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Stylianos E. Antonarakis

Stylianos E. Antonarakis

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Genetics
Switzerland
2026
Award Badge
Medicine
Switzerland
2026

D-Index & Metrics

Genetics

D-Index
162
Citations
132431
World Ranking
90
National Ranking
2

Medicine

D-Index
162
Citations
132744
World Ranking
696
National Ranking
8

Research.com Recognitions

  • 2026 - Research.com Genetics in Switzerland Leader Award
  • 2026 - Research.com Medicine in Switzerland Leader Award
  • 2025 - Research.com Genetics in Switzerland Leader Award
  • 2025 - Research.com Medicine in Switzerland Leader Award
  • 2024 - Research.com Genetics in Switzerland Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Switzerland Leader Award
  • 2023 - Research.com Genetics in Switzerland Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Switzerland Leader Award
  • 2019 - William Allan Award, the American Society of Human Genetics
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the Association of American Physicians
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the Association of American Physicians
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the Association of American Physicians
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the Association of American Physicians

Overview

Stylianos E. Antonarakis is affiliated with the University of Geneva in Switzerland. Their research primarily lies within the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a focus on specific subfields including Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Cell Biology, and Plant Science.

The scientist's work covers several important topics, notably Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genomics and Phylogenetic Studies, RNA and protein synthesis mechanisms, and Chromosomal and Genetic Variations.

Recent publications authored or co-authored by Stylianos E. Antonarakis include:

  • The complete sequence of a human genome, 2022, Science
  • Down syndrome, 2020, Nature Reviews Disease Primers
  • The complete sequence of a human genome, 2021, bioRxiv (Cold Spring Harbor Laboratory)
  • Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome, 2021, The American Journal of Human Genetics
  • De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects, 2020, The American Journal of Human Genetics

Stylianos E. Antonarakis frequently publishes in the following venues:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • NeuroMolecular Medicine
  • Nature Communications

Collaboration plays an important role in their research with frequent co-authors including Emmanuelle Ranza, Muhammad Ansar, Xavier Blanc, Federico Santoni, and Sohail Aziz Paracha.

The scientist has been recognized by several professional organizations and has received awards such as the William Allan Award from the American Society of Human Genetics in 2019. They are also a member of the Association of American Physicians and the European Molecular Biology Organization (EMBO).

Best Publications

  • Initial sequencing and comparative analysis of the mouse genome.

    Robert H. Waterston;Kerstin Lindblad-Toh;Ewan Birney;Jane Rogers

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • Landscape of transcription in human cells

    Sarah Djebali;Carrie A. Davis;Angelika Merkel;Alex Dobin

  • The ENCODE (ENCyclopedia of DNA elements) Project

    E. A. Feingold;P. J. Good;M. S. Guyer;S. Kamholz

  • An integrated encyclopedia of DNA elements in the human genome

    Ian Dunham;Anshul Kundaje;Shelley F. Aldred;Patrick J. Collins

  • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

    Ladeana W. Hillier;Webb Miller;Ewan Birney;Wesley Warren

  • Transcriptome and genome sequencing uncovers functional variation in humans

    Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen

  • Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

    Johan T. den Dunnen;Stylianos E. Antonarakis

  • Positional cloning of the APECED gene

    Kentaro Nagamine;Pärt Peterson;Hamish S. Scott;Jun Kudoh

  • A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

    Richard M. Myers;John Stamatoyannopoulos;Michael Snyder;Ian Dunham

  • A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

    Jacques Fellay;Kevin V. Shianna;Dongliang Ge;Sara Colombo

  • The DNA sequence of human chromosome 21

    M. Hattori;A. Fujiyama;T. D. Taylor;H. Watanabe

  • Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia

    Cathryn M. Lewis;Douglas F. Levinson;Lesley H. Wise;Lynn E. DeLisi

  • The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

    Christine G. Elsik;Christine G. Elsik;Christine G. Elsik;Ross L. Tellam;Kim C. Worley;Kim C. Worley;Richard A. Gibbs

  • HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    Johan T den Dunnen;Raymond Dalgleish;Donna R Maglott;Reece K Hart

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene.

    Gregg L. Semenza;Mary K. Nejfelt;Suzie M. Chi;Stylianos E. Antonarakis

  • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

    Lydia Hendriks;Cornelia M. van Duijn;Patrick Cras;Marc Cruts

  • Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

    Stuart H. Orkin;Haig H. Kazazian;Stylianos E. Antonarakis;Sabra C. Goff

  • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.

    Delia Lakich;Haig H. Kazazian;Stylianos E. Antonarakis;Stylianos E. Antonarakis;Jane Gitschier

Frequent Co-Authors

Haig H. Kazazian
Haig H. Kazazian Johns Hopkins University School of Medicine
Jean-Louis Blouin
Jean-Louis Blouin University of Geneva
Michel Guipponi
Michel Guipponi University of Geneva
Alexandre Reymond
Alexandre Reymond University of Lausanne
Hamish S. Scott
Hamish S. Scott University of Adelaide
Colette Rossier
Colette Rossier University of Geneva
Emmanouil T. Dermitzakis
Emmanouil T. Dermitzakis University of Geneva
Christelle Borel
Christelle Borel University of Geneva
Robert Lyle
Robert Lyle Oslo University Hospital
Aravinda Chakravarti
Aravinda Chakravarti New York University Langone Medical Center

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