Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

(2018) Hanns Lochmüller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

(2018) Joanne Trinh et al.   JOURNAL OF HUMAN GENETICS

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

(2018) Estrella López-Martín et al.   International Journal of Environmental Research and Public Health

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

(2017) Roser Urreizti et al.   Scientific Reports

Food allergy in a child with de novo KAT6A mutation

(2017) Varpu Elenius et al.   Clinical and Translational Allergy

Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder

(2016) Francisca Millan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

(2016) Alexandra Gauthier-Vasserot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

(2015) Emma Tham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer

(2015) R. Sanz-Pamplona et al.   CLINICAL CANCER RESEARCH

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

(2014) Rachel Thompson et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

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

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Regulation of germinal center responses and B-cell memory by the chromatin modifier MOZ

(2014) Kim L. Good-Jacobson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

MOZ increases p53 acetylation and premature senescence through its complex formation with PML

(2013) S. Rokudai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Mark A DePristo 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