Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene-Reference-Cited by-同舟云学术

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene

Published:2022-09 Issue:9 Volume:65 Page:104556
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Coursimault Juliette^ORCID,Goldenberg Alice,Nicolas Gaël,Saugier-Veber Pascale,Coutant Sophie,Vincent Anne,Pouliquen Dorothée,Feltin Cécile,Aref‐Eshghi Erfan,Sadikovic Bekim,Lecoquierre François

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

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2. Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions;Aref-Eshghi;Am. J. Hum. Genet.,2019

3. Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome;Aref‐Eshghi;Hum. Mutat.,2019

4. Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders;Aref-Eshghi;Am. J. Hum. Genet.,2020

5. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome;Bend;Clin. Epigenet.,2019

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1. Epigenomic mechanisms and episignature biomarkers in rare diseases;Epigenetics in Human Disease;2024

2. Validation of the ACMG/AMP guidelines-based seven-category variant classification system;2023-01-25

3. Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations;Genes;2022-12-01

4. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants;European Journal of Human Genetics;2022-11-25