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

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

(2019) Patrick Deelen et al.   Nature Communications

TFE3 ‐associated neurodevelopmental disorder: A distinct recognizable syndrome

(2019) Jullianne Diaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders

(2018) Micaela Lasser et al.   Frontiers in Cellular Neuroscience

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

(2018) Florian Villegas et al.   Cell Stem Cell

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

(2018) Geoffrey J. Maher et al.   GENOME RESEARCH

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

SHOC2–MRAS–PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis

(2018) Lucy C. Young et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Quantifying the contribution of recessive coding variation to developmental disorders

(2018) Hilary C. Martin et al.   SCIENCE

Heterozygous mutations affecting the protein kinase domain ofCDK13cause a syndromic form of developmental delay and intellectual disability

(2017) Mark J Hamilton et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

(2017) Christopher A Cassa et al.   NATURE GENETICS

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

Deep Genetic Connection Between Cancer and Developmental Disorders

(2016) Hongjian Qi et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

(2016) Geoffrey J. Maher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A recurrent synonymousKAT6Bmutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

(2015) Rüstem Yilmaz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Large-scale discovery of novel genetic causes of developmental disorders

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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

Improving the Measurement of Semantic Similarity between Gene Ontology Terms and Gene Products: Insights from an Edge- and IC-Based Hybrid Method

(2013) Xiaomei Wu et al.   PLoS One

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

(2008) W. A. Catterall et al.   JOURNAL OF NEUROSCIENCE