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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
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death., Boone, Philip M., Yuan Bo, Gu Shen, Ma Zhiwei, Gambin Tomasz, Gonzaga-Jauregui Claudia, Jain Mahim, Murdock Todd J., White Janson J., Jhangiani Shalini N., et al. , Molecular genetics & genomic medicine, 2016 Jan, Volume 4, Issue 1, p.77-94, (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
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
WGSA: an annotation pipeline for human genome sequencing studies., Liu, Xiaoming, White Simon, Peng Bo, Johnson Andrew D., Brody Jennifer A., Li Alexander H., Huang Zhuoyi, Carroll Andrew, Wei Peng, Gibbs Richard, et al. , Journal of medical genetics, 2015 Sep 22, (2015)
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy., Pehlivan, Davut, Beck Christine R., Okamoto Yuji, Harel Tamar, Akdemir Zeynep H. C., Jhangiani Shalini N., Withers Marjorie A., Goksungur Meryem Tuba, Carvalho Claudia M. B., Czesnik Dirk, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Sep 17, (2015) Abstract
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection., Bailey, Adam L., Lauck Michael, Mohns Mariel, Peterson Eric J., Beheler Kerry, Brunner Kevin G., Crosno Kristin, Mejia Andres, Mutschler James, Gehrke Matthew, et al. , Science translational medicine, 2015 Sep 16, Volume 7, Issue 305, p.305ra144, (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
Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject., Scollon, Sarah, Bergstrom Katie, McCullough Laurence B., McGuire Amy L., Gutierrez Stephanie, Kerstein Robin, Parsons Williams D., and Plon Sharon E. , The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics, 2015 Sep, Volume 43, Issue 3, p.529-37, (2015) Abstract
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors., McCullough, Laurence B., Slashinski Melody J., McGuire Amy L., Street Richard L., Eng Christine M., Gibbs Richard A., Parsons William D., and Plon Sharon E. , Pediatric blood & cancer, 2015 Oct 27, (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
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
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation., Gu, Shen, Posey Jennifer E., Yuan Bo, Carvalho Claudia M. B., Luk H. M., Erikson Kelly, Lo Ivan F. M., Leung Gordon K. C., Pickering Curtis R., Chung Brian H. Y., et al. , Human mutation, 2015 Nov 9, (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
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome., Yuan, Bo, Harel Tamar, Gu Shen, Liu Pengfei, Burglen Lydie, Chantot-Bastaraud Sandra, Gelowani Violet, Beck Christine R., Carvalho Claudia M. B., Cheung Sau Wai, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.691-707, (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
Acquired uniparental disomy of chromosome 9p in hematological malignancies., Wang, Linghua, Wheeler David A., and Prchal Josef T. , Experimental hematology, 2015 Nov 29, (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


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