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Publications

2014
Exonuclease mutations In DNA Polymerase Epsilon reveal replication strand specific mutation patterns and human origins of replication., Shinbrot, Eve, Henninger Erin E., Weinhold Nils, Covington Kyle R., Göksenin Yasemin A., Schultz Nikolaus, Chao Hsu, Doddapaneni Harshavardhan, Muzny Donna M., Gibbs Richard A., et al. , Genome research, 2014 Sep 16, (2014) Abstract
Gibbon genome and the fast karyotype evolution of small apes., Carbone, Lucia, Harris Alan R., Gnerre Sante, Veeramah Krishna R., Lorente-Galdos Belen, Huddleston John, Meyer Thomas J., Herrero Javier, Roos Christian, Aken Bronwen, et al. , Nature, 2014 Sep 11, Volume 513, Issue 7517, p.195-201, (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
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children., Peters, Tricia L., Kumar Vijetha, Polikepahad Sumanth, Lin Frank Y., Sarabia Stephen F., Liang Yu, Wang Wei-Lien, Lazar Alexander J., Doddapaneni Harshavardhan, Chao Hsu, et al. , Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2014 Oct 31, (2014) Abstract
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics., Campbell, Ian M., Stewart Jonathan R., James Regis A., Lupski James R., Stankiewicz Paweł, Olofsson Peter, and Shaw Chad A. , American journal of human genetics, 2014 Oct 2, Volume 95, Issue 4, p.345-59, (2014) Abstract
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing., Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 2014 Oct 18, (2014) 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
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa., Wang, Feng, Wang Yandong, Zhang Bin, Zhao Li, Lyubasyuk Vera, Wang Keqing, Xu Mingchu, Li Yumei, Wu Frances, Wen Cindy, et al. , Investigative ophthalmology & visual science, 2014 Oct 14, (2014) Abstract
Characterization of HPV and host genome interactions in primary head and neck cancers., Parfenov, Michael, Pedamallu Chandra Sekhar, Gehlenborg Nils, Freeman Samuel S., Danilova Ludmila, Bristow Christopher A., Lee Semin, Hadjipanayis Angela G., Ivanova Elena V., Wilkerson Matthew D., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2014 Oct 13, (2014) Abstract
Mutational landscape of aggressive cutaneous squamous cell carcinoma., Pickering, Curtis R., Zhou Jane H., Lee Jack J., Drummond Jennifer A., Peng Andrew S., Saade Rami E., Tsai Kenneth Y., Curry Jonathan, Tetzlaff Michael T., Lai Stephen Y., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2014 Oct 10, (2014) Abstract
Large-scale identification of chemically induced mutations in Drosophila melanogaster., Haelterman, Nele A., Jiang Lichun, Li Yumei, Bayat Vafa, Sandoval Hector, Ugur Berrak, Tan Kai Li, Zhang Ke, Bei Danqing, Xiong Bo, et al. , Genome research, 2014 Oct, Volume 24, Issue 10, p.1707-18, (2014) Abstract
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 Oct, Volume 16, Issue 10, p.751-8, (2014) Abstract
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome., Lalani, Seema R., Zhang Jing, Schaaf Christian P., Brown Chester W., Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J., Bartholomew Dennis, Fong Chin-To, et al. , American journal of human genetics, 2014 Nov 6, Volume 95, Issue 5, p.579-83, (2014) Abstract
Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR)., Peng, Xinxia, Thierry-Mieg Jean, Thierry-Mieg Danielle, Nishida Andrew, Pipes Lenore, Bozinoski Marjan, Thomas Matthew J., Kelly Sara, Weiss Jeffrey M., Raveendran Muthuswamy, et al. , Nucleic acids research, 2014 Nov 11, (2014) Abstract
The First Myriapod Genome Sequence Reveals Conservative Arthropod Gene Content and Genome Organisation in the Centipede Strigamia maritima., Chipman, Ariel D., Ferrier David E. K., Brena Carlo, Qu Jiaxin, Hughes Daniel S. T., Schröder Reinhard, Torres-Oliva Montserrat, Znassi Nadia, Jiang Huaiyang, Almeida Francisca C., et al. , PLoS biology, 2014 Nov, Volume 12, Issue 11, p.e1002005, (2014) Abstract
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
Epistasis analysis for quantitative traits by functional regression model., Zhang, Futao, Boerwinkle Eric, and Xiong Momiao , Genome research, 2014 May 6, (2014) Abstract
Human Metabolome Associates With Dietary Intake Habits Among African Americans in the Atherosclerosis Risk in Communities Study., Zheng, Yan, Yu Bing, Alexander Danny, Steffen Lyn M., and Boerwinkle Eric , American journal of epidemiology, 2014 May 6, (2014) Abstract
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea., Xia, Fan, Bainbridge Matthew N., Tan Tiong Yang, Wangler Michael F., Scheuerle Angela E., Zackai Elaine H., Harr Margaret H., Sutton Reid V., Nalam Roopa L., Zhu Wenmiao, et al. , American journal of human genetics, 2014 May 1, Volume 94, Issue 5, p.784-9, (2014) Abstract
Epigenomic profiling of young and aged HSCs reveals concerted changes during aging that reinforce self-renewal., Sun, Deqiang, Luo Min, Jeong Mira, Rodriguez Benjamin, Xia Zheng, Hannah Rebecca, Wang Hui, Le Thuc, Faull Kym F., Chen Rui, et al. , Cell stem cell, 2014 May 1, Volume 14, Issue 5, p.673-88, (2014) Abstract
Comparative primate genomics: emerging patterns of genome content and dynamics., Rogers, Jeffrey, and Gibbs Richard A. , Nature reviews. Genetics, 2014 May, Volume 15, Issue 5, p.347-59, (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
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


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