KMT2Dp.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

(2015) Sali M K Farhan et al.   JOURNAL OF MEDICAL GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?

(2014) Nisha Patel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Linkage analysis and exome sequencing identify a novel mutation inKCTD7in patients with progressive myoclonus epilepsy with ataxia

(2014) Sali M. K. Farhan et al.   EPILEPSIA

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

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

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

(2014) Yi-Hsing Chen et al.   BMC Ophthalmology

MLL2 and KDM6A mutations in patients with Kabuki syndrome

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

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

(2013) P Makrythanasis et al.   CLINICAL GENETICS

WRAD: enabler of the SET1-family of H3K4 methyltransferases

(2012) P. Ernst et al.   Briefings in Functional Genomics

Unmasking Kabuki syndrome

(2012) N Bögershausen et al.   CLINICAL GENETICS

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Predictive Factors for Success After Transnasal Endoscopic Treatment of Choanal Atresia

(2008) Natacha Teissier et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY