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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. Slavotinek AM, et al. Among authors: ursell p. Clin Genet. 2015 Nov;88(5):468-73. doi: 10.1111/cge.12543. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25457163 Free PMC article.
Anomalous mitral arcade in twin-twin transfusion syndrome.
Losada E, Moon-Grady AJ, Strohsnitter WC, Wu D, Ursell PC. Losada E, et al. Circulation. 2010 Oct 12;122(15):1456-63. doi: 10.1161/CIRCULATIONAHA.110.941443. Epub 2010 Sep 27. Circulation. 2010. PMID: 20876435
Oligogenic inheritance of a human heart disease involving a genetic modifier.
Gifford CA, Ranade SS, Samarakoon R, Salunga HT, de Soysa TY, Huang Y, Zhou P, Elfenbein A, Wyman SK, Bui YK, Cordes Metzler KR, Ursell P, Ivey KN, Srivastava D. Gifford CA, et al. Among authors: ursell p. Science. 2019 May 31;364(6443):865-870. doi: 10.1126/science.aat5056. Epub 2019 May 30. Science. 2019. PMID: 31147515 Free PMC article.
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. Caleshu C, et al. Am J Med Genet A. 2011 Sep;155A(9):2229-35. doi: 10.1002/ajmg.a.34097. Epub 2011 Aug 5. Am J Med Genet A. 2011. PMID: 21823217 Free PMC article.
Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins.
Chen S, Ursell PC, Adatia I, Hislop AA, Giannikopoulos P, Hornberger LK. Chen S, et al. Among authors: ursell pc. Ultrasound Obstet Gynecol. 2010 Jan;35(1):113-6. doi: 10.1002/uog.7520. Ultrasound Obstet Gynecol. 2010. PMID: 20033995 Free article.
144 results