DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies-Reference-Cited by-同舟云学术

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Published:2022-01 Issue:1 Volume:24 Page:51-60
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kerkhof Jennifer,Squeo Gabriella Maria,McConkey Haley,Levy Michael A.,Piemontese Maria Rosaria,Castori Marco,Accadia Maria,Biamino Elisa,Della Monica Matteo,Di Giacomo Marilena Carmela,Gervasini Cristina,Maitz Silvia,Melis Daniela,Milani Donatella,Piccione Maria,Prontera Paolo,Selicorni Angelo,Sadikovic Bekim,Merla Giuseppe

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference21 articles.

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2. DNA methylation in the diagnosis of monogenic diseases;Cerrato;Genes (Basel),2020

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

4. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders;Sadikovic;Genet Med,2021

5. Platt JC. Probabilistic Outputs for Support Vector Machines and Comparisons to Regularized Likelihood Methods. In: Press M, editor. Advances in Large Margin Classifiers.1999.

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