Matthew N Bainbridge

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
    Matthew N Bainbridge
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genome Biol 12:R68. 2011
  2. pmc Atlas2 Cloud: a framework for personal genome analysis in the cloud
    Uday S Evani
    The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 13:S19. 2012
  3. pmc Whole exome capture in solution with 3 Gbp of data
    Matthew N Bainbridge
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Genome Biol 11:R62. 2010
  4. pmc Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
    David R Murdock
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:2071-7. 2011
  5. pmc De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
    Fan Xia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 94:784-9. 2014
  6. doi request reprint Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    Yaping Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    N Engl J Med 369:1502-11. 2013

Collaborators

  • Richard A Gibbs
  • Min Wang
  • ERIC A BOERWINKLE
  • Tiong Yang Tan
  • Melissa B Ramocki
  • Joke Beuten
  • Fan Xia
  • Yaping Yang
  • Donna M Muzny
  • James R Lupski
  • Arthur L Beaudet
  • Sharon E Plon
  • Christine M Eng
  • Peter Pham
  • Uday S Evani
  • David R Murdock
  • Monique M Ryan
  • Samantha J Penney
  • Elaine H Zackai
  • Angela E Scheuerle
  • Joy Yaplito-Lee
  • Roopa L Nalam
  • Matthew A Deardorff
  • Jill V Hunter
  • V Reid Sutton
  • Wenmiao Zhu
  • Michael F Wangler
  • Margot Nash
  • Margaret H Harr
  • Magalie S Leduc
  • Alicia Braxton
  • Mir Reza Bekheirnia
  • Matthew Hardison
  • Alecia Willis
  • Richard Person
  • Amelia Kirby
  • Jeffrey G Reid
  • Yan Ding
  • Jennifer Scull
  • Patricia A Ward
  • Zhiyv Niu
  • Danny Challis
  • Sameer Paithankar
  • Andrew R Jackson
  • Cristian Coarfa
  • Adinarayana Jakkamsetti
  • Jin Yu
  • Fuli Yu
  • Aleksandar Milosavljevic
  • Yuan Qing Wu
  • Gary D Clark
  • Sau Wai Cheung
  • Irene Newsham

Detail Information

Publications7

  1. pmc Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
    Matthew N Bainbridge
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genome Biol 12:R68. 2011
    ..The number of variants per base pair (variant density) and our ability to interrogate regions outside of the CCDS regions is consequently less well understood...
  2. pmc Atlas2 Cloud: a framework for personal genome analysis in the cloud
    Uday S Evani
    The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 13:S19. 2012
    ..To this end, the cloud computing and Software-as-a-Service (SaaS) technologies can help address these issues...
  3. pmc Whole exome capture in solution with 3 Gbp of data
    Matthew N Bainbridge
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Genome Biol 11:R62. 2010
    ....
  4. pmc Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
    David R Murdock
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 155:2071-7. 2011
    ..Further studies to identify mutation frequency in the population are needed...
  5. pmc De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
    Fan Xia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 94:784-9. 2014
    ..Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. ..
  6. doi request reprint Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    Yaping Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    N Engl J Med 369:1502-11. 2013
    ..Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders...