Search Results - Matthew N. Bainbridge

Refine Results
  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 by Svasti Haricharan, Matthew N. Bainbridge, Paul Scheet, Powel H. Brown

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy

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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Meenakshi Anurag, Nindo Punturi, Jeremy Hoog, Matthew N. Bainbridge, Matthew J. Ellis, Svasti Haricharan

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Anthony P. Fejes, Gordon Robertson, Mikhail Bilenky, Richard Varhol, Matthew N. Bainbridge, Steven J.M. Jones

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Atlas2 Cloud: a framework for personal genome analysis in the cloud

    Atlas2 Cloud: a framework for personal genome analysis in the cloud by 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

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Matthew N. Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M. Muzny, John L. Jefferies, Thomas J. Albert, Daniel L. Burgess, Richard A. Gibbs

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by Erica Shen, Joanne Xiu, Giselle Y. López, Rex C. Bentley, Ali Jalali, Amy B. Heimberger, Matthew N. Bainbridge, Melissa L. Bondy, Kyle M. Walsh

    Published 2020
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle

    Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle by 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

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: