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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis., Pehlivan, Davut, Akdemir Zeynep Coban, Karaca Ender, Bayram Yavuz, Jhangiani Shalini, Yildiz Edibe Pembegul, Muzny Donna, Uluc Kayihan, Gibbs Richard A., Elcioglu Nursel, et al. , Human genetics, 2015 Apr 17, (2015) Abstract
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy, Lupski, James R., Gonzaga-Jauregui Claudia, Yang Yaping, Bainbridge Matthew N., Jhangiani Shalini, Buhay Christian J., Kovar Christie L., Wang Min, Hawes Alicia C., Reid Jeffrey G., et al. , Genome Medicine, 2013, Volume 5, Issue 6, p.57, (2013)
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy., Klassen, Tara, Davis Caleb F., Goldman Alica, Burgess Dan, Chen Tim, Wheeler David, McPherson John, Bourquin Traci, Lewis Lora, Villasana Donna, et al. , Cell, 2011 Jun 24, Volume 145, Issue 7, p.1036-48, (2011) Abstract
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1., Agrawal, Nishant, Frederick Mitchell J., Pickering Curtis R., Bettegowda Chetan, Chang Kyle, Li Ryan J., Fakhry Carole, Xie Tong-Xin, Zhang Jiexin, Wang Jing, et al. , Science (New York, N.Y.), 2011 Aug 26, Volume 333, Issue 6046, p.1154-7, (2011) Abstract
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology., Craigen, William J., Graham Brett H., Wong Lee-Jun, Scaglia Fernando, Lewis Richard Alan, and Bonnen Penelope E. , BMC medical genetics, 2013, Volume 14, p.83, (2013) Abstract
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI., Bayram, Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M., Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N., Gibbs Richard A., et al. , American journal of medical genetics. Part A, 2015 Apr 6, (2015) Abstract
Exome capture sequencing identifies a novel mutation in BBS4., Wang, Hui, Chen Xianfeng, Dudinsky Lynn, Patenia Claire, Chen Yiyun, Li Yumei, Wei Yue, Abboud Emad B., Al-Rajhi Ali A., Lewis Richard Alan, et al. , Molecular vision, 2011, Volume 17, p.3529-40, (2011) Abstract
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling., Chaki, Moumita, Airik Rannar, Ghosh Amiya K., Giles Rachel H., Chen Rui, Slaats Gisela G., Wang Hui, Hurd Toby W., Zhou Weibin, Cluckey Andrew, et al. , Cell, 2012 Aug 3, Volume 150, Issue 3, p.533-48, (2012) Abstract
Evolving methods for the assembly of large genomes., Gibbs, R. A., and Weinstock G. M. , Cold Spring Harbor symposia on quantitative biology, 2003, Volume 68, p.189-94, (2003)
Evolutionary traces of functional surfaces along G protein signaling pathway., Lichtarge, Olivier, Sowa Mathew E., and Philippi Anne , Methods in enzymology, 2002, Volume 344, p.536-56, (2002)
Evolutionary genetics and implications of small size and twinning in callitrichine primates., Harris, Alan R., Tardif Suzette D., Vinar Tomas, Wildman Derek E., Rutherford Julienne N., Rogers Jeffrey, Worley Kim C., and Aagaard Kjersti M. , Proceedings of the National Academy of Sciences of the United States of America, 2014 Jan 28, Volume 111, Issue 4, p.1467-72, (2014) Abstract
Evolutionary and biomedical insights from the rhesus macaque genome., Gibbs, Richard A., Rogers Jeffrey, Katze Michael G., Bumgarner Roger, Weinstock George M., Mardis Elaine R., Remington Karin A., Strausberg Robert L., Venter Craig J., Wilson Richard K., et al. , Science (New York, N.Y.), 2007 Apr 13, Volume 316, Issue 5822, p.222-34, (2007) Abstract
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes., Siepel, Adam, Bejerano Gill, Pedersen Jakob S., Hinrichs Angie S., Hou Minmei, Rosenbloom Kate, Clawson Hiram, Spieth John, Hillier Ladeana W., Richards Stephen, et al. , Genome research, 2005 Aug, Volume 15, Issue 8, p.1034-50, (2005) Abstract
Evolution tunes the excitability of individual neurons., Salkoff, L., Butler A., Fawcett G., Kunkel M., McArdle C., Paz-y-Mino G., Nonet M., Walton N., Wang Z. W., Yuan A., et al. , Neuroscience, 2001, Volume 103, Issue 4, p.853-9, (2001) Abstract
Evolution of pleiotropy: epistatic interaction pattern supports a mechanistic model underlying variation in genotype-phenotype map., Pavlicev, Mihaela, Norgard Elizabeth A., Fawcett Gloria L., and Cheverud James M. , Journal of experimental zoology. Part B, Molecular and developmental evolution, 2011 Jul 15, Volume 316, Issue 5, p.371-85, (2011) Abstract
Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts., Burger, H., Weiser B., Flaherty K., Gulla J., Nguyen P. N., and Gibbs R. A. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Dec 15, Volume 88, Issue 24, p.11236-40, (1991) Abstract
Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children., Cole, Shelley A., Butte Nancy F., Voruganti Saroja V., Cai Guowen, Haack Karin, Kent Jack W., Blangero John, Comuzzie Anthony G., McPherson John D., and Gibbs Richard A. , The American journal of clinical nutrition, 2010 Jan, Volume 91, Issue 1, p.191-9, (2010) Abstract
Evidence for Stabilizing Selection on Codon Usage in Chromosomal Rearrangements of Drosophila pseudoobscura., Fuller, Zachary L., Haynes Gwilym D., Zhu Dianhui, Batterton Matthew, Chao Hsu, Dugan Shannon, Javaid Mehwish, Jayaseelan Joy C., Lee Sandra, Li Mingmei, et al. , G3 (Bethesda, Md.), 2014 Oct 17, (2014) Abstract
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome., Vatta, Matteo, Niu Zhiyv, Lupski James R., Putnam Philip, Spoonamore Katherine G., Fang Ping, Eng Christine M., and Willis Alecia S. , American journal of medical genetics. Part A, 2013 Dec, Volume 161A, Issue 12, p.3182-6, (2013) Abstract
Evidence for alternative candidate genes near RB1 involved in clonal expansion of in situ urothelial neoplasia., Kim, Mi-Sook, Jeong Joon, Majewski Tadeusz, Kram Andrzej, Yoon Dong-Sup, Zhang Ruo-Dan, Li Jun-Zhi, Ptaszynski Konrad, Kuang Tang C., Zhou Jain-Hua, et al. , Laboratory investigation; a journal of technical methods and pathology, 2006 Feb, Volume 86, Issue 2, p.175-90, (2006) Abstract
An evaluation of the draft human genome sequence., Katsanis, N., Worley K. C., and Lupski J. R. , Nature genetics, 2001 Sep, Volume 29, Issue 1, p.88-91, (2001) Abstract
Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension., Morrison, Alanna C., Brown Andrew, Kardia Sharon L. R., Turner Stephen T., and Boerwinkle Eric , Stroke; a journal of cerebral circulation, 2003 May, Volume 34, Issue 5, p.1170-5, (2003) Abstract
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia., Bonnen, Penelope E., Pe'er Itsik, Plenge Robert M., Salit Jackie, Lowe Jennifer K., Shapero Michael H., Lifton Richard P., Breslow Jan L., Daly Mark J., Reich David E., et al. , Nature genetics, 2006 Feb, Volume 38, Issue 2, p.214-7, (2006) Abstract


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