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Publications

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2015
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk., Yu, Bing, Pulit Sara L., Hwang Shih-Jen, Brody Jennifer A., Amin Najaf, Auer Paul L., Bis Joshua C., Boerwinkle Eric, Burke Gregory L., Chakravarti Aravinda, et al. , Circulation. Cardiovascular genetics, 2015 Dec 11, (2015) Abstract
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci., Gaulton, Kyle J., Ferreira Teresa, Lee Yeji, Raimondo Anne, Mägi Reedik, Reschen Michael E., Mahajan Anubha, Locke Adam, William Rayner N., Robertson Neil, et al. , Nature genetics, 2015 Dec, Volume 47, Issue 12, p.1415-25, (2015) Abstract
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes., Wang, Linghua, Ni Xiao, Covington Kyle R., Yang Betty Y., Shiu Jessica, Zhang Xiang, Xi Liu, Meng Qingchang, Langridge Timothy, Drummond Jennifer, et al. , Nature genetics, 2015 Dec, Volume 47, Issue 12, p.1426-34, (2015) Abstract
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci., Demerath, Ellen W., Guan Weihua, Grove Megan L., Aslibekyan Stella, Mendelson Michael, Zhou Yi-Hui, Hedman Åsa K., Sandling Johanna K., Li Li-An, Irvin Marguerite R., et al. , Human molecular genetics, 2015 Aug 1, Volume 24, Issue 15, p.4464-79, (2015) Abstract
The genomes of two key bumblebee species with primitive eusocial organization., Sadd, Ben M., Barribeau Seth M., Bloch Guy, de Graaf Dirk C., Dearden Peter, Elsik Christine G., Gadau Jürgen, Grimmelikhuijzen Cornelis J. P., Hasselmann Martin, Lozier Jeffrey D., et al. , Genome biology, 2015 Apr 24, Volume 16, Issue 1, p.76, (2015) Abstract
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis., Watkin, Levi B., Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J., Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L. P., Lee Kwanghyuk, Gambin Tomasz, et al. , Nature genetics, 2015 Apr 20, (2015) Abstract
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome., Posey, Jennifer E., Burrage Lindsay C., Campeau Philippe M., Lu James T., Eble Tanya N., Kratz Lisa, Schlesinger Alan E., Gibbs Richard A., Lee Brendan H., and Nagamani Sandesh C. S. , American journal of medical genetics. Part A, 2015 Apr 2, (2015) Abstract
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing., Alioto, Tyler S., Buchhalter Ivo, Derdak Sophia, Hutter Barbara, Eldridge Matthew D., Hovig Eivind, Heisler Lawrence E., Beck Timothy A., Simpson Jared T., Tonon Laurie, et al. , Nature communications, 2015, Volume 6, p.10001, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients., Salvo, Jason, Lyubasyuk Vera, Xu Mingchu, Wang Hui, Wang Feng, Nguyen Duy, Wang Keqing, Luo Hongrong, Wen Cindy, Shi Catherine, et al. , Investigative ophthalmology & visual science, 2015, Volume 56, Issue 3, p.1937-46, (2015) Abstract
Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney., Roy, Angshumoy, Kumar Vijetha, Zorman Barry, Fang Erica, Haines Katherine M., Doddapaneni Harshavardhan, Hampton Oliver A., White Simon, Bavle Abhishek A., Patel Nimesh R., et al. , Nature communications, 2015, Volume 6, p.8891, (2015) Abstract
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
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)
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)
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
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
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
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
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
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, 2014 Mar, Volume 10, Issue 3, p.e1004258, (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


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