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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA. Mochida GH, et al. Among authors: clapham kr. Am J Hum Genet. 2010 Dec 10;87(6):882-9. doi: 10.1016/j.ajhg.2010.10.026. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109224 Free PMC article.
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. Clapham KR, et al. Neurology. 2012 Jan 24;78(4):269-78. doi: 10.1212/WNL.0b013e31824365e4. Epub 2012 Jan 11. Neurology. 2012. PMID: 22238415 Free PMC article.
Characteristics of Patients With Pulmonary Arterial Hypertension in a Pulmonary Hypertension Association-Accredited Comprehensive Care Center: A Contrast in Features When Compared With US National Registry Data.
Ingram D, Alamri AK, Penn BA, Mayeux JD, Ma CL, Clapham KR, Abraham AE, Klanderud D, Sadeh B, Beck EM, Hatton ND, Ryan JJ. Ingram D, et al. Among authors: clapham kr. Cureus. 2022 Nov 21;14(11):e31764. doi: 10.7759/cureus.31764. eCollection 2022 Nov. Cureus. 2022. PMID: 36569732 Free PMC article.
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aïssi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O'Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nøst TH, Boland A, Empana JP, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg AVH, Deleuze JF, Kraft P, Rader DJ; Global Biobank Meta-Analysis Initiative; Estonian Biobank Research Team; 23andMe Research Team; Biobank Japan; CHARGE Hemostasis Working Group; Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen JB, Morange PE, Kabrhel C, Trégouët DA, Damrauer SM, Johnson AD, Smith NL. Thibord F, et al. Among authors: clapham kr. Circulation. 2022 Oct 18;146(16):1225-1242. doi: 10.1161/CIRCULATIONAHA.122.059675. Epub 2022 Sep 26. Circulation. 2022. PMID: 36154123 Free PMC article.
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