Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

(2021) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

(2021) Eugene J. Gardner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

(2021) et al.   NEW ENGLAND JOURNAL OF MEDICINE

When genetic burden reaches threshold

(2020) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution

(2020) Emilie Lalonde et al.   Frontiers in Pediatrics

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

Risk of early neurodevelopmental disorders associated with in utero exposure to valproate and other antiepileptic drugs: a nationwide cohort study in France

(2020) Joël Coste et al.   Scientific Reports

Association of maternal diabetes with neurodevelopmental disorders: autism spectrum disorders, attention-deficit/hyperactivity disorder and intellectual disability

(2020) Shuyun Chen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

(2019) Anja Thormann et al.   Nature Communications

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

(2019) C. F. Wright et al.   Nature Communications

Contribution of retrotransposition to developmental disorders

(2019) Eugene J. Gardner et al.   Nature Communications

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

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

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Pathogenicity and selective constraint on variation near splice sites

(2018) Jenny Lord et al.   GENOME RESEARCH

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

(2018) David R. Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Quantifying the contribution of recessive coding variation to developmental disorders

(2018) Hilary C. Martin et al.   SCIENCE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

(2015) Anna Middleton et al.   EUROPEAN JOURNAL OF HUMAN 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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

(2015) Nadia Akawi et al.   NATURE GENETICS

Principle of proportionality in genomic data sharing

(2015) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Empirical research on the ethics of genomic research

(2013) Anna Middleton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

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

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Preterm birth–associated neurodevelopmental impairment estimates at regional and global levels for 2010

(2013) Hannah Blencowe et al.   PEDIATRIC RESEARCH

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS