Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.
Sabatini PJB et al.
Journal of Clinical Pathology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.
Kubota H et al.
Blood Advances, 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 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
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
Reis LM et al.
Genes, 2023
Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.
Jorge SD et al.
Frontiers in Genetics, 2023
Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.
Standing S et al.
Cancers, 2022
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Frauenfeld L et al.
Blood Advances, 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
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H et al.
Orphanet Journal of Rare Diseases, 2019
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change.
Tsai KK et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Faundes V et al.
Journal of Human Genetics, 2019
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Genomic Evolution after Chemoradiotherapy in Anal Squamous Cell Carcinoma.
Mouw KW et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott DA et al.
American Journal of Medical Genetics. Part A, 2016
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
Structural basis for activity regulation of MLL family methyltransferases.
Li Y et al.
Nature, 2016
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
Lindsley AW et al.
The Journal of Allergy and Clinical Immunology, 2016
Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.
Zhang J et al.
Nature Medicine, 2015
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
Lin JL et al.
Clinical Genetics, 2015
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
Congenital corneal staphyloma as a complication of Kabuki syndrome.
Tanaka R et al.
American Journal of Medical Genetics. Part A, 2012