Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene-Reference-Cited by-同舟云学术

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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Published:2024-03 Issue:3 Volume:26 Page:101041
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Karimi Karim,Mol Merel O.,Haghshenas Sadegheh,Relator Raissa,Levy Michael A.,Kerkhof Jennifer,McConkey Haley,Brooks Alice,Zonneveld-Huijssoon Evelien,Gerkes Erica H.,Tedder Matthew L.,Vissers Lisenka,Salzano Emanuela,Piccione Maria,Asaftei Sebastian Dorin,Carli Diana,Mussa Alessandro,Shukarova-Angelovska Elena,Trajkova Slavica,Brusco Alfredo,Merla Giuseppe,Alders Marielle M.,Bouman Arjan,Sadikovic Bekim^ORCID

Funder

Ontario Genomics Institute

Ministero dell’Istruzione, dell’Università e della Ricerca

Genome Canada

Government of Canada

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference49 articles.

1. Estimating linkage disequilibrium from genotypes under Hardy-Weinberg equilibrium;Hui;BMC Genet,2020

2. Intellectual disability and rare disorders: a diagnostic challenge;Kvarnung;Adv Exp Med Biol,2017

3. Function and information content of DNA methylation;Schübeler;Nature,2015

4. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides;Cooper;Hum Genomics,2010

5. Genetics meets DNA methylation in rare diseases;Velasco;Clin Genet,2019

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