Associated Papers
Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.
Fei F et al.
Oncotarget, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M et al.
European Journal of Human Genetics : Ejhg, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
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
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.
Van Bockstal MR et al.
Molecular Oncology, 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
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
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
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
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S et al.
European Journal of Human Genetics : Ejhg, 2012