Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Identification of pathogenic variant enriched regions across genes and gene families

(2019) Eduardo Pérez-Palma et al.   GENOME RESEARCH

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

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

(2015) J. Homsy et al.   SCIENCE

Gene Expression Switching of Receptor Subunits in Human Brain Development

(2015) Ossnat Bar-Shira et al.   PLoS Computational Biology

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

(2013) Roddy Walsh et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

New genes as drivers of phenotypic evolution

(2013) Sidi Chen et al.   NATURE REVIEWS GENETICS

Current status and new features of the Consensus Coding Sequence database

(2013) Catherine M. Farrell et al.   NUCLEIC ACIDS RESEARCH

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

On the Origins of Mendelian Disease Genes in Man: The Impact of Gene Duplication

(2011) J. E. Dickerson et al.   MOLECULAR BIOLOGY AND EVOLUTION

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

(2010) D. L. Goode et al.   GENOME RESEARCH

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

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

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Evolutionary constraints on structural similarity in orthologs and paralogs

(2009) Mark E. Peterson et al.   PROTEIN SCIENCE

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

(2008) A. J. Vilella et al.   GENOME RESEARCH

Exposing the fitness contribution of duplicated genes

(2008) Alexander DeLuna et al.   NATURE GENETICS