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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Yaping ; Muzny, Donna M ; Xia, Fan ; Niu, Zhiyv ; Person, Richard ; Ding, Yan ; Ward, Patricia ; Braxton, Alicia ; Wang, Min ; Buhay, Christian ; Veeraraghavan, Narayanan ; Hawes, Alicia ; Chiang, Theodore ; Leduc, Magalie ; Beuten, Joke ; Zhang, Jing ; He, Weimin ; Scull, Jennifer ; Willis, Alecia ; Landsverk, Megan ; Craigen, William J ; Bekheirnia, Mir Reza ; Stray-Pedersen, Asbjorg ; Liu, Pengfei ; Wen, Shu ; Alcaraz, Wendy ; Cui, Hong ; Walkiewicz, Magdalena ; Reid, Jeffrey ; Bainbridge, Matthew ; Patel, Ankita ; Boerwinkle, Eric ; Beaudet, Arthur L ; Lupski, James R ; Plon, Sharon E ; Gibbs, Richard A ; Eng, Christine M

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1870-1879 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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2
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Lupski, James R ; Gonzaga-Jauregui, Claudia ; Yang, Yaping ; Bainbridge, Matthew N ; Jhangiani, Shalini ; Buhay, Christian J ; Kovar, Christie L ; Wang, Min ; Hawes, Alicia C ; Reid, Jeffrey G ; Eng, Christine ; Muzny, Donna M ; Gibbs, Richard A

Genome medicine, 2013-06, Vol.5 (6), p.57-57, Article 57 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Wang, Min ; Beck, Christine R ; English, Adam C ; Meng, Qingchang ; Buhay, Christian ; Han, Yi ; Doddapaneni, Harsha V ; Yu, Fuli ; Boerwinkle, Eric ; Lupski, James R ; Muzny, Donna M ; Gibbs, Richard A

BMC genomics, 2015-03, Vol.16 (1), p.214-214, Article 214 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
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Artigo 		Adicionar ao Meu Espaço

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Yaping ; Muzny, Donna M ; Xia, Fan ; Niu, Zhiyv ; Person, Richard ; Ding, Yan ; Ward, Patricia ; Braxton, Alicia ; Wang, Min ; Buhay, Christian ; Veeraraghavan, Narayanan ; Hawes, Alicia ; Chiang, Theodore ; Leduc, Magalie ; Beuten, Joke ; Zhang, Jing ; He, Weimin ; Scull, Jennifer ; Willis, Alecia ; Landsverk, Megan ; Craigen, William J ; Bekheirnia, Mir Reza ; Stray-Pedersen, Asbjorg ; Liu, Pengfei ; Wen, Shu ; Alcaraz, Wendy ; Cui, Hong ; Walkiewicz, Magdalena ; Reid, Jeffrey ; Bainbridge, Matthew ; Patel, Ankita ; Boerwinkle, Eric ; Beaudet, Arthur L ; Lupski, James R ; Plon, Sharon E ; Gibbs, Richard A ; Eng, Christine M

Obstetrical & gynecological survey, 2015-03, Vol.70 (3), p.164-167 [Periódico revisado por pares]

Copyright Wolters Kluwer Health, Inc. All rights reserved

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5
Pancreatic cancer genomes reveal aberrations inaxonguidance pathway genes
Pancreatic cancer genomes reveal aberrations inaxonguidance pathway genes
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Pancreatic cancer genomes reveal aberrations inaxonguidance pathway genes

Biankin, Andrew V ; Waddell, Nicola ; Kassahn, Karin S ; Gingras, Marie-Claude ; Muthuswamy, Lakshmi B ; Johns, Amber L ; Miller, David K ; Wilson, Peter J ; Patch, Ann-Marie ; Wu, Jianmin ; Capelli, Paola ; Corbo, Vincenzo ; Scardoni, Maria ; Tempero, Margaret A ; Mann, Karen M ; Perez-Mancera, Pedro A ; Chang, David K ; Adams, David J ; Largaespada, David A ; Wessels, Lodewyk F A ; Rust, Alistair G ; Stein, Lincoln D ; Musgrove, Elizabeth A ; Eshleman, James R ; Sutherland, Robert L ; Wheeler, David A ; McPherson, John D ; Gibbs, Richard A ; Grimmond, Sean M ; Song, Sarah ; Harliwong, Ivon ; Idrisoglu, Senel ; Nourse, Craig ; Nourbakhsh, Ehsan ; Manning, Suzanne ; Wani, Shivangi ; Gongora, Milena ; Pajic, Marina ; Gill, Anthony J ; Anderson, Matthew ; Holmes, Oliver ; Leonard, Conrad ; Wood, Scott ; Xu, Qinying ; Nones, Katia ; Fink, J Lynn ; Christ, Angelika ; Bruxner, Tim ; Cloonan, Nicole ; Kolle, Gabriel ; Newell, Felicity ; Pinese, Mark ; Humphris, Jeremy L ; Kaplan, Warren ; Jones, Marc D ; Humphrey, Emily S ; Chou, Angela ; Chin, Venessa T ; Chantrill, Lorraine A ; Mawson, Amanda ; Samra, Jaswinder S ; Kench, James G ; Lovell, Jessica A ; Daly, Roger J ; Merrett, Neil D ; Epari, Krishna ; Nguyen, Nam Q ; Barbour, Andrew ; Zeps, Nikolajs ; Kakkar, Nipun ; Wang, Min ; Muzny, Donna M ; Brunicardi, F Charles ; Reid, Jeffrey G ; Drummond, Jennifer ; Chang, Kyle ; Dinh, Huyen ; Buhay, Christian J ; Beck, Timothy ; Timms, Lee ; Sam, Michelle ; Begley, Kimberly ; Brown, Andrew ; Pai, Deepa ; Panchal, Ami ; Buchner, Nicholas ; De Borja, Richard ; Denroche, Robert E ; Yung, Christina K ; Serra, Stefano ; Onetto, Nicole ; Mukhopadhyay, Debabrata ; Tsao, Ming-Sound ; Shaw, Patricia A ; Petersen, Gloria M ; Gallinger, Steven ; Hruban, Ralph H ; Maitra, Anirban ; Iacobuzio-Donahue, Christine A ; Wolfgang, Christopher L

Nature (London), 2012-11, Vol.491 (7424), p.399 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Exome Sequencing: Applications From the Lab Bench to the Clinic
Exome Sequencing: Applications From the Lab Bench to the Clinic
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Exome Sequencing: Applications From the Lab Bench to the Clinic

Yang, Yaping ; Reid, Jeffrey G. ; Bainbridge, Matthew N. ; Buhay, Christian J. ; Hawes, Alicia C. ; Wang, Min ; Ding, Yan ; Eng, Christine M. ; Beaudet, Arthur L. ; Gibbs, Richard A. ; Muzny, Donna

Journal of biomolecular techniques, 2013-05, Vol.24 (Suppl), p.S21-S22 [Periódico revisado por pares]

Bethesda, MD: Association of Biomolecular Resource Facilities

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7
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma
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The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma

Davis, Caleb F ; Ricketts, Christopher J ; Wang, Min ; Yang, Lixing ; Cherniack, Andrew D ; Shen, Hui ; Buhay, Christian ; Kang, Hyojin ; Kim, Sang Cheol ; Fahey, Catherine C ; Hacker, Kathryn E ; Bhanot, Gyan ; Gordenin, Dmitry A ; Chu, Andy ; Gunaratne, Preethi H ; Biehl, Michael ; Seth, Sahil ; Kaipparettu, Benny A ; Bristow, Christopher A ; Donehower, Lawrence A ; Wallen, Eric M ; Smith, Angela B ; Tickoo, Satish K ; Tamboli, Pheroze ; Reuter, Victor ; Schmidt, Laura S ; Hsieh, James J ; Choueiri, Toni K ; Hakimi, A Ari ; Network, The Cancer Genome Atlas Research ; Creighton, Chad J ; Morgan, Margaret ; Wheeler, David A ; Gibbs, Richard A ; Signoretti, Sabina ; Robertson, A Gordon ; Henske, Elizabeth P ; Kwiatkowski, David J ; Ricketts, Christopher ; Linehan, W Marston ; Seiler, Michael ; Rathmell, W Kimryn ; Laird, Peter W ; Shuch, Brian ; Muzny, Donna ; Chao, Hsu ; Dahdouli, Mike ; Xi, Liu ; Kakkar, Nipun ; Reid, Jeffrey G ; Downs, Brittany ; Drummond, Jennifer ; Morton, Donna ; Doddapaneni, Harsha ; Lewis, Lora ; English, Adam ; Meng, Qingchang ; Kovar, Christie ; Wang, Qiaoyan ; Hale, Walker ; Hawes, Alicia ; Kalra, Divya ; Walker, Kimberly ; Murray, Bradley A ; Sougnez, Carrie ; Saksena, Gordon ; Carter, Scott L ; Schumacher, Steven E ; Tabak, Barbara ; Zack, Travis I ; Getz, Gad ; Beroukhim, Rameen ; Gabriel, Stacey B ; Meyerson, Matthew ; Ally, Adrian ; Balasundaram, Miruna ; Birol, Inanc ; Brooks, Denise

Cancer Cell, 2014-09, Vol.26 (3), p.319-330

eScholarship, University of California

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8
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
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Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

Biankin, Andrew ; Waddell, Nicola ; Kassahn, Karin ; Gingras, Marie-Claude ; Muthuswamy, Lakshmi ; Johns, Amber ; Miller, David ; Wilson, Peter ; Patch, Ann-Marie ; Wu, Jianmin ; Chang, David ; Cowley, Mark ; Gardiner, Brooke ; Song, Sarah ; Harliwong, Ivon ; Idrisoglu, Senel ; Nourse, Craig ; Nourbakhsh, Ehsan ; Manning, Suzanne ; Wani, Shivangi ; Gongora, Milena ; Pajic, Marina ; Scarlett, Christopher ; Gill, Anthony ; Pinho, Andreia ; Rooman, Ilse ; Anderson, Matthew ; Holmes, Oliver ; Leonard, Conrad ; Taylor, Darrin ; Wood, Scott ; Xu, Qinying ; Nones, Katia ; Fink, J ; Christ, Angelika ; Bruxner, Tim ; Cloonan, Nicole ; Kolle, Gabriel ; Newell, Felicity ; Pinese, Mark ; Mead, R ; Humphris, Jeremy ; Kaplan, Warren ; Jones, Marc ; Colvin, Emily ; Nagrial, Adnan ; Humphrey, Emily ; Chou, Angela ; Chin, Venessa ; Chantrill, Lorraine ; Mawson, Amanda ; Samra, Jaswinder ; Kench, James ; Lovell, Jessica ; Daly, Roger ; Merrett, Neil ; Toon, Christopher ; Epari, Krishna ; Nguyen, Nam ; Barbour, Andrew ; Zeps, Nikolajs ; Kakkar, Nipun ; Zhao, Fengmei ; Wu, Yuan ; Wang, Min ; Muzny, Donna ; Fisher, William ; Brunicardi, F ; Hodges, Sally ; Reid, Jeffrey ; Drummond, Jennifer ; Chang, Kyle ; Han, Yi ; Lewis, Lora ; Dinh, Huyen ; Buhay, Christian ; Beck, Timothy ; Timms, Lee ; Sam, Michelle ; Begley, Kimberly ; Brown, Andrew ; Pai, Deepa ; Panchal, Ami ; Buchner, Nicholas ; De Borja, Richard ; Denroche, Robert ; Yung, Christina ; Serra, Stefano ; Onetto, Nicole ; Mukhopadhyay, Debabrata ; Tsao, Ming-Sound ; Shaw, Patricia ; Petersen, Gloria ; Gallinger, Steven ; Hruban, Ralph ; Maitra, Anirban ; Iacobuzio-Donahue, Christine ; Schulick, Richard ; Wolfgang, Christopher ; Morgan, Richard

Nature, 2012-11, Vol.491 (7424)

eScholarship, University of California

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