Stylianos E Antonarakis

14PUBLICATIONS
174CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Genome structure and regulationMedical devicesSocial epidemiologyAerospace structures
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Publications (14)

|Jul 16, 2026
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Dec 04, 2025
Small nuclear RNA genes in Mendelian disorders.

Stylianos E Antonarakis

|May 17, 2025
Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.

Xiaopeng Xu, Qi Chen, Qingpei Huang

|Mar 02, 2025
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries.

Ambroise Wonkam, Kevin Esoh, Rachel M Levine

|Apr 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Ke Mao, Christelle Borel, Muhammad Ansar

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Frequent Collaborators

2 joint publications

Yong-Biao Zhang

2 joint publications

Timothy C Cox

2 joint publications

Justyna Iwaszkiewicz

1 joint publications

Christian M Korff