Associated Papers
Late-Onset Bilateral Malignant Ciliary Body Medulloepithelioma in an Adult.
Kaimi Y et al.
Pathology International, 2026
Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.
Gaudillière M et al.
Cureus, 2026
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
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M et al.
Journal of Clinical Immunology, 2024
De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.
Al Delbany D et al.
Cells, 2024
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 2024
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Lee CL et al.
Diagnostics (basel, Switzerland), 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Expression Analysis and Mutational Status of Histone Methyltransferase KMT2D at Different Upper Tract Urothelial Carcinoma Locations.
Laukhtina E et al.
Journal of Personalized Medicine, 2021
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.
Zhou Y et al.
Neoplasia (new York, N.y.), 2018
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 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
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
Morgan AT et al.
American Journal of Medical Genetics. Part A, 2015
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N et al.
American Journal of Medical Genetics. Part A, 2013
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.
Kim SJ et al.
Korean Journal of Pediatrics, 2013
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011