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Publications

2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles., Boone, Philip M., Campbell Ian M., Baggett Brett C., Soens Zachry T., Rao Mitchell M., Hixson Patricia M., Patel Ankita, Bi Weimin, Cheung Sau Wai, Lalani Seema R., et al. , Genome research, 2013 Sep, Volume 23, Issue 9, p.1383-94, (2013) Abstract
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida., Agopian, A. J., Bhalla Angela D., Boerwinkle Eric, Finnell Richard H., Grove Megan L., Hixson James E., Shimmin Lawrence C., Sewda Anshuman, Stuart Colin, Zhong Yu, et al. , Birth defects research. Part A, Clinical and molecular teratology, 2013 Sep, Volume 97, Issue 9, p.597-601, (2013) Abstract
Longitudinal study shows increasing obesity and hyperglycemia in micronesia., Murdock, David, Salit Jacqueline, Stoffel Markus, Friedman Jeffrey M., Pe'er Itsik, Breslow Jan L., and Bonnen Penelope E. , Obesity (Silver Spring, Md.), 2013 Sep, Volume 21, Issue 9, p.E421-7, (2013) Abstract
APOE Modulates the Correlation Between Triglycerides, Cholesterol, and CHD Through Pleiotropy and Gene-by-Gene Interactions., Maxwell, Taylor J., Ballantyne Christie M., Cheverud James M., Guild Cameron S., Ndumele Chiadi E., and Boerwinkle Eric , Genetics, 2013 Oct 4, (2013) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2013 Oct 24, (2013) Abstract
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
The Cancer Genome Atlas Pan-Cancer analysis project., Weinstein, John N., Collisson Eric A., Mills Gordon B., Shaw Kenna Mills R., Ozenberger Brad A., Ellrott Kyle, Shmulevich Ilya, Sander Chris, and Stuart Joshua M. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1113-20, (2013) Abstract
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing., Wang, Xia, Wang Hui, Sun Vincent, Tuan Han-Fang, Keser Vafa, Wang Keqing, Ren Huanan, Lopez Irma, Zaneveld Jacques E., Siddiqui Sorath, et al. , Journal of medical genetics, 2013 Oct, Volume 50, Issue 10, p.674-88, (2013) Abstract
Detection of clinically relevant copy number variants with whole-exome sequencing., de Ligt, Joep, Boone Philip M., Pfundt Rolph, Vissers Lisenka E. L. M., Richmond Todd, Geoghegan Joel, O'Moore Kathleen, de Leeuw Nicole, Shaw Christine, Brunner Han G., et al. , Human mutation, 2013 Oct, Volume 34, Issue 10, p.1439-48, (2013) Abstract
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia., Shah, Sohela, Schrader Kasmintan A., Waanders Esmé, Timms Andrew E., Vijai Joseph, Miething Cornelius, Wechsler Jeremy, Yang Jun, Hayes James, Klein Robert J., et al. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1226-31, (2013) Abstract
Persistent human herpesvirus-6 infection in patients with an inherited form of the virus., Pantry, Shara N., Medveczky Maria M., Arbuckle Jesse H., Luka Janos, Montoya Jose G., Hu Jianhong, Renne Rolf, Peterson Daniel, Pritchett Joshua C., Ablashi Dharam V., et al. , Journal of medical virology, 2013 Nov, Volume 85, Issue 11, p.1940-6, (2013) Abstract
Replicative mechanisms for CNV formation are error prone., Carvalho, Claudia M. B., Pehlivan Davut, Ramocki Melissa B., Fang Ping, Alleva Benjamin, Franco Luis M., Belmont John W., Hastings P. J., and Lupski James R. , Nature genetics, 2013 Nov, Volume 45, Issue 11, p.1319-26, (2013) Abstract
Bacterial discrimination by dictyostelid amoebae reveals the complexity of ancient interspecies interactions., Nasser, Waleed, Santhanam Balaji, Miranda Edward Roshan, Parikh Anup, Juneja Kavina, Rot Gregor, Dinh Chris, Chen Rui, Zupan Blaz, Shaulsky Gad, et al. , Current biology : CB, 2013 May 20, Volume 23, Issue 10, p.862-72, (2013) Abstract
Integrated genomic characterization of endometrial carcinoma., Kandoth, Cyriac, Schultz Nikolaus, Cherniack Andrew D., Akbani Rehan, Liu Yuexin, Shen Hui, Robertson Gordon A., Pashtan Itai, Shen Ronglai, Benz Christopher C., et al. , Nature, 2013 May 2, Volume 497, Issue 7447, p.67-73, (2013) Abstract
An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data., Wang, Yi, Lu James, Yu Jin, Gibbs Richard A., and Yu Fuli , Genome research, 2013 May, Volume 23, Issue 5, p.833-42, (2013) Abstract
Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A., Ling, Paul D., Reid Jeffrey G., Qin Xiang, Muzny Donna M., Gibbs Richard, Petrosino Joseph, Peng Rongsheng, Zong Jian-Chao, Heaggans Sarah Y., and Hayward Gary S. , Genome announcements, 2013 Mar-Apr, Volume 1, Issue 2, p.e0010613, (2013) Abstract
Bioactivity and Bioavailability of Ginsenosides are Dependent on the Glycosidase Activities of the A/J Mouse Intestinal Microbiome Defined by Pyrosequencing., Niu, Tao, Smith Diane L., Yang Zhen, Gao Song, Yin Taijun, Jiang Zhi-Hong, You Ming, Gibbs Richard A., Petrosino Joseph F., and Hu Ming , Pharmaceutical research, 2013 Mar, Volume 30, Issue 3, p.836-46, (2013) Abstract
Characterization of transcriptomes from sexual and asexual lineages of a New Zealand snail (Potamopyrgus antipodarum)., Wilton, Peter R., Sloan Daniel B., Logsdon John M., Doddapaneni Harshavardhan, and Neiman Maurine , Molecular ecology resources, 2013 Mar, Volume 13, Issue 2, p.289-94, (2013) Abstract
Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network., Hakimi, Ari A., Ostrovnaya Irina, Reva Boris, Schultz Nikolaus, Chen Ying-Bei, Gonen Mithat, Liu Han, Takeda Shugaku, Voss Martin H., Tickoo Satish K., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2013 Jun 15, Volume 19, Issue 12, p.3259-67, (2013) Abstract
A comparative genomic analysis of the oxidative enzymes potentially involved in lignin degradation by Agaricus bisporus., Doddapaneni, Harshavardhan, Subramanian Venkataramanan, Fu Bolei, and Cullen Dan , Fungal genetics and biology : FG & B, 2013 Jun, Volume 55, p.22-31, (2013) Abstract
CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression., Rogers, J., Raveendran M., Fawcett G. L., Fox A. S., Shelton S. E., Oler J. A., Cheverud J., Muzny D. M., Gibbs R. A., Davidson R. J., et al. , Molecular psychiatry, 2013 Jun, Volume 18, Issue 6, p.700-7, (2013) Abstract
CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression., Rogers, J., Raveendran M., Fawcett G. L., Fox A. S., Shelton S. E., Oler J. A., Cheverud J., Muzny D. M., Gibbs R. A., Davidson R. J., et al. , Molecular psychiatry, 2013 Jun, Volume 18, Issue 6, p.700-7, (2013) Abstract
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa., Fu, Qing, Wang Feng, Wang Hui, Xu Fei, Zaneveld Jacques E., Ren Huanan, Keser Vafa, Lopez Irma, Tuan Han-Fang, Salvo Jason S., et al. , Investigative ophthalmology & visual science, 2013 Jun, Volume 54, Issue 6, p.4158-66, (2013) Abstract


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