4.6 Article

Molecular diagnostic experience of whole-exome sequencing in adult patients

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola et al.

GENOME RESEARCH (2015)

Article Genetics & Heredity

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

Caroline S. Bennette et al.

GENETICS IN MEDICINE (2015)

Review Medicine, Research & Experimental

Adult Genetic Risk Screening

C. Thomas Caskey et al.

ANNUAL REVIEW OF MEDICINE, VOL 65 (2014)

Article Genetics & Heredity

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Carlos E. Prada et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)

Article Genetics & Heredity

The usefulness of whole-exome sequencing in routine clinical practice

Alejandro Iglesias et al.

GENETICS IN MEDICINE (2014)

Article Medicine, General & Internal

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Medicine, General & Internal

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Biochemistry & Molecular Biology

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Koehler et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

Christina DiVincenzo et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2014)

Article Genetics & Heredity

The practice of adult genetics: A 7-year experience from a single center

Tanya N. Eble et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Genetics & Heredity

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green et al.

GENETICS IN MEDICINE (2013)

Editorial Material Medicine, General & Internal

Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but Not Exceptional

Robert C. Green et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)

Article Medicine, General & Internal

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Multidisciplinary Sciences

Personalized genomic disease risk of volunteers

Manuel L. Gonzalez-Garay et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Medicine, General & Internal

Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia A Randomized Controlled Trial

Jeffrey M. Statland et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)

Article Multidisciplinary Sciences

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden et al.

NATURE (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Biochemistry & Molecular Biology

Clan Genomics and the Complex Architecture of Human Disease

James R. Lupski et al.

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biotechnology & Applied Microbiology

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

Matthew N. Bainbridge et al.

GENOME BIOLOGY (2011)

Article Medicine, General & Internal

Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.

James R. Lupski et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Biotechnology & Applied Microbiology

Whole exome capture in solution with 3 Gbp of data

Matthew N. Bainbridge et al.

GENOME BIOLOGY (2010)

Editorial Material Clinical Neurology

Genome sequencing reveals Charcot-Marie-Tooth disease mutation

[Anonymous]

FUTURE NEUROLOGY (2010)

Article Genetics & Heredity

Carrier screening in individuals of Ashkenazi Jewish descent

Susan J Gross et al.

GENETICS IN MEDICINE (2008)

Article Multidisciplinary Sciences

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler et al.

NATURE (2008)

Article Biochemical Research Methods

Direct selection of human genomic loci by microarray hybridization

Thomas J. Albert et al.

NATURE METHODS (2007)

Review Biochemistry & Molecular Biology

The diploid genome sequence of an individual human

Samuel Levy et al.

PLOS BIOLOGY (2007)