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Refinado por: assunto: Mutation remover
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1
Exome sequencing identifies the cause of a mendelian disorder
Exome sequencing identifies the cause of a mendelian disorder
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Exome sequencing identifies the cause of a mendelian disorder

Huff, Chad D ; Jabs, Ethylin Wang ; Shendure, Jay ; Tabor, Holly K ; Nickerson, Deborah A ; Bamshad, Michael J ; Buckingham, Kati J ; Bigham, Abigail W ; Shannon, Paul T ; Lee, Choli ; Dent, Karin M ; Ng, Sarah B

Nature genetics, 2010-01, Vol.42 (1), p.30-35 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Singleton, Marc V. ; Guthery, Stephen L. ; Voelkerding, Karl V. ; Chen, Karin ; Kennedy, Brett ; Margraf, Rebecca L. ; Durtschi, Jacob ; Eilbeck, Karen ; Reese, Martin G. ; Jorde, Lynn B. ; Huff, Chad D. ; Yandell, Mark

American journal of human genetics, 2014-04, Vol.94 (4), p.599-610 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
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Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Roach, Jared C ; Glusman, Gustavo ; Smit, Arian F.A ; Huff, Chad D ; Hubley, Robert ; Shannon, Paul T ; Rowen, Lee ; Pant, Krishna P ; Goodman, Nathan ; Bamshad, Michael ; Shendure, Jay ; Drmanac, Radoje ; Jorde, Lynn B ; Hood, Leroy ; Galas, David J

Science (American Association for the Advancement of Science), 2010-04, Vol.328 (5978), p.636-639 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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4
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Rope, Alan F. ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J. ; Swensen, Jeffrey J. ; Johnson, W. Evan ; Moore, Barry ; Huff, Chad D. ; Bird, Lynne M. ; Carey, John C. ; Opitz, John M. ; Stevens, Cathy A. ; Jiang, Tao ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T. ; Pysher, Theodore J. ; Jorde, Lynn B. ; Hakonarson, Hakon ; Lillehaug, Johan R. ; Biesecker, Leslie G. ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J.

American journal of human genetics, 2011-07, Vol.89 (1), p.28-43 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
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Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

Vickrey, Anna I ; Bruders, Rebecca ; Kronenberg, Zev ; Mackey, Emma ; Bohlender, Ryan J ; Maclary, Emily T ; Maynez, Raquel ; Osborne, Edward J ; Johnson, Kevin P ; Huff, Chad D ; Yandell, Mark ; Shapiro, Michael D

eLife, 2018-07, Vol.7 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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6
Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate
Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate
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Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate

Yu, Yao ; Alvarado, Rolando ; Petty, Lauren E ; Bohlender, Ryan J ; Shaw, Douglas M ; Below, Jennifer E ; Bejar, Nada ; Ruiz, Oscar E ; Tandon, Bhavna ; Eisenhoffer, George T ; Kiss, Daniel L ; Huff, Chad D ; Letra, Ariadne ; Hecht, Jacqueline T

Human molecular genetics, 2022-07, Vol.31 (14), p.2348-2357 [Periódico revisado por pares]

England: Oxford University Press

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7
The somatic mutation landscape of premalignant colorectal adenoma
The somatic mutation landscape of premalignant colorectal adenoma
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The somatic mutation landscape of premalignant colorectal adenoma

Lin, Shu-Hong ; Raju, Gottumukkala S ; Huff, Chad ; Ye, Yuanqing ; Gu, Jian ; Chen, Jiun-Sheng ; Hildebrandt, Michelle A T ; Liang, Han ; Menter, David G ; Morris, Jeffery ; Hawk, Ernest ; Stroehlein, John R ; Futreal, Andrew ; Kopetz, Scott ; Mishra, Lopa ; Wu, Xifeng

Gut, 2018-07, Vol.67 (7), p.1299-1305 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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8
Hereditary retinoblastoma iPSC model reveals aberrant spliceosome function driving bone malignancies
Hereditary retinoblastoma iPSC model reveals aberrant spliceosome function driving bone malignancies
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Hereditary retinoblastoma iPSC model reveals aberrant spliceosome function driving bone malignancies

Tu, Jian ; Huo, Zijun ; Yu, Yao ; Zhu, Dandan ; Xu, An ; Huang, Mo-Fan ; Hu, Ruifeng ; Wang, Ruoyu ; Gingold, Julian A ; Chen, Yi-Hung ; Tsai, Kuang-Lei ; Forcioli-Conti, Nicolas R ; Huang, Sarah X L ; Webb, Thomas R ; Su, Jie ; Bazer, Danielle A ; Jia, Peilin ; Yustein, Jason T ; Wang, Lisa L ; Hung, Mien-Chie ; Zhao, Zhongming ; Huff, Chad D ; Shen, Jingnan ; Zhao, Ruiying ; Lee, Dung-Fang

Proceedings of the National Academy of Sciences - PNAS, 2022-04, Vol.119 (16), p.e2117857119 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation
Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation
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Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation

Xu, An ; Liu, Mo ; Huang, Mo-Fan ; Zhang, Yang ; Hu, Ruifeng ; Gingold, Julian A ; Liu, Ying ; Zhu, Dandan ; Chien, Chian-Shiu ; Wang, Wei-Chen ; Liao, Zian ; Yuan, Fei ; Hsu, Chih-Wei ; Tu, Jian ; Yu, Yao ; Rosen, Taylor ; Xiong, Feng ; Jia, Peilin ; Yang, Yi-Ping ; Bazer, Danielle A ; Chen, Ya-Wen ; Li, Wenbo ; Huff, Chad D ; Zhu, Jay-Jiguang ; Aguilo, Francesca ; Chiou, Shih-Hwa ; Boles, Nathan C ; Lai, Chien-Chen ; Hung, Mien-Chie ; Zhao, Zhongming ; Van Nostrand, Eric L ; Zhao, Ruiying ; Lee, Dung-Fang

Nature communications, 2023-03, Vol.14 (1), p.1694-1694, Article 1694 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Detecting Statistical Interaction between Somatic Mutational Events and Germline Variation from Next-Generation Sequence Data
Detecting Statistical Interaction between Somatic Mutational Events and Germline Variation from Next-Generation Sequence Data
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Detecting Statistical Interaction between Somatic Mutational Events and Germline Variation from Next-Generation Sequence Data

Huff, Chad ; Hu, Hao

Pacific Symposium on Biocomputing 2014, 2014, p.51-62 [Periódico revisado por pares]

United States

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