Stylianos E. Antonarakis

University of Geneva — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

146h-index104.4kcitations916works1.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(187), Genetics and Neurodevelopmental Disorders(107), Genomics and Rare Diseases(93), Prenatal Screening and Diagnostics(67), RNA modifications and cancer(67)

Publications909 total

Early-Onset Retinopathy in Patients With Variants in <i>SLC6A6</i> Leading to Impaired Taurine Transport
JAMA Ophthalmology·2025Open Access
Small nuclear RNA genes in Mendelian disorders
Nature Genetics·2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
2025Open Access
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
The American Journal of Human Genetics·2025· 1 citedOpen Access
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy
Genetics in Medicine·2025· 2 citedOpen Access
Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis
Nature Communications·2025· 1 citedOpen Access
Common<i>cis</i>-regulatory variation modifies the penetrance of pathogenic<i>SHROOM3</i>variants in craniofacial microsomia
Genome Research·2025· 1 citedOpen Access
FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries
Nature Communications·2025· 4 citedOpen Access
Genetic implication of GABA<sub>B</sub> receptors in the etiology of neurological and psychiatric disorders.
PubMed·2025Open Access
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
The American Journal of Human Genetics·2024· 4 citedOpen Access
Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
Journal of Medical Genetics·2024
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1
Ophthalmology Science·2024Open Access
The genetic cause of neurodevelopmental disorders in 30 consanguineous families
Frontiers in Medicine·2024· 6 citedOpen Access
New kinase‐deficient <scp>PAK2</scp> variants associated with Knobloch syndrome type 2
Clinical Genetics·2024· 6 citedOpen Access
Author response for "New kinase‐deficient &lt;scp&gt;PAK2&lt;/scp&gt; variants associated with Knobloch syndrome type 2"
2024
Author response for "New kinase‐deficient &lt;scp&gt;PAK2&lt;/scp&gt; variants associated with Knobloch syndrome type 2"
2024
Dysregulation in Spatiotemporal Expression of <i>HMX1</i> Coordinated by Multifaceted Enhancers Drives an Auricular Disorder
2024· 1 citedOpen Access
Table of Contents
Genetics in Medicine·2023Open Access
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Genetics in Medicine·2023· 18 citedOpen Access
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Nature Communications·2023· 31 citedOpen Access
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Frequent Co-authors

Emmanouil T. Dermitzakis(8), Roderic Guigó(7), Alexandre Reymond(6), Xavier Estivill(6), Haig H. Kazazian(6), Paul Flicek(5), Hans Lehrach(5), Samuel Deutsch(5), Jacqueline Chrast(4), Marta Gut(4), Gerald Nestadt(4), Christelle Borel(4), Michel Guipponi(4), Stephan Beck(3), Tim Hubbard(3), Felix Kokocinski(3), Tyler Alioto(3), Evan E. Eichler(3), Marc Sultan(3), Stephen B. Montgomery(3)