Associated Papers
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Sinha S et al.
Nature Communications, 2025
[Kabuki syndrome caused by pathogenic variants in the KMT2D gene: report of two cases].
Cai MF et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Geysens M et al.
Genome Medicine, 2025
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.
Liu R et al.
Cancer Science, 2023
Gene mutation analysis of oral submucous fibrosis cancerization in Hainan Island.
Li B et al.
Peerj, 2023
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.
Frank MS et al.
Cancers, 2021
Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.
Bastos-Oreiro M et al.
Scientific Reports, 2021
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 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
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D et al.
American Journal of Medical Genetics. Part A, 2020
Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.
Hirotsu Y et al.
Frontiers in Oncology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.
González-Rincón J et al.
Plos One, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott DA et al.
American Journal of Medical Genetics. Part A, 2016
Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.
Margolskee E et al.
Oncotarget, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 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
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
Morin RD et al.
Nature, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011