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Fine mapping of the Schnyder's crystalline corneal dystrophy locus.
Theendakara V, Tromp G, Kuivaniemi H, White PS, Panchal S, Cox J, Winters RS, Riebeling P, Tost F, Hoeltzenbein M, Tervo TM, Henn W, Denniger E, Krause M, Koksal M, Kargi S, Ugurbas SH, Latvala T, Shearman AM, Weiss JS. Theendakara V, et al. Among authors: white ps. Hum Genet. 2004 May;114(6):594-600. doi: 10.1007/s00439-004-1110-1. Epub 2004 Mar 19. Hum Genet. 2004. PMID: 15034782
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML. Weiss JS, et al. Among authors: white ps. Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. Am J Med Genet A. 2008. PMID: 18176953
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Among authors: white ps. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN, Chen J, Shikany A, White PS, Prada CE, Gelb BD, Cnota JF; Pediatric Cardiac Genomics Consortium Investigators*. Weaver KN, et al. Among authors: white ps. Circ Genom Precis Med. 2022 Aug;15(4):e003635. doi: 10.1161/CIRCGEN.121.003635. Epub 2022 Jun 6. Circ Genom Precis Med. 2022. PMID: 35666834 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
305 results