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Publications

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2016
Functional annotation of rare gene aberration drivers of pancreatic cancer., Tsang, Yiu Huen, Dogruluk Turgut, Tedeschi Philip M., Wardwell-Ozgo Joanna, Lu Hengyu, Espitia Maribel, Nair Nikitha, Minelli Rosalba, Chong Zechen, Chen Fengju, et al. , Nature communications, 2016, Volume 7, p.10500, (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
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
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes., Appadurai, Vivek, DeBarber Andrea, Chiang Pei-Wen, Patel Shailendra B., Steiner Robert D., Tyler Charles, and Bonnen Penelope E. , Molecular genetics and metabolism, 2015 Oct 26, (2015) Abstract
Androgen receptor promotes tamoxifen agonist activity by activation of EGFR in ERα-positive breast cancer., Ciupek, Andrew, Rechoum Yassine, Gu Guowei, Gelsomino Luca, Beyer Amanda R., Brusco Lauren, Covington Kyle R., Tsimelzon Anna, and Fuqua Suzanne A. W. , Breast cancer research and treatment, 2015 Oct 20, (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
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
Hemichordate genomes and deuterostome origins., Simakov, Oleg, Kawashima Takeshi, Marlétaz Ferdinand, Jenkins Jerry, Koyanagi Ryo, Mitros Therese, Hisata Kanako, Bredeson Jessen, Shoguchi Eiichi, Gyoja Fuki, et al. , Nature, 2015 Nov 26, Volume 527, Issue 7579, p.459-65, (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
Single-Molecule Sequencing Reveals Estrogen-Regulated Clinically Relevant lncRNAs in Breast Cancer., Jonsson, Philip, Coarfa Cristian, Mesmar Fahmi, Raz Tal, Rajapakshe Kimal, Thompson John F., Gunaratne Preethi H., and Williams Cecilia , Molecular endocrinology (Baltimore, Md.), 2015 Nov, Volume 29, Issue 11, p.1634-45, (2015) Abstract
The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism., Besse, Arnaud, Wu Ping, Bruni Francesco, Donti Taraka, Graham Brett H., Craigen William J., McFarland Robert, Moretti Paolo, Lalani Seema, Scott Kenneth L., et al. , Cell metabolism, 2015 Mar 3, Volume 21, Issue 3, p.417-27, (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
Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism., Bayram, Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B., Gambin Tomasz, Lee Ming, et al. , The Journal of clinical endocrinology and metabolism, 2015 Mar 16, p.jc20151150, (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
Genetic overlap between diagnostic subtypes of ischemic stroke., Holliday, Elizabeth G., Traylor Matthew, Malik Rainer, Bevan Steve, Falcone Guido, Hopewell Jemma C., Cheng Yu-Ching, Cotlarciuc Ioana, Bis Joshua C., Boerwinkle Eric, et al. , Stroke; a journal of cerebral circulation, 2015 Mar, Volume 46, Issue 3, p.615-9, (2015) Abstract
Genomic Signatures of Cooperation and Conflict in the Social Amoeba., Ostrowski, Elizabeth A., Shen Yufeng, Tian Xiangjun, Sucgang Richard, Jiang Huaiyang, Qu Jiaxin, Katoh-Kurasawa Mariko, Brock Debra A., Dinh Christopher, Lara-Garduno Fremiet, et al. , Current biology : CB, 2015 Jun 15, Volume 25, Issue 12, p.1661-5, (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
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing., Ritter, Deborah I., Haines Katherine, Cheung Hannah, Davis Caleb F., Lau Ching C., Berg Jonathan S., Brown Chester W., Thompson Patrick A., Gibbs Richard, Wheeler David A., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Jan 8, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, (2015) Abstract
Germline mutations in shelterin complex genes are associated with familial glioma., Bainbridge, Matthew N., Armstrong Georgina N., Gramatges Monica M., Bertuch Alison A., Jhangiani Shalini N., Doddapaneni Harsha, Lewis Lora, Tombrello Joseph, Tsavachidis Spyros, Liu Yanhong, et al. , Journal of the National Cancer Institute, 2015 Jan, Volume 107, Issue 1, p.384, (2015) Abstract


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