Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

De novo exonic deletion ofKDM6Ain a Chinese girl with Kabuki syndrome: A case report and brief literature review

(2016) Pu Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

(2015) Shuang Liu et al.   BMC Medical Genetics

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

An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome

(2014) Judith M.A. Verhagen et al.   European Journal of Medical Genetics

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH