Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

(2019) Tomoko Uehara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

Dissecting KMT2D missense mutations in Kabuki syndrome patients

(2018) Dario Cocciadiferro et al.   HUMAN MOLECULAR GENETICS

Cancer Management in Kabuki Syndrome

(2018) Hideto Teranishi et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

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

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

(2017) Francesca Lepri et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

(2017) Yumi Enomoto et al.   CONGENITAL ANOMALIES

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

(2016) Paraskevi Karagianni 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

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

(2015) Glynis Frans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spinal ependymoma in a patient with Kabuki syndrome: a case report

(2015) Davide Roma et al.   BMC Medical Genetics

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

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

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

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

Congenital corneal staphyloma as a complication of Kabuki syndrome

(2012) Ryuma Tanaka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome

(2012) Nancy Mizue Kokitsu-Nakata et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

(2012) S Banka et al.   CLINICAL 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

Cancer predisposition in children with Kabuki syndrome

(2011) Michela Casanova 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

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

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

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

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS