An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

Mutations in MED12 Cause X-Linked Ohdo Syndrome

(2013) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

(2013) Katalin Szakszon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(2012) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

(2012) Michael A. Simpson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

(2012) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

(2011) Jill Clayton-Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

(2011) Stacy Zahanova et al.   CLINICAL DYSMORPHOLOGY

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

(2011) Michael Kraft et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A de novo paradigm for mental retardation

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

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

(2009) Chad R. Haldeman-Englert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

(2009) Maila Penttinen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

(2009) R Day et al.   CLINICAL GENETICS

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

Identification of copy number variants associated with BPES-like phenotypes

(2008) Antoinet C. J. Gijsbers et al.   HUMAN GENETICS

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION

Molecular Architecture of Quartet MOZ/MORF Histone Acetyltransferase Complexes

(2008) M. Ullah et al.   MOLECULAR AND CELLULAR BIOLOGY