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Publications

2015
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia., Ma, Xiaotu, Edmonson Michael, Yergeau Donald, Muzny Donna M., Hampton Oliver A., Rusch Michael, Song Guangchun, Easton John, Harvey Richard C., Wheeler David A., et al. , Nature communications, 2015, Volume 6, p.6604, (2015) Abstract
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study., Bressler, Jan, Franceschini Nora, Demerath Ellen W., Mosley Thomas H., Folsom Aaron R., and Boerwinkle Eric , BMC medical genetics, 2015, Volume 16, p.52, (2015) Abstract
Structure and function of the healthy pre-adolescent pediatric gut microbiome., Hollister, Emily B., Riehle Kevin, Luna Ruth Ann, Weidler Erica M., Rubio-Gonzales Michelle, Mistretta Toni-Ann, Raza Sabeen, Doddapaneni Harsha V., Metcalf Ginger A., Muzny Donna M., et al. , Microbiome, 2015, Volume 3, p.36, (2015) Abstract
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium., Jalali, Ali, Amirian Susan E., Bainbridge Matthew N., Armstrong Georgina N., Liu Yanhong, Tsavachidis Spyros, Jhangiani Shalini N., Plon Sharon E., Lau Ching C., Claus Elizabeth B., et al. , Scientific reports, 2015, Volume 5, p.8278, (2015) Abstract
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
2014
A framework for the interpretation of de novo mutation in human disease, Samocha, Kaitlin E., Robinson Elise B., Sanders Stephan J., Stevens Christine, Sabo Aniko, McGrath Lauren M., Kosmicki Jack A., Rehnström Karola, Mallick Swapan, Kirby Andrew, et al. , Nature Genetics, 8/2014, Volume 46, Issue 9, p.944 - 950, (2014)
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes, Li, Quan, Liu Xiaoming, Gibbs Richard A., Boerwinkle Eric, Polychronakos Constantin, and Qu Hui-Qi , PLoS ONE, 8/2014, Volume 9, Issue 8, p.e104452, (2014)
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators, Bellott, Daniel W., Hughes Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Graves Tina, Rock Susie, et al. , Nature, 4/2014, Volume 508, Issue 7497, p.494 - 499, (2014)
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS Genetics, 3/2014, Volume 10, Issue 3, p.e1004258, (2014)
Transethnic meta-analysis suggests genetic variation in the HEME pathway influences potassium response in patients treated with hydrochlorothiazide., Del-Aguila, J. L., Cooper-DeHoff R. M., Chapman A. B., Gums J. G., Beitelshees A. L., Bailey K., Turner S. T., Johnson J. A., and Boerwinkle E. , The pharmacogenomics journal, 2014 Sep 9, (2014) Abstract
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis., Chakraborty, Rikhia, Hampton Oliver A., Shen Xiaoyun, Simko Stephen, Shih Albert, Abhyankar Harshal, Lim Karen Phaik Har, Covington Kyle, Trevino Lisa, Dewal Ninad, et al. , Blood, 2014 Sep 8, (2014) Abstract
Notch Activation as a Driver of Osteogenic Sarcoma., Tao, Jianning, Jiang Ming-Ming, Jiang Lichun, Salvo Jason S., Zeng Huan-Chang, Dawson Brian, Bertin Terry K., Rao Pulivarthi H., Chen Rui, Donehower Lawrence A., et al. , Cancer cell, 2014 Sep 8, Volume 26, Issue 3, p.390-401, (2014) Abstract
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma., Davis, Caleb F., Ricketts Christopher J., Wang Min, Yang Lixing, Cherniack Andrew D., Shen Hui, Buhay Christian, Kang Hyojin, Kim Sang Cheol, Fahey Catherine C., et al. , Cancer cell, 2014 Sep 8, Volume 26, Issue 3, p.319-330, (2014) Abstract
Two Novel Simian Arteriviruses in Captive and Wild Baboons (Papio spp.)., Bailey, Adam L., Lauck Michael, Sibley Samuel D., Pecotte Jerilyn, Rice Karen, Weny Geoffrey, Tumukunde Alex, Hyeroba David, Greene Justin, Correll Michael, et al. , Journal of virology, 2014 Sep 3, (2014) Abstract
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases., Yamamoto, Shinya, Jaiswal Manish, Charng Wu-Lin, Gambin Tomasz, Karaca Ender, Mirzaa Ghayda, Wiszniewski Wojciech, Sandoval Hector, Haelterman Nele A., Xiong Bo, et al. , Cell, 2014 Sep 25, Volume 159, Issue 1, p.200-14, (2014) Abstract
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


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