Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Prenatal and perinatal history in Kabuki Syndrome

(2019) Chen E. Rosenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

(2018) Christopher E. Gibson et al.   Hormone Research in Paediatrics

Dissecting KMT2D missense mutations in Kabuki syndrome patients

(2018) Dario Cocciadiferro et al.   HUMAN MOLECULAR GENETICS

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

(2018) Víctor Faundes et al.   JOURNAL OF HUMAN GENETICS

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

(2017) Erfan Aref-Eshghi et al.   Epigenetics

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

(2017) Nara Sobreira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome

(2017) Karl B. Shpargel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Typical facial gestalt in X-linked Kabuki syndrome

(2016) Henri Margot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

(2016) J. Paděrová et al.   CLINICAL GENETICS

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

(2016) Andrew W. Lindsley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Kabuki syndrome

(2015) Terri P. McVeigh et al.   CLINICAL DYSMORPHOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

(2014) Maria Lisa Dentici et al.   ARCHIVES OF DISEASE IN CHILDHOOD

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Human UTY(KDM6C) Is a Male-specificNϵ-Methyl Lysyl Demethylase

(2014) Louise J. Walport et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Finger creases lend a hand in Kabuki syndrome

(2013) Caroline Michot et al.   European Journal of Medical Genetics

Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

(2013) Jean-Benoît Courcet et al.   JOURNAL OF PEDIATRICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome

(2012) Manuela Priolo et al.   MOLECULAR GENETICS AND METABOLISM

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

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Dental Evaluation of Kabuki Syndrome Patients

(2009) Camila Santos Teixeira et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL