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Publications

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2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1., Soens, Zachry T., Li Yuanyuan, Zhao Li, Eblimit Aiden, Dharmat Rachayata, Li Yumei, Chen Yiyun, Naqeeb Mohammed, Fajardo Norma, Lopez Irma, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Jan 28, (2016) Abstract
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa., Xu, Mingchu, Yamada Takeyuki, Sun Zixi, Eblimit Aiden, Lopez Irma, Wang Feng, Manya Hiroshi, Xu Shan, Zhao Li, Li Yumei, et al. , Human molecular genetics, 2016 Jan 28, (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
Genomic analyses identify molecular subtypes of pancreatic cancer., Bailey, Peter, Chang David K., Nones Katia, Johns Amber L., Patch Ann-Marie, Gingras Marie-Claude, Miller David K., Christ Angelika N., Bruxner Tim J. C., Quinn Michael C., et al. , Nature, 2016 Feb 24, (2016) Abstract
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis., Gomez-Ospina, Natalia, Potter Carol J., Xiao Rui, Manickam Kandamurugu, Kim Mi-Sun, Kim Kang Ho, Shneider Benjamin L., Picarsic Jennifer L., Jacobson Theodora A., Zhang Jing, et al. , Nature communications, 2016, Volume 7, p.10713, (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
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome., Benoit, Joshua B., Adelman Zach N., Reinhardt Klaus, Dolan Amanda, Poelchau Monica, Jennings Emily C., Szuter Elise M., Hagan Richard W., Gujar Hemant, Shukla Jayendra Nath, et al. , Nature communications, 2016, Volume 7, p.10165, (2016) Abstract
2015
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF., Huffman, Jennifer E., de Vries Paul S., Morrison Alanna C., Sabater-Lleal Maria, Kacprowski Tim, Auer Paul L., Brody Jennifer A., Chasman Daniel I., Chen Ming-Huei, Guo Xiuqing, et al. , Blood, 2015 Sep 10, Volume 126, Issue 11, p.e19-29, (2015) Abstract
Avirulence Gene Mapping in the Hessian Fly (Mayetiola destructor) Reveals a Protein Phosphatase 2C Effector Gene Family., Zhao, Chaoyang, Shukle Richard, Escalante Lucio Navarro, Chen Mingshun, Richards Stephen, and Stuart Jeffrey J. , Journal of insect physiology, 2015 Oct 3, (2015) Abstract
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
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
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2., Zazo Seco, Celia, Serrão de Castro Luciana, van Nierop Josephine W., Morín Matías, Jhangiani Shalini, Verver Eva J. J., Schraders Margit, Maiwald Nadine, Wesdorp Mieke, Venselaar Hanka, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.647-60, (2015) Abstract
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome., Naves, Luciana A., Daly Adrian F., Dias Luiz Augusto, Yuan Bo, Zakir Juliano Coelho Oliveira, Barra Gustavo Barcellos, Palmeira Leonor, Villa Chiara, Trivellin Giampaolo, Júnior Armindo Jreige, et al. , Endocrine, 2015 Nov 25, (2015) Abstract
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair., Day, Felix R., Ruth Katherine S., Thompson Deborah J., Lunetta Kathryn L., Pervjakova Natalia, Chasman Daniel I., Stolk Lisette, Finucane Hilary K., Sulem Patrick, Bulik-Sullivan Brendan, et al. , Nature genetics, 2015 Nov, Volume 47, Issue 11, p.1294-303, (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
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation., Mayle, Allison, Yang Liubin, Rodriguez Benjamin, Zhou Ting, Chang Edmund, Curry Choladda V., Challen Grant A., Li Wei, Wheeler David, Rebel Vivienne I., et al. , Blood, 2015 Jan 22, Volume 125, Issue 4, p.629-38, (2015) Abstract
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI., Verhaaren, Benjamin F. J., Debette Stéphanie, Bis Joshua C., Smith Jennifer A., Ikram Kamran M., Adams Hieab H., Beecham Ashley H., Rajan Kumar B., Lopez Lorna M., Barral Sandra, et al. , Circulation. Cardiovascular genetics, 2015 Feb 7, (2015) Abstract
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction., Do, Ron, Stitziel Nathan O., Won Hong-Hee, Jørgensen Anders Berg, Duga Stefano, Angelica Merlini Pier, Kiezun Adam, Farrall Martin, Goel Anuj, Zuk Or, et al. , Nature, 2015 Feb 5, Volume 518, Issue 7537, p.102-6, (2015) Abstract
Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition., Darling, Joseph E., Zhao Feifei, Loftus Rosemary J., Patton Leslie M., Gibbs Richard A., and Hougland James L. , Biochemistry, 2015 Feb 3, Volume 54, Issue 4, p.1100-10, (2015) Abstract
TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives., Chittani, Martina, Zaninello Roberta, Lanzani Chiara, Frau Francesca, Ortu Maria F., Salvi Erika, Fresu Giovanni, Citterio Lorena, Braga Daniele, Piras Daniela A., et al. , Journal of hypertension, 2015 Feb 18, (2015) Abstract
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949)., Davies, G., Armstrong N., Bis J. C., Bressler J., Chouraki V., Giddaluru S., Hofer E., Ibrahim-Verbaas C. A., Kirin M., Lahti J., et al. , Molecular psychiatry, 2015 Feb, Volume 20, Issue 2, p.183-92, (2015) Abstract
Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families., Shetty, Priya B., Tang Hua, Feng Tao, Tayo Bamidele, Morrison Alanna C., Kardia Sharon L. R., Hanis Craig L., Arnett Donna K., Hunt Steven C., Boerwinkle Eric, et al. , Circulation. Cardiovascular genetics, 2015 Feb, Volume 8, Issue 1, p.106-13, (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


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