Related references
Note: Only part of the references are listed.Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Loren D. M. Pena et al.
GENETICS IN MEDICINE (2018)
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Kristin McDonald Gibson et al.
GENETICS IN MEDICINE (2018)
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C. Lionel et al.
GENETICS IN MEDICINE (2018)
Clinical sequencing: From raw data to diagnosis with lifetime value
S. M. Caspar et al.
CLINICAL GENETICS (2018)
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Aaron M. Wenger et al.
GENETICS IN MEDICINE (2017)
The importance of dynamic re-analysis in diagnostic whole exome sequencing
Anna C. Need et al.
JOURNAL OF MEDICAL GENETICS (2017)
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
Erica D. Smith et al.
HUMAN MUTATION (2017)
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome
Polina Stepensky et al.
JOURNAL OF MEDICAL GENETICS (2017)
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery et al.
GENOME MEDICINE (2017)
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Kelly Schoch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
Danique R. M. Vlaskamp et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
Ayal B. Gussow et al.
GENOME BIOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Nara Sobreira et al.
HUMAN MUTATION (2015)
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Anthony A. Philippakis et al.
HUMAN MUTATION (2015)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor et al.
NATURE GENETICS (2015)
A survey of tools for variant analysis of next-generation genome sequencing data
Stephan Pabinger et al.
BRIEFINGS IN BIOINFORMATICS (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
Sequencing depth and coverage: key considerations in genomic analyses
David Sims et al.
NATURE REVIEWS GENETICS (2014)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Clinical application of exome sequencing in undiagnosed genetic conditions
Anna C. Need et al.
JOURNAL OF MEDICAL GENETICS (2012)
Unlocking Mendelian disease using exome sequencing
Christian Gilissen et al.
GENOME BIOLOGY (2011)
Distribution and intensity of constraint in mammalian genomic sequence
GM Cooper et al.
GENOME RESEARCH (2005)