World's Best Scientists 2026 revealed!
Emmanuelle Génin

Emmanuelle Génin

D-Index & Metrics

Biology and Biochemistry

D-Index
53
Citations
13397
World Ranking
15989
National Ranking
658

Overview

Emmanuelle Génin is affiliated with Grenoble Alpes University in France and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with additional work intersecting medicine. Their research output includes over one hundred publications primarily focused on genetics and molecular biology, with notable engagement in surgery and cancer research as well.

Their work covers several main topics, including:

  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Pancreatitis Pathology and Treatment
  • Genetic and phenotypic traits in livestock
  • Gastrointestinal disorders and treatments
  • Genomic variations and chromosomal abnormalities
  • Pancreatic and Hepatic Oncology Research

Emmanuelle Génin has published in a variety of scientific venues, with frequent contributions to:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • Genes
  • Genetic Epidemiology
  • Human Genomics

Their highlighted recent papers include:

  • "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease," 2022, Nature Genetics
  • "Expanding ACMG variant classification guidelines into a general framework," 2022, Human Genomics
  • "Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts," 2020, The Lancet Rheumatology
  • "Heritable defects in telomere and mitotic function selectively predispose to sarcomas," 2023, Science
  • "Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia," 2020, Arteriosclerosis Thrombosis and Vascular Biology

Throughout their career, Emmanuelle Génin has collaborated frequently with a network of co-authors, including:

  • Richard Redon
  • Claude Férec
  • Anthony F. Herzig
  • Gaëlle Marenne
  • Anne Boland

Best Publications

  • Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

    Nicolas De Roux;Emmanuelle Genin;Jean Claude Carel;Fumihiko Matsuda

  • Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

    Slaheddine Marrakchi;Philippe Guigue;Blair R. Renshaw;Anne Puel

  • APOE and Alzheimer disease: a major gene with semi-dominant inheritance

    E Genin;D Hannequin;D Wallon;K Sleegers

  • Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.

    Sophie Faure;Laurence Meyer;Dominique Costagliola;Céline Vaneensberghe

  • Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  • Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

    Capucine Picard;Claire Fieschi;Frédéric Altare;Suliman Al-Jumaah

  • Absence of association of thrombophilia polymorphisms with intrauterine growth restriction.

    Claire Infante-Rivard;Georges-Etienne Rivard;Wagner V. Yotov;Emmanuelle Génin

  • Estimation of the Inbreeding Coefficient through Use of Genomic Data

    Anne Louise Leutenegger;Bernard Prum;Emmanuelle Génin;Christophe Verny

  • HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis

    Genin E;Chen Dp;Chen Dp;Hung Si;Sekula P

  • Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

    Joshua C Bis;Xueqiu Jian;Brian W Kunkle;Yuning Chen

  • Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

    Annick Raas-Rothschild;Valerie Cormier-Daire;Ming Bao;Emmanuelle Genin

  • Missing heritability of complex diseases: case solved?

    Emmanuelle Génin

  • Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

    Céline Bellenguez;Céline Bellenguez;Céline Bellenguez;Camille Charbonnier;Benjamin Grenier-Boley;Benjamin Grenier-Boley;Benjamin Grenier-Boley;Olivier Quenez

  • Clinical and molecular genetic features of ARC syndrome

    Paul Gissen;Paul Gissen;Louise Tee;Colin A Johnson;Emmanuelle Genin

  • Identifying modifier genes of monogenic disease: strategies and difficulties

    Emmanuelle Génin;Emmanuelle Génin;Josué Feingold;Josué Feingold;Françoise Clerget-Darpoux;Françoise Clerget-Darpoux

  • Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

    Rana Khaddour;Ursula Smith;Lekbir Baala;Jéléna Martinovic

  • The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

    Thauvin-Robinet C;Munck A;Huet F;Génin E

  • SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

    G Nicolas;C Charbonnier;D Wallon;O Quenez

  • Estimating the age of rare disease mutations: the example of Triple-A syndrome

    E Genin;A Tullio-Pelet;F Begeot;S Lyonnet

  • Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

    Joshua C. Bis;Xueqiu Jian;Brian W. Kunkle;Yuning Chen

Frequent Co-Authors

Claude Férec
Claude Férec University of Western Brittany
Jean-François Deleuze
Jean-François Deleuze University of Paris-Saclay
Richard Redon
Richard Redon University of Nantes
Céline Bellenguez
Céline Bellenguez Institut Pasteur
Benjamin Grenier-Boley
Benjamin Grenier-Boley Institut Pasteur
Dominique Campion
Dominique Campion University of Rouen
Steven Gazal
Steven Gazal University of Southern California
Jian-Min Chen
Jian-Min Chen University of Western Brittany

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying Biology and Biochemistry in the USA opens the door to diverse educational and career paths. Many students pursue careers in healthcare, research, and laboratory sciences, but there are expanding opportunities in flexible online learning as well.

For those interested in nutrition and diet, exploring top dietetics programs in the us can offer specialized training and certification. If you want to quickly enter the health care field, online medical assistant programs with financial aid can provide practical skills while keeping education affordable.

Upward mobility is possible for those starting as medical assistants. The path from medical assistant to lpn allows students to advance in clinical care and open more specialized career options.

For learners seeking academic flexibility or a fast-track path, enrolling in online biology programs offers convenience without sacrificing educational quality. No matter your preferred route, online degrees provide greater accessibility to a range of scientific and health-related careers.

Best Scientists Citing Emmanuelle Génin

Trending Scientists