Matthew N Bainbridge

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 15:64. 2014
  2. pmc Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
    Jeffrey G Reid
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    BMC Bioinformatics 15:30. 2014
  3. 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
  4. 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
  5. 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
  6. pmc Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
    Matthew N Bainbridge
    From the Human Genome Sequencing Center M N B, M W, H D, D M, E B, R G, Department Pediatrics Cardiology, Baylor College of Medicine, Houston, TX H R M, R P, J L J Codified Genomics, LLC, Houston, TX M N B Center for Human Disease Modeling, Duke University Medical Center, Durham, NC E E D, N K and Department of Cell Biology, Duke University, Durham, NC W Y C, A D
    Circ Cardiovasc Genet 8:544-52. 2015
  7. pmc A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
    Regis A James
    Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA
    Genome Med 8:13. 2016
  8. 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
  9. 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
  10. pmc 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
  • Nicholas Katsanis
  • Tiong Yang Tan
  • ERIC A BOERWINKLE
  • Melissa B Ramocki
  • Min Wang
  • Joke Beuten
  • James R Lupski
  • Yaping Yang
  • Donna M Muzny
  • Christine M Eng
  • Fan Xia
  • Jeffrey G Reid
  • David R Murdock
  • Regis A James
  • Claudia M B Carvalho
  • Arthur L Beaudet
  • Sharon E Plon
  • Fuli Yu
  • Peter Pham
  • Uday S Evani
  • Edward S Chen
  • Jennifer E Posey
  • Mitchell A Rao
  • Chad A Shaw
  • Ian M Campbell
  • Philip M Boone
  • Adam English
  • Geoff Duyk
  • Wenmiao Zhu
  • Andrew Carroll
  • Donna Muzny
  • Luciana W Zuccherato
  • Christian Buhay
  • Michael F Wangler
  • Richard Daly
  • Nicholas J Neill
  • Elaine H Zackai
  • Samantha J Penney
  • Wan Ip
  • Jill V Hunter
  • Margot Nash
  • Alison A Bertuch
  • Monique M Ryan
  • Andreas Sundquist
  • Narayanan Veeraraghavan
  • V Reid Sutton
  • Simon White
  • Roopa L Nalam
  • William Salerno
  • Christopher L Williams
  • Shalini N Jhangiani
  • Mahmoud Dahdouli
  • Robert Paul Guillerman
  • Angela E Scheuerle
  • Matthew A Deardorff
  • Margaret H Harr
  • Joy Yaplito-Lee
  • Alicia Braxton
  • Yan Ding
  • Zhiyv Niu
  • Alecia Willis
  • Jennifer Scull
  • Magalie S Leduc
  • Mir Reza Bekheirnia
  • Matthew Hardison
  • Richard Person
  • Patricia A Ward
  • Amelia Kirby
  • Danny Challis
  • Sameer Paithankar
  • Jin Yu
  • Aleksandar Milosavljevic
  • Andrew R Jackson
  • Adinarayana Jakkamsetti
  • Cristian Coarfa
  • Sau Wai Cheung
  • Irene Newsham
  • Yuan Qing Wu
  • Gary D Clark

Detail Information

Publications11

  1. pmc Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 15:64. 2014
    ..Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed to the pathogenesis of a case lacking biallelic SBDS point mutations...
  2. pmc Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
    Jeffrey G Reid
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    BMC Bioinformatics 15:30. 2014
    ..This expanding scale creates analytical challenges: accommodating peak compute demand, coordinating secure access for multiple analysts, and sharing validated tools and results...
  3. 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...
  4. 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
    ....
  5. 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...
  6. pmc Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
    Matthew N Bainbridge
    From the Human Genome Sequencing Center M N B, M W, H D, D M, E B, R G, Department Pediatrics Cardiology, Baylor College of Medicine, Houston, TX H R M, R P, J L J Codified Genomics, LLC, Houston, TX M N B Center for Human Disease Modeling, Duke University Medical Center, Durham, NC E E D, N K and Department of Cell Biology, Duke University, Durham, NC W Y C, A D
    Circ Cardiovasc Genet 8:544-52. 2015
    ..Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy...
  7. pmc A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
    Regis A James
    Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA
    Genome Med 8:13. 2016
    ....
  8. 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...
  9. 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. ..
  10. pmc 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...