Zoekresultaten - Matthew N. Bainbridge

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  1. 1
    Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data

    Somatic mutation load of estrogen receptor-positive breast tumors predicts overall survival: an analysis of genome sequence data door Svasti Haricharan, Matthew N. Bainbridge, Paul Scheet, Powel H. Brown

    Gepubliceerd in 2014
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  2. 2
    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy

    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy door Lili Li, Matthew N. Bainbridge, Yanli Tan, James T. Willerson, Ali J. Marian

    Gepubliceerd in 2017
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  3. 3
    Comprehensive Profiling of DNA Repair Defects in Breast Cancer Identifies a Novel Class of Endocrine Therapy Resistance Drivers

    Comprehensive Profiling of DNA Repair Defects in Breast Cancer Identifies a Novel Class of Endocrine Therapy Resistance Drivers door Meenakshi Anurag, Nindo Punturi, Jeremy Hoog, Matthew N. Bainbridge, Matthew J. Ellis, Svasti Haricharan

    Gepubliceerd in 2018
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  4. 4
    FindPeaks 3.1: a tool for identifying areas of enrichment from massively parallel short-read sequencing technology

    FindPeaks 3.1: a tool for identifying areas of enrichment from massively parallel short-read sequencing technology door Anthony P. Fejes, Gordon Robertson, Mikhail Bilenky, Richard Varhol, Matthew N. Bainbridge, Steven J.M. Jones

    Gepubliceerd in 2008
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  5. 5
    Atlas2 Cloud: a framework for personal genome analysis in the cloud

    Atlas2 Cloud: a framework for personal genome analysis in the cloud door Uday S. Evani, Danny Challis, Jin Yu, Andrew R. Jackson, Sameer Paithankar, Matthew N. Bainbridge, Adinarayana Jakkamsetti, Peter Pham, Cristian Coarfa, Aleksandar Milosavljevic, Fuli Yu

    Gepubliceerd in 2012
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  6. 6
    Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

    Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities door Matthew N. Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M. Muzny, John L. Jefferies, Thomas J. Albert, Daniel L. Burgess, Richard A. Gibbs

    Gepubliceerd in 2011
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  7. 7
    <i>POT1</i> mutation spectrum in tumour types commonly diagnosed among <i>POT1</i>-associated hereditary cancer syndrome families

    <i>POT1</i> mutation spectrum in tumour types commonly diagnosed among <i>POT1</i>-associated hereditary cancer syndrome families door Erica Shen, Joanne Xiu, Giselle Y. López, Rex C. Bentley, Ali Jalali, Amy B. Heimberger, Matthew N. Bainbridge, Melissa L. Bondy, Kyle M. Walsh

    Gepubliceerd in 2020
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  8. 8
    Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

    Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder door Chun‐An Chen, Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo, Matthew N. Bainbridge, Richard A. Gibbs, Huda Y. Zoghbi, Christian P. Schaaf

    Gepubliceerd in 2020
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  9. 9
    Profiling the HeLa S3 Transcriptome using Randomly Primed cDNA and Massively Parallel Short-Read Sequencing

    Profiling the HeLa S3 Transcriptome using Randomly Primed cDNA and Massively Parallel Short-Read Sequencing door Ryan D. Morin, Matthew N. Bainbridge, Anthony P. Fejes, Martin Hirst, Martin Krzywinski, Trevor J. Pugh, Helen McDonald, Richard Varhol, Steven J.M. Jones, Marco A. Marra

    Gepubliceerd in 2008
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  10. 10
    <i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

    <i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant door Sarah U. Morton, Sanjay P. Prabhu, Hart G.W. Lidov, Jiahai Shi, Irina Anselm, Catherine A. Brownstein, Matthew N. Bainbridge, Alan H. Beggs, Sara O. Vargas, Pankaj B. Agrawal

    Gepubliceerd in 2017
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  11. 11
    A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

    A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics door Regis A. James, Ian M. Campbell, Edward S. Chen, Philip M. Boone, Mitchell Rao, Matthew N. Bainbridge, James R. Lupski, Yaping Yang, Christine M. Eng, Jennifer E. Posey, Chad A. Shaw

    Gepubliceerd in 2016
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  12. 12
    Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle

    Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle door Matthew N. Bainbridge, Erin Cooney, Marcus J. Miller, Adam D. Kennedy, Jacob Wulff, Taraka Donti, Shalini N. Jhangiani, Richard A. Gibbs, Sarah H. Elsea, Brenda E. Porter, Brett H. Graham

    Gepubliceerd in 2017
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  13. 13
    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate door Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte A. Hobbs, Matthew N. Bainbridge

    Gepubliceerd in 2022
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  14. 14
    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia door Ranjith Ramasamy, Emre Bakırcıoğlu, Cenk Cengiz, Ender Karaca, Jason M. Scovell, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Yao Yu, Chad Huff, Richard A. Gibbs, James R. Lupski, Dolores J. Lamb

    Gepubliceerd in 2015
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  15. 15
    Loss of Function Mutations in <i>NNT</i> Are Associated With Left Ventricular Noncompaction

    Loss of Function Mutations in <i>NNT</i> Are Associated With Left Ventricular Noncompaction door Matthew N. Bainbridge, Erica E. Davis, Wen-Yee Choi, Amy L. Dickson, Hugo R. Martinez, Min Wang, Huyen Dinh, Donna M. Muzny, Ricardo Pignatelli, Nicholas Katsanis, Eric Boerwinkle, Richard A. Gibbs, John L. Jefferies

    Gepubliceerd in 2015
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  16. 16
    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 door James R. Lupski, Claudia Gonzaga‐Jauregui, Yaping Yang, Matthew N. Bainbridge, Shalini N. Jhangiani, Christian Buhay, Christie Kovar, Min Wang, Alicia Hawes, Jeffrey G. Reid, Christine M. Eng, Donna M. Muzny, Richard A. Gibbs

    Gepubliceerd in 2013
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  17. 17
    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning door Bennet Peterson, Edgar J. Hernández, Charlotte A. Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin F. Juarez, Samuel Zoucha, Erica Sanford Kobayashi, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

    Gepubliceerd in 2023
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  18. 18
    De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

    De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome door Matthew N. Bainbridge, Hao Hu, Donna M. Muzny, Luciana Musante, James R. Lupski, Brett H. Graham, Wei Chen, Karen W. Gripp, Kim Jenny, Thomas F. Wienker, Yaping Yang, V. Reid Sutton, Richard A. Gibbs, Hans‐Hilger Ropers

    Gepubliceerd in 2013
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  19. 19
    Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

    Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline door Jeffrey G. Reid, Andrew Carroll, Narayanan Veeraraghavan, Mahmoud Dahdouli, Andreas Sundquist, Adam C. English, Matthew N. Bainbridge, Simon White, William Salerno, Christian Buhay, Fuli Yu, Donna M. Muzny, Richard Daly, Geoff M. Duyk, Richard A. Gibbs, Eric Boerwinkle

    Gepubliceerd in 2014
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  20. 20
    Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach

    Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach door Matthew N. Bainbridge, Robin M. Warren, Martin Hirst, Tammy L Romanuik, Thomas Zeng, Anne Go, Allen Delaney, Malachi Griffith, Matthew T. Hickenbotham, Vincent Magrini, Elaine R. Mardis, Marianne D. Sadar, Asim Siddiqui, Marco A. Marra, Steven J.M. Jones

    Gepubliceerd in 2006
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