Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Embryonic Fate Map of First Pharyngeal Arch Structures in the sox10

(2012) Max Dougherty et al.   JOURNAL OF CRANIOFACIAL SURGERY

The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming

(2012) Abed AlFatah Mansour et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development

(2012) Karl B. Shpargel et al.   PLoS Genetics

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski 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

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

(2011) Jurate Kasnauskiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

UTX, a Histone H3-Lysine 27 Demethylase, Acts as a Critical Switch to Activate the Cardiac Developmental Program

(2011) Seunghee Lee et al.   DEVELOPMENTAL CELL

Diverse ways to be specific: a novel Zn-binding domain confers substrate specificity to UTX/KDM6A histone H3 Lys 27 demethylase

(2011) E. Kim et al.   GENES & DEVELOPMENT

Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A

(2011) T. Sengoku et al.   GENES & DEVELOPMENT

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

(2011) Lucia Micale et al.   Orphanet Journal of Rare Diseases

UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis

(2010) Shayesta Seenundun et al.   EMBO JOURNAL

The histone demethylase UTX enables RB-dependent cell fate control

(2010) J. K. Wang et al.   GENES & DEVELOPMENT

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

The H3K27me3 Demethylase dUTX Is a Suppressor of Notch- and Rb-Dependent Tumors in Drosophila

(2010) H. M. Herz et al.   MOLECULAR AND CELLULAR BIOLOGY

Jmjd3 and UTX Play a Demethylase-Independent Role in Chromatin Remodeling to Regulate T-Box Family Member-Dependent Gene Expression

(2010) Sara A. Miller et al.   MOLECULAR CELL

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

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

Genome-wide association study of bipolar disorder in European American and African American individuals

(2009) E N Smith et al.   MOLECULAR PSYCHIATRY

Dual role for the methyltransferase G9a in the maintenance of  -globin gene transcription in adult erythroid cells

(2009) C.-P. Chaturvedi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex-Specific Differences in Expression of Histone Demethylases Utx and Uty in Mouse Brain and Neurons

(2008) J. Xu et al.   JOURNAL OF NEUROSCIENCE

Genomewide association for schizophrenia in the CATIE study: results of stage 1

(2008) P F Sullivan et al.   MOLECULAR PSYCHIATRY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Identification of loci associated with schizophrenia by genome-wide association and follow-up

(2008) Michael C O'Donovan et al.   NATURE GENETICS

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

(2008) Manuel A R Ferreira et al.   NATURE GENETICS

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols