Associated Papers
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.
Morote-Faubel M et al.
Human Genomics, 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
Low PD-L1 expression, MAP2K2 alterations, and enriched HPV gene signatures characterize brain metastases in head and neck squamous cell carcinoma.
Dennis MJ et al.
Journal of Translational Medicine, 2024
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M et al.
Journal of Clinical Immunology, 2024
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 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
Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.
Das S et al.
Scientific Reports, 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
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Shah SS et al.
American Journal of Medical Genetics. Part A, 2023
Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.
Xu M et al.
Genes, 2022
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Montano C et al.
American Journal of Medical Genetics. Part A, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System.
Zhu Q et al.
Frontiers in Genetics, 2022
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 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
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
Association between Clonal Hematopoiesis and Late Nonrelapse Mortality after Autologous Hematopoietic Cell Transplantation.
Slavin TP et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR et al.
International Journal of Molecular Sciences, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Aref-Eshghi E et al.
Epigenetics, 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
Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type.
Lee S et al.
Oncotarget, 2015
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML et al.
Archives of Disease in Childhood, 2015
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
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report.
Akutsu Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0