Associated Papers
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tkemladze T et al.
European Journal of Human Genetics : Ejhg, 2026
41044236 (PubMed )
Supplement: 41431_2025_1939_MOESM2_ESM.xlsx › Suppl_Table_2
Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.
Khouja M et al.
Leukemia, 2026
41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Priestley JRC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Driver mutations occur frequently in metastases of well-differentiated small intestine neuroendocrine tumours.
Samsom KG et al.
Histopathology, 2021
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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
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