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Publications

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2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway., Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
Genetic Determinants Influencing Human Serum Metabolome among African Americans., Yu, Bing, Zheng Yan, Alexander Danny, Morrison Alanna C., Coresh Josef, and Boerwinkle Eric , PLoS genetics, 2014 Mar, Volume 10, Issue 3, p.e1004212, (2014) Abstract
Untangling the influences of unmodeled evolutionary processes on phylogenetic signal in a forensically important HIV-1 transmission cluster., Doyle, Vinson P., Andersen John J., Nelson Bradley J., Metzker Michael L., and Brown Jeremy M. , Molecular phylogenetics and evolution, 2014 Feb 28, Volume 75C, p.126-137, (2014) Abstract
Regulation of Drosophila eye development by the transcription factor Sine oculis., Jusiak, Barbara, Karandikar Umesh C., Kwak Su-Jin, Wang Feng, Wang Hui, Chen Rui, and Mardon Graeme , PloS one, 2014, Volume 9, Issue 2, p.e89695, (2014) Abstract
Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication., Liu, Pengfei, Gelowani Violet, Zhang Feng, Drory Vivian E., Ben-Shachar Shay, Roney Erin, Medeiros Adam C., Moore Rebecca J., Divincenzo Christina, Burnette William B., et al. , American journal of human genetics, 2014 Mar 6, Volume 94, Issue 3, p.462-9, (2014) Abstract
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline., Reid, Jeffrey G., Carroll Andrew, Veeraraghavan Narayanan, Dahdouli Mahmoud, Sundquist Andreas, English Adam, Bainbridge Matthew, White Simon, Salerno William, Buhay Christian, et al. , BMC bioinformatics, 2014, Volume 15, p.30, (2014) Abstract
Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts., Zhou, Zhou, Yu Fuli, Buchanan Ashley, Fu Yuanyuan, Campos Marco, Wu Kenneth K., Chambless Lloyd E., Folsom Aaron R., Boerwinkle Eric, and Dong Jing-fei , PloS one, 2014, Volume 9, Issue 1, p.e84810, (2014) Abstract
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera., Wang, L., Swierczek S. I., Lanikova L., Kim Sj, Hickman K., Walker K., Wang K., Drummond J., Doddapaneni H., Reid J. G., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.938-41, (2014)
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) 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
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
Nasopharyngeal Proteobacteria are associated with viral etiology and acute wheezing in children with severe bronchiolitis., Hyde, Embriette R., Petrosino Joseph F., Piedra Pedro A., Camargo Carlos A., Espinola Janice A., and Mansbach Jonathan M. , The Journal of allergy and clinical immunology, 2014 Apr, Volume 133, Issue 4, p.1220-1222.e3, (2014)
Lactobacillus reuteri Strain Combination In Helicobacter pylori Infection: A Randomized, Double-Blind, Placebo-Controlled Study., Francavilla, Ruggiero, Polimeno Lorenzo, Demichina Antonella, Maurogiovanni Giovanni, Principi Beatrice, Scaccianoce Giuseppe, Ierardi Enzo, Russo Francesco, Riezzo Giuseppe, Di Leo Alfredo, et al. , Journal of clinical gastroenterology, 2014 May-Jun, Volume 48, Issue 5, p.407-13, (2014) Abstract
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) Abstract
Large conserved domains of low DNA methylation maintained by Dnmt3a., Jeong, Mira, Sun Deqiang, Luo Min, Huang Yun, Challen Grant A., Rodriguez Benjamin, Zhang Xiaotian, Chavez Lukas, Wang Hui, Hannah Rebecca, et al. , Nature genetics, 2014 Jan, Volume 46, Issue 1, p.17-23, (2014) Abstract
Onset of atonal expression in Drosophila retinal progenitors involves redundant and synergistic contributions of Ey/Pax6 and So binding sites within two distant enhancers., Zhou, Qingxiang, Zhang Tianyi, Jemc Jennifer C., Chen Yiyun, Chen Rui, Rebay Ilaria, and Pignoni Francesca , Developmental biology, 2014 Feb 1, Volume 386, Issue 1, p.152-64, (2014) Abstract
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Lin, Honghuang, Sinner Moritz F., Brody Jennifer A., Arking Dan E., Lunetta Kathryn L., Rienstra Michiel, Lubitz Steven A., Magnani Jared W., Sotoodehnia Nona, McKnight Barbara, et al. , Heart rhythm : the official journal of the Heart Rhythm Society, 2014 Mar, Volume 11, Issue 3, p.452-7, (2014) 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, 2014 Mar, Volume 133, Issue 3, p.331-45, (2014) Abstract
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia, Murali, Chaya, Lu James T., Jain Mahim, Liu David S., Lachman Ralph, Gibbs Richard A., Lee Brendan H., Cohn Daniel, and Campeau Philippe M. , Molecular Genetics and Metabolism Reports, 2014, Volume 1, p.213 - 219, (2014)
2013
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
Comprehensive molecular characterization of clear cell renal cell carcinoma., Davis, Caleb F. , Nature, 2013 Jul 4, Volume 499, Issue 7456, p.43-9, (2013) Abstract
2009
Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta)., Degenhardt, Jeremiah D., de Candia Paola, Chabot Adrien, Schwartz Stuart, Henderson Les, Ling Binhua, Hunter Meredith, Jiang Zhaoshi, Palermo Robert E., Katze Michael, et al. , PLoS genetics, 2009 Jan, Volume 5, Issue 1, p.e1000346, (2009) Abstract
Genetic variation in baboon craniofacial sexual dimorphism., Willmore, Katherine E., Roseman Charles C., Rogers Jeffrey, Richtsmeier Joan T., and Cheverud James M. , Evolution; international journal of organic evolution, 2009 Mar, Volume 63, Issue 3, p.799-806, (2009) Abstract
Localization of multiple pleiotropic genes for lipoprotein metabolism in baboons., Rainwater, David L., Cox Laura A., Rogers Jeffrey, VandeBerg John L., and Mahaney Michael C. , Journal of lipid research, 2009 Jul, Volume 50, Issue 7, p.1420-8, (2009) Abstract


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