A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada

Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome

(2020) Christina Theodore-Oklota et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurobehavioral features in individuals with Kabuki syndrome

(2018) Cristina Caciolo et al.   Molecular Genetics & Genomic Medicine

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

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

Evidence-based milestone ages as a framework for developmental surveillance

(2017) Cara F Dosman et al.   Paediatrics & Child Health

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

(2016) Nina Bögershausen et al.   HUMAN MUTATION

A novel KMT2D mutation resulting in Kabuki syndrome: A case report

(2016) Jun Lu et al.   Molecular Medicine Reports

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

(2015) Shuang Liu et al.   BMC Medical Genetics

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

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

IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP)

(2010) T. Charman et al.   PSYCHOLOGICAL MEDICINE