Associated Papers
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
Krigstein M et al.
Annals of Laboratory Medicine, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M et al.
Journal of Clinical Immunology, 2024
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C et al.
British Journal of Haematology, 2024
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.
Agustsson VI et al.
Genetics in Medicine Open, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Jung YL et al.
Human Molecular Genetics, 2023
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Shah SS et al.
American Journal of Medical Genetics. Part A, 2023
APOBEC mutagenesis is a common process in normal human small intestine.
Wang Y et al.
Nature Genetics, 2023
c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.
Alp A et al.
Noro Psikiyatri Arsivi, 2023
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Mellis R et al.
Bjog : an International Journal of Obstetrics and Gynaecology, 2022
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Sakaria RP et al.
Frontiers in Genetics, 2021
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H et al.
American Journal of Medical Genetics. Part A, 2020
Holoprosencephaly in Kabuki syndrome.
Daly T et al.
American Journal of Medical Genetics. Part A, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR et al.
Genome Research, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT et al.
American Journal of Human Genetics, 2017
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N et al.
Human Mutation, 2016
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L et al.
Orphanet Journal of Rare Diseases, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010