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Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Duran D, et al. Among authors: choi j. Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18. Neuron. 2019. PMID: 30578106 Free PMC article.
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Stuart BD, et al. Among authors: choi m, choi j. Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13. Nat Genet. 2015. PMID: 25848748 Free PMC article.
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP. Timberlake AT, et al. Among authors: choi j. Elife. 2016 Sep 8;5:e20125. doi: 10.7554/eLife.20125. Elife. 2016. PMID: 27606499 Free PMC article.
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition.
Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, Wong S, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Odicino F, Pecorelli S, Donzelli C, Ardighieri L, Facchetti F, Falchetti M, Silasi DA, Ratner E, Azodi M, Schwartz PE, Mane S, Angioli R, Terranova C, Quick CM, Edraki B, Bilgüvar K, Lee M, Choi M, Stiegler AL, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. Zhao S, et al. Among authors: choi m, choi j. Proc Natl Acad Sci U S A. 2016 Oct 25;113(43):12238-12243. doi: 10.1073/pnas.1614120113. Epub 2016 Oct 10. Proc Natl Acad Sci U S A. 2016. PMID: 27791010 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. Among authors: choi m, choi j. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. J Clin Invest. 2017. PMID: 28375157 Free PMC article.
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Timberlake AT, Furey CG, Choi J, Nelson-Williams C; Yale Center for Genome Analysis; Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP. Timberlake AT, et al. Among authors: choi j. Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14. Proc Natl Acad Sci U S A. 2017. PMID: 28808027 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. Among authors: choi m, choi j. J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1. J Clin Invest. 2017. PMID: 28862642 Free PMC article.
CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: choi m, choi j. Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403011 Free PMC article.
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