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Conference Paper
Whole Exome Sequencing of Polycythemia Vera Reveals Novel Recurrent Somatic and Germline Variation, Wang, Linghua, Swierczek Sabina, Piterkova Lucie, Hickman Kimberly, Wheeler David A., and Prchal Josef T. , Blood, Volume 120, Number 21, (2012)
Journal Article
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype., Bacino, Carlos A., Dhar Shweta U., Brunetti-Pierri Nicola, Lee Brendan, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Nov, Volume 158A, Issue 11, p.2917-24, (2012) Abstract
WDR62 missense mutation in a consanguineous family with primary microcephaly., Bacino, Carlos A., Arriola Luis A., Wiszniewska Joanna, and Bonnen Penelope E. , American journal of medical genetics. Part A, 2012 Mar, Volume 158A, Issue 3, p.622-5, (2012) Abstract
WebWise: guide to the Baylor College of Medicine Human Genome Sequencing Center's web site., Pruitt, K. D. , Genome research, 1998 Mar, Volume 8, Issue 3, p.170-4, (1998)
The weed paves the way., Gibbs, R. A. , Nature genetics, 1999 Jul, Volume 22, Issue 3, p.219-20, (1999)
A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels., Xing, Chao, Cohen Jonathan C., and Boerwinkle Eric , American journal of human genetics, 2010 Mar 12, Volume 86, Issue 3, p.440-6, (2010) Abstract
What everybody should know about the rat genome and its online resources., Twigger, Simon N., Pruitt Kim D., Fernández-Suárez Xosé M., Karolchik Donna, Worley Kim C., Maglott Donna R., Brown Garth, Weinstock George, Gibbs Richard A., Kent Jim, et al. , Nature genetics, 2008 May, Volume 40, Issue 5, p.523-7, (2008) Abstract
When is ancient polymorphism a potential problem for molecular phylogenetics?, Rogers, J., and Comuzzie A. G. , American journal of physical anthropology, 1995 Oct, Volume 98, Issue 2, p.216-8; discussion 224-8, (1995)
Whole exome capture in solution with 3 Gbp of data., Bainbridge, Matthew N., Wang Min, Burgess Daniel L., Kovar Christie, Rodesch Matthew J., D'Ascenzo Mark, Kitzman Jacob, Wu Yuan-Qing, Newsham Irene, Richmond Todd A., et al. , Genome biology, 2010, Volume 11, Issue 6, p.R62, (2010) Abstract
Whole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome, Xi, Lui, Ni Xiao, Koshelev Misha, Drummond Jennifer, Muzny Donna M., Zhang Xiang, and Duvic Madeleine , Blood, Volume 122, Number 21, p.2558–2558, (2013)
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia., Sheng, Xunlun, Chen Xue, Lei Bo, Chen Rui, Wang Hui, Zhang Fangxia, Rong Weining, Ha Ruoshui, Liu Yani, Zhao Feng, et al. , Journal of translational medicine, 2015, Volume 13, p.179, (2015) Abstract
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy., Collison, Frederick T., Xie Yajing Angela, Gambin Tomasz, Jhangiani Shalini, Muzny Donna, Gibbs Richard, Lupski James R., Fishman Gerald A., and Allikmets Rando , Ophthalmic genetics, 2015 Feb 17, p.1-6, (2015) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strains., Pětrošová, Helena, Zobaníková Marie, Čejková Darina, Mikalová Lenka, Pospíšilová Petra, Strouhal Michal, Chen Lei, Qin Xiang, Muzny Donna M., Weinstock George M., et al. , PLoS neglected tropical diseases, 2012, Volume 6, Issue 9, p.e1832, (2012) Abstract
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence., Cejková, Darina, Zobaníková Marie, Chen Lei, Pospíšilová Petra, Strouhal Michal, Qin Xiang, Mikalová Lenka, Norris Steven J., Muzny Donna M., Gibbs Richard A., et al. , PLoS neglected tropical diseases, 2012 Jan, Volume 6, Issue 1, p.e1471, (2012) Abstract
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis., Wang, Xia, Wang Hui, Cao Ming, Li Zhe, Chen Xianfeng, Patenia Claire, Gore Athurva, Abboud Emad B., Al-Rajhi Ali A., Lewis Richard A., et al. , Human mutation, 2011 Dec, Volume 32, Issue 12, p.1450-9, (2011) Abstract
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria., Murdock, David R., Clark Gary D., Bainbridge Matthew N., Newsham Irene, Wu Yuan-Qing, Muzny Donna M., Cheung Sau Wai, Gibbs Richard A., and Ramocki Melissa B. , American journal of medical genetics. Part A, 2011 Sep, Volume 155A, Issue 9, p.2071-7, (2011) Abstract
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia., Ramasamy, Ranjith, Bakırcıoğlu Emre M., Cengiz Cenk, Karaca Ender, Scovell Jason, Jhangiani Shalini N., Akdemir Zeynep C., Bainbridge Matthew, Yu Yao, Huff Chad, et al. , Fertility and sterility, 2015 Aug, Volume 104, Issue 2, p.286-91, (2015) Abstract
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia., Pehlivan, Davut, Karaca Ender, Aydin Hatip, Beck Christine R., Gambin Tomasz, Muzny Donna M., Bilge Geckinli B., Karaman Ali, Jhangiani Shalini N., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2014 Jan 15, (2014) Abstract
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency., Wang, Linghua, Tsutsumi Shuichi, Kawaguchi Tokuichi, Nagasaki Koichi, Tatsuno Kenji, Yamamoto Shogo, Sang Fei, Sonoda Kohtaro, Sugawara Minoru, Saiura Akio, et al. , Genome research, 2012 Feb, Volume 22, Issue 2, p.208-19, (2012) Abstract
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes., Wang, L., Swierczek S. I., Drummond J., Hickman K., Kim Sj, Walker K., Doddapaneni H., Muzny D. M., Gibbs R. A., Wheeler D. A., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.935-8, (2014)
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy., McMichael, G., Bainbridge M. N., Haan E., Corbett M., Gardner A., Thompson S., van Bon B. W. M., van Eyk C. L., Broadbent J., Reynolds C., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.176-82, (2015) Abstract
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol., Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature genetics, 2013 Aug, Volume 45, Issue 8, p.899-901, (2013) Abstract
Whole-genome sequence–based analysis of high-density lipoprotein cholesterol, Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature Genetics, 6/2013, Volume 45, Issue 8, p.899 - 901, (2013)

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