Skip to Content

Publications

2015
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, (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
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
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


about seo