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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network. Cassini TA, et al. Among authors: phillips ja. Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25. Mol Genet Genomic Med. 2019. PMID: 31020813 Free PMC article.
Telomerase deficiency does not alter bleomycin-induced fibrosis in mice.
Degryse AL, Xu XC, Newman JL, Mitchell DB, Tanjore H, Polosukhin VV, Jones BR, McMahon FB, Gleaves LA, Phillips JA 3rd, Cogan JD, Blackwell TS, Lawson WE. Degryse AL, et al. Among authors: phillips ja 3rd. Exp Lung Res. 2012 Apr;38(3):124-34. doi: 10.3109/01902148.2012.658148. Exp Lung Res. 2012. PMID: 22394286 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.
Kropski JA, Reiss S, Markin C, Brown KK, Schwartz DA, Schwarz MI, Loyd JE, Phillips JA 3rd, Blackwell TS, Cogan JD. Kropski JA, et al. Among authors: phillips ja 3rd. Am J Respir Crit Care Med. 2017 Dec 1;196(11):1481-1484. doi: 10.1164/rccm.201703-0635LE. Am J Respir Crit Care Med. 2017. PMID: 28414520 Free PMC article. No abstract available.
606 results