- Home
- Publications
- Publication Search
- Publication Details
Title
Whole-Exome Sequencing
Authors
Keywords
-
Journal
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME
Volume 95, Issue 23, Pages e185
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2013-12-05
DOI
10.2106/jbjs.l.01620
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
- (2012) Amy E. Merrill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
- (2012) Jonathan J. Rios et al. HUMAN MOLECULAR GENETICS
- The Genetic Information Nondiscrimination Act (GINA): Public Policy and Medical Practice in the Age of Personalized Medicine
- (2012) Eric A. Feldman JOURNAL OF GENERAL INTERNAL MEDICINE
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- A public resource facilitating clinical use of genomes
- (2012) Madeleine P. Ball et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Nosology and classification of genetic skeletal disorders: 2010 revision
- (2011) Matthew L. Warman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small
- (2011) Richard R Sharp GENETICS IN MEDICINE
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- Exome sequencing supports a de novo mutational paradigm for schizophrenia
- (2011) Bin Xu et al. NATURE GENETICS
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- Whole-Genome Sequencing for Optimized Patient Management
- (2011) M. N. Bainbridge et al. Science Translational Medicine
- Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia
- (2011) Evgeny A. Glazov et al. PLoS Genetics
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
- (2010) J. Rios et al. HUMAN MOLECULAR GENETICS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
- (2010) Yingrui Li et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
- (2009) Deborah Krakow et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Keeping Pace with the Times — The Genetic Information Nondiscrimination Act of 2008
- (2008) Kathy L. Hudson et al. NEW ENGLAND JOURNAL OF MEDICINE
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now