazuddin S, Friedman TB. Faridi R, et al. Clin Genet. 2017 Feb;91(2):328-332. doi: 10.1111/cge.12867. Epub 2016 Nov 16. Clin Genet. 2017. PMID: 27629923 Free PMC article.
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A. Zerkaoui M, et al. Among authors: demain lam. Clin Dysmorphol. 2017 Oct;26(4):200-204. doi: 10.1097/MCD.0000000000000198. Clin Dysmorphol. 2017. PMID: 28832386
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak.
McDermott JH, Stoddard D, Woolf PJ, Ellingford JM, Gokhale D, Taylor A, Demain LAM, Newman WG, Black G. McDermott JH, et al. Among authors: demain lam. J Mol Diagn. 2021 May;23(5):532-540. doi: 10.1016/j.jmoldx.2021.01.010. Epub 2021 Feb 4. J Mol Diagn. 2021. PMID: 33549858 Free PMC article.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: demain lam. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
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