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Publications

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2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors., Parsons, Williams D., Roy Angshumoy, Yang Yaping, Wang Tao, Scollon Sarah, Bergstrom Katie, Kerstein Robin A., Gutierrez Stephanie, Petersen Andrea K., Bavle Abhishek, et al. , JAMA oncology, 2016 Jan 28, (2016) Abstract
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
The impact of multiple single day blood pressure readings on cardiovascular risk estimation: The Atherosclerosis Risk in Communities study., Ogunwale, Abayomi N., Morrison Alanna C., Sun Wensheng, Dodge Rhiannon C., Virani Salim S., Taylor Addison, Gottesman Rebecca F., Yang Eric, Wei Peng, McEvoy John W., et al. , European journal of preventive cardiology, 2016 Feb 11, (2016) Abstract
Association of the IGF1 gene with fasting insulin levels., Willems, Sara M., Cornes Belinda K., Brody Jennifer A., Morrison Alanna C., Lipovich Leonard, Dauriz Marco, Chen Yuning, Liu Ching-Ti, Rybin Denis V., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2016 Feb 10, (2016) Abstract
Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study., Vu, Khanh N., Ballantyne Christie M., Hoogeveen Ron C., Nambi Vijay, Volcik Kelly A., Boerwinkle Eric, and Morrison Alanna C. , PloS one, 2016, Volume 11, Issue 2, p.e0148765, (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
Novel genetic causes for cerebral visual impairment., Bosch, Daniëlle G. M., Boonstra Nienke F., de Leeuw Nicole, Pfundt Rolph, Nillesen Willy M., de Ligt Joep, Gilissen Christian, Jhangiani Shalini, Lupski James R., Cremers Frans P. M., et al. , European journal of human genetics : EJHG, 2015 Sep 9, (2015) Abstract
Altered neuronal network and rescue in a human MECP2 duplication model., Nageshappa, S., Carromeu C., Trujillo C. A., Mesci P., Espuny-Camacho I., Pasciuto E., Vanderhaeghen P., Verfaillie C. M., Raitano S., Kumar A., et al. , Molecular psychiatry, 2015 Sep 8, (2015) Abstract
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
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
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Karaca, Ender, Harel Tamar, Pehlivan Davut, Jhangiani Shalini N., Gambin Tomasz, Akdemir Zeynep Coban, Gonzaga-Jauregui Claudia, Erdin Serkan, Bayram Yavuz, Campbell Ian M., et al. , Neuron, 2015 Nov 4, Volume 88, Issue 3, p.499-513, (2015) Abstract
Comparative genomic study of arachnid immune systems indicates loss of βGRPs and the IMD pathway., Bechsgaard, Jesper, Vanthournout Bram, Funch Peter, Vestbo Stine, Gibbs Richard A., Richards Stephen, Sanggaard Kristian W., Enghild Jan J., and Bilde Trine , Journal of evolutionary biology, 2015 Nov 3, (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
Reorganization and expansion of the nidoviral family Arteriviridae., Kuhn, Jens H., Lauck Michael, Bailey Adam L., Shchetinin Alexey M., Vishnevskaya Tatyana V., Bào Yīmíng, Ng Terry Fei Fan, LeBreton Matthew, Schneider Bradley S., Gillis Amethyst, et al. , Archives of virology, 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
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (2015) Abstract
Convergent evolution of the genomes of marine mammals., Foote, Andrew D., Liu Yue, Thomas Gregg W. C., Vinař Tomáš, Alföldi Jessica, Deng Jixin, Dugan Shannon, van Elk Cornelis E., Hunter Margaret E., Joshi Vandita, et al. , Nature genetics, 2015 Mar, Volume 47, Issue 3, p.272-5, (2015) Abstract
FOXO1 is Required for Binding of PR on IRF4, Novel Transcriptional Regulator of Endometrial Stromal Decidualization., Vasquez, Yasmin M., Mazur Erik C., Li Xilong, Kommagani Ramakrishna, Jiang Lichun, Chen Rui, Lanz Rainer B., Kovanci Ertug, Gibbons William E., and DeMayo Francesco J. , Molecular endocrinology (Baltimore, Md.), 2015 Mar, Volume 29, Issue 3, p.421-33, (2015) Abstract
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities., Chong, Jessica X., Buckingham Kati J., Jhangiani Shalini N., Boehm Corinne, Sobreira Nara, Smith Joshua D., Harrell Tanya M., McMillin Margaret J., Wiszniewski Wojciech, Gambin Tomasz, et al. , American journal of human genetics, 2015 Jul 8, (2015) Abstract
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease., Yu, Bing, Li Alexander H., Muzny Donna, Veeraraghavan Narayanan, de Vries Paul S., Bis Joshua C., Musani Solomon K., Alexander Danny, Morrison Alanna C., Franco Oscar H., et al. , Circulation. Cardiovascular genetics, 2015 Jan 8, (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
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
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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