Jean Muller

Strasbourg, France

Last Updated: 09/26/2026

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Found 75 publications

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, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Journal: Stem cell research

Published: May 22, 2026

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

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

Journal: Brain : a journal of neurology

Published: December 24, 2025

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

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

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

Journal: Journal of assisted reproduction and genetics

Published: November 09, 2025

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

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

Journal: Stem cell research

Published: November 06, 2025

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

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

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: May 19, 2025

Genome region aware CADD thresholds for noncoding variant prioritization.

Genome region aware CADD thresholds for noncoding variant prioritization.

Journal: NAR genomics and bioinformatics

Published: April 26, 2025

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

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

Journal: Clinical obesity

Published: April 16, 2025

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

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

Journal: Obesity (Silver Spring, Md.)

Published: March 23, 2025

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

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

Journal: Clinical genetics

Published: March 05, 2025

Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France

Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France

Journal: Medecine sciences : M/S

Published: October 25, 2024

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Showing 1-12 of 75

Last Updated: 09/26/2026