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Items: 1 to 20 of 48

1.

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.

Vilarinho S, Erson-Omay EZ, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH.

J Hepatol. 2017 Jul;67(1):186-191. doi: 10.1016/j.jhep.2017.03.009. Epub 2017 Mar 18.

PMID:
28323122
2.

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.

Duran D, Jin SC, DeSpenza T Jr, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT.

Hum Genome Var. 2016 Dec 8;3:16042. doi: 10.1038/hgv.2016.42. eCollection 2016.

3.

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.

Elife. 2016 Sep 8;5. pii: e20125. doi: 10.7554/eLife.20125.

4.

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A.

Am J Hum Genet. 2016 Oct 6;99(4):1000. doi: 10.1016/j.ajhg.2016.09.003. No abstract available.

5.

Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma.

Rubinstein JC, Brown TC, Christison-Lagay ER, Zhang Y, Kunstman JW, Juhlin CC, Nelson-Williams C, Goh G, Quinn CE, Callender GG, Udelsman R, Lifton RP, Korah R, Carling T.

BMC Cancer. 2016 Aug 18;16:646. doi: 10.1186/s12885-016-2665-7.

6.

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A.

Am J Hum Genet. 2016 Jun 2;98(6):1082-91. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12.

7.

Genes and environment in neonatal intraventricular hemorrhage.

Ment LR, Ådén U, Bauer CR, Bada HS, Carlo WA, Kaiser JR, Lin A, Cotten CM, Murray J, Page G, Hallman M, Lifton RP, Zhang H; Gene Targets for IVH Study Group and the Neonatal Research Network.

Semin Perinatol. 2015 Dec;39(8):592-603. doi: 10.1053/j.semperi.2015.09.006. Epub 2015 Oct 26. Review.

8.

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP.

Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315.

9.

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerström G, Westin G, Hellman P, Carling T, Björklund P, Lifton RP.

Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):4062-7. doi: 10.1073/pnas.1503696112. Epub 2015 Mar 18.

10.

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP.

J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16.

11.

Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

Kunstman JW, Juhlin CC, Goh G, Brown TC, Stenman A, Healy JM, Rubinstein JC, Choi M, Kiss N, Nelson-Williams C, Mane S, Rimm DL, Prasad ML, Höög A, Zedenius J, Larsson C, Korah R, Lifton RP, Carling T.

Hum Mol Genet. 2015 Apr 15;24(8):2318-29. doi: 10.1093/hmg/ddu749. Epub 2015 Jan 9.

12.

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T.

J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9.

13.

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP.

Nat Genet. 2014 Oct;46(10):1135-1139. doi: 10.1038/ng.3066. Epub 2014 Sep 14.

14.

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP.

Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Erratum in: Nat Genet. 2014 Jul;46(7):759. Kuntsman, John W [corrected to Kunstman, John W].

15.

Maternal race, demography, and health care disparities impact risk for intraventricular hemorrhage in preterm neonates.

Shankaran S, Lin A, Maller-Kesselman J, Zhang H, O'Shea TM, Bada HS, Kaiser JR, Lifton RP, Bauer CR, Ment LR; Gene Targets for Intraventricular Hemorrhage Study.

J Pediatr. 2014 May;164(5):1005-1011.e3. doi: 10.1016/j.jpeds.2014.01.036. Epub 2014 Feb 28.

16.

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP.

Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.

17.

Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates.

Adén U, Lin A, Carlo W, Leviton A, Murray JC, Hallman M, Lifton RP, Zhang H, Ment LR; Gene Targets for Intraventricular Hemorrhage Study Group.

J Pediatr. 2013 Nov;163(5):1503-6.e1. doi: 10.1016/j.jpeds.2013.06.025. Epub 2013 Jul 26.

18.

Familial cortical myoclonus with a mutation in NOL3.

Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptáček LJ.

Ann Neurol. 2012 Aug;72(2):175-83. doi: 10.1002/ana.23666.

19.

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP.

Pediatr Nephrol. 2012 Nov;27(11):2081-2090. doi: 10.1007/s00467-012-2219-4. Epub 2012 Aug 21.

PMID:
22907601
20.

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

Cromer MK, Starker LF, Choi M, Udelsman R, Nelson-Williams C, Lifton RP, Carling T.

J Clin Endocrinol Metab. 2012 Sep;97(9):E1774-81. doi: 10.1210/jc.2012-1743. Epub 2012 Jun 27.

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