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Publications

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2015
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
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
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
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
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
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
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
The sheep genome illuminates biology of the rumen and lipid metabolism., Jiang, Yu, Xie Min, Chen Wenbin, Talbot Richard, Maddox Jillian F., Faraut Thomas, Wu Chunhua, Muzny Donna M., Li Yuxiang, Zhang Wenguang, et al. , Science (New York, N.Y.), 2014 Jun 6, Volume 344, Issue 6188, p.1168-73, (2014) Abstract
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) Abstract
A homozygous missense mutation in NEUROD1 is associated with non-syndromic autosomal recessive retinitis pigmentosa., Wang, Feng, Li Huajin, Xu Mingchu, Li Hui, Zhao Li, Yang Lizhu, Zaneveld Jacques E., Wang Keqing, Li Yumei, Sui Ruifang, et al. , Investigative ophthalmology & visual science, 2014 Dec 4, (2014) Abstract
Effects of TP53 mutational status on gene expression patterns across 10 human cancer types., Parikh, Neha, Hilsenbeck Susan, Creighton Chad J., Dayaram Tajhal, Shuck Ryan, Shinbrot Eve, Xi Liu, Gibbs Richard A., Wheeler David A., and Donehower Lawrence A. , The Journal of pathology, 2014 Apr, Volume 232, Issue 5, p.522-33, (2014) Abstract
Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms., Yang, Jack Y., Dunker A., Liu Jun S., Qin Xiang, Arabnia Hamid R., Yang William, Niemierko Andrzej, Chen Zhongxue, Luo Zuojie, Wang Liangjiang, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.I1, (2014) Abstract
Identification of genes and pathways involved in kidney renal clear cell carcinoma., Yang, William, Yoshigoe Kenji, Qin Xiang, Liu Jun S., Yang Jack Y., Niemierko Andrzej, Deng Youping, Liu Yunlong, Dunker A., Chen Zhongxue, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.S2, (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, 11/2014, Volume 312, Issue 18, p.1870, (2014)
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
2013
The Cancer Genome Atlas Pan-Cancer analysis project., Chang, Kyle, Creighton Chad J., Davis Caleb F., Donehower Lawrence, Drummond Jennifer, Wheeler David, Ally Adrian, Balasundaram Miruna, Birol Inanc, Butterfield Yaron S. N., et al. , Nature genetics, 2013 Sep 26, Volume 45, Issue 10, p.1113-20, (2013)
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa., Fu, Qing, Wang Feng, Wang Hui, Xu Fei, Zaneveld Jacques E., Ren Huanan, Keser Vafa, Lopez Irma, Tuan Han-Fang, Salvo Jason S., et al. , Investigative ophthalmology & visual science, 2013 Jun, Volume 54, Issue 6, p.4158-66, (2013) Abstract
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers., Pickering, Curtis R., Zhang Jiexin, Yoo Suk Young, Bengtsson Linnea, Moorthy Shhyam, Neskey David M., Zhao Mei, Ortega Alves Marcus V., Chang Kyle, Drummond Jennifer, et al. , Cancer discovery, 2013 Jul, Volume 3, Issue 7, p.770-81, (2013) Abstract


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