Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

(2013) P Makrythanasis et al.   CLINICAL GENETICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Kabuki syndrome revisited

(2012) Yemisi Bokinni   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

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

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

Exome sequencing: the expert view

(2011) Leslie G Biesecker et al.   GENOME BIOLOGY

Regulating a master regulator

(2010) Arif Aziz et al.   Epigenetics

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome

(2009) Raveen Shahdadpuri et al.   CLINICAL DYSMORPHOLOGY

High-throughput sequencing of microdissected chromosomal regions

(2009) Anja Weise et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

(2008) Ivon Cuscó et al.   BMC Medical Genetics