Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies

(2018) Yuwen Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

(2018) Gregory Costain et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

(2018) Ahmed Alfares et al.   GENETICS IN MEDICINE

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

(2018) Kurt D Christensen et al.   GENETICS IN MEDICINE

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Advances in the Genetics of Congenital Heart Disease

(2017) Gillian M. Blue et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

(2017) Hongjun Shi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

(2017) Tom S. Koemans et al.   PLoS Genetics

Ensembl 2017

(2016) Bronwen L. Aken et al.   NUCLEIC ACIDS RESEARCH

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE

(2015) Laura Southgate et al.   Circulation-Cardiovascular Genetics

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

(2015) Maja Sukalo et al.   HUMAN MUTATION

Mutations in DCHS1 cause mitral valve prolapse

(2015) Ronen Durst et al.   NATURE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac AnomaliesCLINICAL PERSPECTIVE

(2015) Laura Southgate et al.   Circulation-Cardiovascular Genetics

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

(2015) Susanne Roosing et al.   eLife

Lifetime Prevalence of Congenital Heart Disease in the General Population From 2000 to 2010

(2014) Ariane J. Marelli et al.   CIRCULATION

Disruption of theSEMA3DGene in a Patient with Congenital Heart Defects

(2014) Marta Sanchez-Castro et al.   HUMAN MUTATION

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

(2014) Gillian M. Blue et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections

(2013) Karl Degenhardt et al.   NATURE MEDICINE

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

(2012) H. Li   BIOINFORMATICS

The phenotype of recurrent 10q22q23 deletions and duplications

(2011) Bregje W M van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

(2009) Vinciane Wouters et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD

(2008) Paweł Stańczak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS