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Genetics

D-Index
42
Citations
9299
World Ranking
4310
National Ranking
69

Overview

Christelle Borel is affiliated with the University of Geneva in Switzerland. Their research primarily intersects the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Within these domains, their work focuses on several subfields including Genetics, Molecular Biology, Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health, and Surgery.

The main research topics addressed by Christelle Borel encompass gynecological conditions and treatments, prenatal screening and diagnostics, craniofacial disorders and treatments, hedgehog signaling pathway studies, congenital anomalies and fetal surgery, protein tyrosine phosphatases, and dermatological and skeletal disorders.

Christelle Borel has contributed to multiple publications in scientific journals, with notable recent papers including:

  • Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome, 2021, The American Journal of Human Genetics
  • FOXI3 pathogenic variants cause one form of craniofacial microsomia, 2023, Nature Communications
  • Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2, 2021, Human Molecular Genetics
  • Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome, 2022, Genetics in Medicine
  • Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome, 2023, Human Genetics and Genomics Advances

Their collaborative network includes frequent co-authors such as Stylianos E. Antonarakis, Sen Zhao, Angad Jolly, James R. Lupski, and Nan Wu. This collaboration reflects interdisciplinary engagement across genetics and molecular biology.

Christelle Borel's publications appear in diverse scientific venues, including:

  • The American Journal of Human Genetics
  • Nature Communications
  • Human Molecular Genetics
  • Genetics in Medicine
  • Human Genetics and Genomics Advances

The body of research from Christelle Borel covers genetic and molecular investigations into congenital and developmental disorders, with a particular focus on genetic factors involved in gynecological syndromes and craniofacial anomalies. The continuous contributions demonstrate an ongoing involvement in elucidating genetic etiologies and expanding understanding in medical genetics and related biomedical fields.

Best Publications

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

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

  • Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner

    Antigone S. Dimas;Samuel Deutsch;Barbara Elaine Stranger;Barbara Elaine Stranger;Stephen B. Montgomery

  • Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3′ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phenotypes

    Praveen Sethupathy;Christelle Borel;Maryline Gagnebin;Gregory R. Grant

  • Passive and active DNA methylation and the interplay with genetic variation in gene regulation

    Maria Gutierrez-Arcelus;Maria Gutierrez-Arcelus;Tuuli Lappalainen;Tuuli Lappalainen;Stephen B Montgomery;Stephen B Montgomery;Alfonso Buil;Alfonso Buil

  • Genetic structure of Europeans: a view from the North-East

    Mari Nelis;Mari Nelis;Tõnu Esko;Tõnu Esko;Reedik Mägi;Fritz Zimprich

  • HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes

    Vincent Piguet;Lei Wan;Christelle Borel;Aram Mangasarian

  • Multi-omic measurements of heterogeneity in HeLa cells across laboratories

    Yansheng Liu;Yang Mi;Yang Mi;Torsten Mueller;Saskia Kreibich

  • Domains of genome-wide gene expression dysregulation in Down/'s syndrome

    Audrey Letourneau;Federico A. Santoni;Ximena Bonilla;M. Reza Sailani

  • Evidence for transcript networks composed of chimeric RNAs in human cells.

    Sarah Djebali;Julien Lagarde;Philipp Kapranov;Vincent Lacroix

  • Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

    Maria Gutierrez-Arcelus;Halit Ongen;Tuuli Lappalainen;Stephen B. Montgomery

  • Chromatin three-dimensional interactions mediate genetic effects on gene expression

    Olivier Delaneau;Olivier Delaneau;M Zazhytska;Christelle Borel;G Giannuzzi

  • Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

    Sergey V. Voronov;Samuel G. Frere;Silvia Giovedi;Elizabeth A. Pollina

  • DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

    Claudia Canzonetta;Claire Mulligan;Samuel Deutsch;Sandra Ruf

  • Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

    Isabelle Stévant;Isabelle Stévant;Yasmine Neirijnck;Christelle Borel;Jessica Escoffier

  • Biased Allelic Expression in Human Primary Fibroblast Single Cells

    Christelle Borel;Pedro G. Ferreira;Federico Santoni;Olivier Delaneau;Olivier Delaneau

  • Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

    Yansheng Liu;Christelle Borel;Li Li;Torsten Müller

  • New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism

    Philipp Kapranov;Fatih Ozsolak;Sang Woo Kim;Sylvain Foissac

  • Functional genetic variation of human miRNAs and phenotypic consequences.

    Christelle Borel;Stylianos E. Antonarakis

  • Regulation of fibrinogen production by microRNAs

    Alexandre Fort;Christelle Borel;Eugenia Migliavacca;Eugenia Migliavacca;Stylianos E. Antonarakis

  • SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.

    Zine‐Eddine Kherraf;Marie Christou‐Kent;Thomas Karaouzene;Amir Amiri‐Yekta;Amir Amiri‐Yekta

Frequent Co-Authors

Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva
Emmanouil T. Dermitzakis
Emmanouil T. Dermitzakis University of Geneva
Andrew J. Sharp
Andrew J. Sharp Icahn School of Medicine at Mount Sinai
Michel Guipponi
Michel Guipponi University of Geneva
Christian Trepo
Christian Trepo Hospices Civils de Lyon
Stephen B. Montgomery
Stephen B. Montgomery Stanford University
Serge Nef
Serge Nef University of Geneva
Mark Lathrop
Mark Lathrop McGill University

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Related Online Degrees & Career Pathways

If you’re interested in genetics, you’ll find a wide range of related online degrees and career pathways to consider. Genetics provides a foundation for many in-demand areas in healthcare, life sciences, and administration.

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No matter your interests, there are accessible and rewarding pathways that integrate genetics knowledge into dynamic healthcare careers.

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