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Jean Muller

MCU-PH

France

Research Interests

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Professors in France Professors in Biostatistics Biostatistics professors in France

Articles (24)

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2026

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2021

Collaborators (40)

Abderaouf Hamza

Assistant Lecturer

Université Paris Cité

FRANCE

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João Fernando Pereira Mendes

Assistant Professor

University of Coimbra

PORTUGAL

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Laetitia Gouas

Université Clermont Auvergne

FRANCE

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Benjamin Fournier

Professor

Université Paris-Saclay

FRANCE

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Sylvie Jaillard

FRANCE

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Agnes Bloch-Zupan

Subgroup LEADER : Craniofacial and oral developments, and their associated abnormalities; Teams : Pathophysiology of Down's syndrome and rare dose-effect diseases causing intellectual disabilities (ID) or autism spectrum disorders (ASD) and other comorbidities

University of Strasbourg

FRANCE

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Anne Bergougnoux

Assistant Professor

University of Montpellier

FRANCE

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Paul Kuentz

Professeur des Universités-Praticien Hospitalier

Centre Hospitalier Universitaire Vaudois

FRANCE

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Richard Redon

INSERM

FRANCE

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Louise-Marie CHEVALIER

Institut de Cancérologie de l'Ouest

FRANCE

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Caroline Rooryck

Head of Medical Genetics department

University of Bordeaux

FRANCE

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Katarzyna Milska-Musa

ASSISTANT PROFESSOR

Medical University of Gdansk

POLAND

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Eric Pasmant

Head

Institut Curie

FRANCE

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Sarah Baer

Chief of resident

Hôpitaux universitaires de Strasbourg

FRANCE

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Peter Kühnen

Group Leader

Charité - Universitätsmedizin Berlin

GERMANY

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Borut Peterlin

Head

SLOVENIA

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Jean-François Deleuze

Université Paris-Saclay

FRANCE

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Raphael Leman

INSERM

FRANCE

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Matthieu Egloff

université de poitiers inserm 1084

FRANCE

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Pierre Vande Perre

Institut Claudius Regaud

FRANCE

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Hélène Cavé

PUPH, Head of the molecular Genetics unit

Hôpital Robert-Debré

FRANCE

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Florence Petit

Université de Lille

FRANCE

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Patrick Edery

Professor

Université Claude Bernard Lyon 1

FRANCE

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Andree Delahaye-Duriez

Integrative Genomics in Neurodevelopment group leader

INSERM

FRANCE

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Florence de Fraipont

University Hospital

FRANCE

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Thomas Wirth

Professor (full)

University of Strasbourg

FRANCE

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Marie Préau

FRANCE

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Stéphane Viville

University of Strasbourg

FRANCE

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Catherine Chaussain

Prof

Université Paris Cité

FRANCE

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Monika Grudzinska Pechhacker

Karolinska Institutet

SWEDEN

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Antoine Italiano

Université Paris-Saclay

FRANCE

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Gael Nicolas

PUPH

University of Rouen

FRANCE

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jean-françois benoist

Professor

Université Paris-Saclay

FRANCE

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laïla el khattabi

Sorbonne Université Faculté de Médecine

FRANCE

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Sylvie Friant

Research Director CNRS

University of Strasbourg

FRANCE

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Jozef Gecz

Chair for the Prevention of Childhood Disability

South Australian Health and Medical Research Institute

AUSTRALIA

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Pierre Laurent-Puig

Université Paris Descartes

FRANCE

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Valerie Seror

INSERM

FRANCE

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Pauline Arnaud

INSERM

FRANCE

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Jean Muller

Research Interests

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Articles (24)

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants

Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.

No role of intronic expansions in HSF1 for essential tremor in Europe.

&lt;i&gt;PFMG2025&lt;/i&gt;-integrating genomic medicine into the national healthcare system in France.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome region aware CADD thresholds for noncoding variant prioritization

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Real‐World Efficacy and Safety of Setmelanotide in Adults With Monogenic or Syndromic Obesity: A Prospective Cohort Study

Correction: Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision &amp; Evidence.

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Bi-allelic <i>PRMT9</i> loss-of-function variants cause a syndromic form of intellectual disability

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest

WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

The AnnotSV webserver in 2023: updated visualization and ranking

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet–Biedl syndrome

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Collaborators (40)

Abderaouf Hamza

João Fernando Pereira Mendes

Laetitia Gouas

Benjamin Fournier

Sylvie Jaillard

Agnes Bloch-Zupan

Anne Bergougnoux

Paul Kuentz

Richard Redon

Louise-Marie CHEVALIER

Caroline Rooryck

Katarzyna Milska-Musa

Eric Pasmant

Sarah Baer

Peter Kühnen

Borut Peterlin

Jean-François Deleuze

Raphael Leman

Matthieu Egloff

Pierre Vande Perre

Hélène Cavé

Florence Petit

Patrick Edery

Andree Delahaye-Duriez

Florence de Fraipont

Thomas Wirth

Marie Préau

Stéphane Viville

Catherine Chaussain

Monika Grudzinska Pechhacker

Antoine Italiano

Gael Nicolas

jean-françois benoist

laïla el khattabi

Sylvie Friant

Jozef Gecz

Antonio Vitobello

Pierre Laurent-Puig

Valerie Seror

Pauline Arnaud

Make your next move.

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.