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Publications

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2016
Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation., Gingras, Marie-Claude, Covington Kyle R., Chang David K., Donehower Lawrence A., Gill Anthony J., Ittmann Michael M., Creighton Chad J., Johns Amber L., Shinbrot Eve, Dewal Ninad, et al. , Cell reports, 2016 Jan 19, (2016) Abstract
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations., Lalani, Seema R., Liu Pengfei, Rosenfeld Jill A., Watkin Levi B., Chiang Theodore, Leduc Magalie S., Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, et al. , American journal of human genetics, 2016 Jan 19, (2016) Abstract
POGZ truncating alleles cause syndromic intellectual disability., White, Janson, Beck Christine R., Harel Tamar, Posey Jennifer E., Jhangiani Shalini N., Tang Sha, Farwell Kelly D., Powis Zöe, Mendelsohn Nancy J., Baker Janice A., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.3, (2016) Abstract
2015
Mutations in human IFT140 cause non-syndromic retinal degeneration., Xu, Mingchu, Yang Lizhu, Wang Feng, Li Huajin, Wang Xia, Wang Weichen, Ge Zhongqi, Wang Keqing, Zhao Li, Li Hui, et al. , Human genetics, 2015 Oct, Volume 134, Issue 10, p.1069-78, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort., Wang, Hui, Wang Xia, Zou Xuan, Xu Shan, Li Hui, Soens Zachry Tore, Wang Keqing, Li Yumei, Dong Fangtian, Chen Rui, et al. , Investigative ophthalmology & visual science, 2015 Jun, Volume 56, Issue 6, p.3642-55, (2015) Abstract
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy., Collison, Frederick T., Xie Yajing Angela, Gambin Tomasz, Jhangiani Shalini, Muzny Donna, Gibbs Richard, Lupski James R., Fishman Gerald A., and Allikmets Rando , Ophthalmic genetics, 2015 Feb 17, p.1-6, (2015) Abstract
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome., Burrage, Lindsay C., Charng Wu-Lin, Eldomery Mohammad K., Willer Jason R., Davis Erica E., Lugtenberg Dorien, Zhu Wenmiao, Leduc Magalie S., Akdemir Zeynep C., Azamian Mahshid, et al. , American journal of human genetics, 2015 Dec 3, Volume 97, Issue 6, p.904-13, (2015) Abstract
Molecular diagnostic experience of whole-exome sequencing in adult patients., Posey, Jennifer E., Rosenfeld Jill A., James Regis A., Bainbridge Matthew, Niu Zhiyv, Wang Xia, Dhar Shweta, Wiszniewski Wojciech, Akdemir Zeynep H. C., Gambin Tomasz, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Dec 3, (2015) Abstract
ADIPOR1 is Mutated in Syndromic Retinitis Pigmentosa., Xu, Mingchu, Eblimit Aiden, Wang Jing, Li Jianli, Wang Feng, Zhao Li, Wang Xia, Xiao Ningna, Li Yumei, Wong Lee-Jun C., et al. , Human mutation, 2015 Dec 12, (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
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
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients., Jiang, Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, et al. , Orphanet journal of rare diseases, 2015, Volume 10, Issue 1, p.110, (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
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa., Ge, Zhongqi, Bowles Kristen, Goetz Kerry, Scholl Hendrik P. N., Wang Feng, Wang Xinjing, Xu Shan, Wang Keqing, Wang Hui, and Chen Rui , Scientific reports, 2015, Volume 5, p.18287, (2015) Abstract
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)
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
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
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
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
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 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
Epistasis analysis for quantitative traits by functional regression model., Zhang, Futao, Boerwinkle Eric, and Xiong Momiao , Genome research, 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


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