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Page 1
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0553-7. Genet Med. 2019. PMID: 31114025 Free article.
Picture of the month. Primary hypothyroidism.
Liew WK, Lek N, Jamuar SS, Lim KW. Liew WK, et al. Among authors: jamuar ss. Arch Pediatr Adolesc Med. 2012 Jun 1;166(6):573-4. doi: 10.1001/archpediatrics.2011.812. Arch Pediatr Adolesc Med. 2012. PMID: 22665032 No abstract available.
From Big Data to Precision Medicine.
Hulsen T, Jamuar SS, Moody AR, Karnes JH, Varga O, Hedensted S, Spreafico R, Hafler DA, McKinney EF. Hulsen T, et al. Among authors: jamuar ss. Front Med (Lausanne). 2019 Mar 1;6:34. doi: 10.3389/fmed.2019.00034. eCollection 2019. Front Med (Lausanne). 2019. PMID: 30881956 Free PMC article. Review.
107 results