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Genetics

D-Index
58
Citations
10568
World Ranking
3332
National Ranking
164

Overview

Pierre F. Ray is affiliated with Grenoble Alpes University in France. Their research predominantly spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a particular focus on reproductive and genetic studies.

The scientist's subfields of study include:

  • Reproductive Medicine
  • Genetics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Pediatrics, Perinatology and Child Health

Ray's main research topics concentrate on:

  • Sperm and Testicular Function
  • Reproductive Biology and Fertility
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Genetic and Kidney Cyst Diseases
  • Prenatal Screening and Diagnostics
  • Reproductive Health and Technologies
  • Renal and related cancers

Frequent publication venues where Ray has published include:

  • Clinical Genetics
  • Human Reproduction
  • Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics

They have coauthored extensively with several researchers including:

  • Christophe Arnoult
  • Zine-Eddine Kherraf
  • Caroline Cazin
  • Charles Coutton
  • Nicolas Thierry-Mieg

Among their recent publications are:

  • "The genetic architecture of morphological abnormalities of the sperm tail" (2020), published in Human Genetics
  • "Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility" (2020), published in The American Journal of Human Genetics
  • "Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility" (2021), published in The American Journal of Human Genetics
  • "Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia" (2022), published in The American Journal of Human Genetics
  • "Understanding the genetics of human infertility" (2023), published in Science

Ray's publications have contributed to ongoing research in understanding male infertility, sperm morphology, and the genetic basis of reproductive conditions. Their work spans molecular genetics and applied reproductive medicine, integrating genetic diagnostics with clinical care.

Best Publications

  • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Jeanne Amiel;Béatrice Laudier;Tania Attié-Bitach;Ha Trang

  • Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

    Mariem Ben Khelifa;Mariem Ben Khelifa;Mariem Ben Khelifa;Charles Coutton;Charles Coutton;Raoudha Zouari;Thomas Karaouzène;Thomas Karaouzène

  • Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

    Klaus Dieterich;Ricardo Soto Rifo;Ricardo Soto Rifo;Anne Karen Faure;Anne Karen Faure;Sylviane Hennebicq;Sylviane Hennebicq

  • ESHRE preimplantation genetic diagnosis consortium: Data collection III (May 2001)

    K Sermon;J. C. Harper;J Geraedts;C de Die-Smulders

  • Teratozoospermia: spotlight on the main genetic actors in the human

    Charles Coutton;Jessica Escoffier;Guillaume Martinez;Christophe Arnoult

  • Absence of Triadin, a Protein of the Calcium Release Complex, is Responsible for Cardiac Arrhythmia with Sudden Death in Human

    Nathalie Roux-Buisson;Marine Cacheux;Marine Cacheux;Anne Fourest-Lieuvin;Anne Fourest-Lieuvin;Jeremy Fauconnier

  • Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis.

    Ian Findlay;Pierre Ray;Phil Quirke;Anthony Rutherford

  • DPY19L2 deletion as a major cause of globozoospermia.

    Isabelle Koscinski;Elias ElInati;Camille Fossard;Claire Redin

  • A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

    Radu Harbuz;Radu Harbuz;Raoudha Zouari;Virginie Pierre;Virginie Pierre;Mariem Ben Khelifa;Mariem Ben Khelifa

  • Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

    Charles Coutton;Alexandra S. Vargas;Amir Amiri-Yekta;Amir Amiri-Yekta;Zine-Eddine Kherraf

  • Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization.

    P. F. Ray;J. Conaghan;R. M. L. Winston;A. H. Handyside

  • The genetic architecture of morphological abnormalities of the sperm tail.

    Aminata Touré;Guillaume Martinez;Zine-Eddine Kherraf;Caroline Cazin

  • Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

    Virginie Pierre;Virginie Pierre;Guillaume Martinez;Guillaume Martinez;Charles Coutton;Charles Coutton;Julie Delaroche;Julie Delaroche

  • Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

    Julie Steffann;Nelly Frydman;Nadine Gigarel;Philippe Burlet

  • Genetic abnormalities leading to qualitative defects of sperm morphology or function.

    P.F. Ray;P.F. Ray;A. Toure;A. Toure;A. Toure;C. Metzler-Guillemain;M.J. Mitchell

  • Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis

    Pierre F. Ray;Alan H. Handyside

  • Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

    Frederick N. Dong;Amir Amiri-Yekta;Amir Amiri-Yekta;Guillaume Martinez;Antoine Saut

  • Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

    Charles Coutton;Charles Coutton;Guillaume Martinez;Guillaume Martinez;Zine-Eddine Kherraf;Zine-Eddine Kherraf;Amir Amiri-Yekta;Amir Amiri-Yekta;Amir Amiri-Yekta

  • Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

    Chunyu Liu;Haruhiko Miyata;Yang Gao;Yanwei Sha

  • Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis

    lan Findlay;Pierre Ray;Phil Quirke;Anthony Rutherford

Frequent Co-Authors

Christophe Arnoult
Christophe Arnoult Grenoble Alpes University
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Joël Lunardi
Joël Lunardi Grenoble Alpes University
René Frydman
René Frydman Grenoble Alpes University
Michel Vekemans
Michel Vekemans Université Paris Cité
Gérard Lambeau
Gérard Lambeau Centre national de la recherche scientifique, CNRS
Alain Schmitt
Alain Schmitt Institut Cochin
Serge Nef
Serge Nef University of Geneva
Jean-Paul Bonnefont
Jean-Paul Bonnefont Necker-Enfants Malades Hospital

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