Associated Papers
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.
Doğan Arı AB et al.
European Journal of Medical Genetics, 2025
[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Gan L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Yoon JH et al.
Journal of Human Genetics, 2024
Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.
Ramirez CA et al.
Blood Advances, 2024
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.
Rosenfeld E et al.
Journal of the Endocrine Society, 2024
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L et al.
Journal of Clinical Immunology, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Usluer E et al.
American Journal of Medical Genetics. Part A, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pode-Shakked B et al.
Pediatric Nephrology (berlin, Germany), 2022
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Huang L et al.
Molecular Genetics and Genomics : Mgg, 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
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.
Yi T et al.
Frontiers in Genetics, 2022
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Merdler-Rabinowicz R et al.
Pediatric Nephrology (berlin, Germany), 2021
Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.
Wobser M et al.
Cancers, 2021
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Kostopoulou E et al.
Clinical Endocrinology, 2021
Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.
Merati G et al.
Frontiers in Oncology, 2021
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Sakaria RP et al.
Frontiers in Genetics, 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
Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting.
Sun H et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2020
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
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR et al.
Genome Research, 2019
Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
Evrard SM et al.
Haematologica, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N et al.
European Journal of Human Genetics : Ejhg, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N et al.
Clinical Genetics, 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
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
Haanpää M et al.
American Journal of Medical Genetics. Part A, 2017
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 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
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM et al.
Human Molecular Genetics, 2015
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
Morgan AT et al.
American Journal of Medical Genetics. Part A, 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
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
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L et al.
Orphanet Journal of Rare Diseases, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010