Jean Muller
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Website:
http://www-bio3d-igbmc.u-strasbg.fr/~jmuller/Google:
"Jean Muller"Parents
Sign in to add mentor| Peer Bork | grad student | 2007-2009 | European Molecular Biology Laboratory (EMBL) |
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Publications
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| Karam A, Delvallée C, Estrada-Cuzcano A, et al. (2023) WGS Revealed Novel Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. International Journal of Molecular Sciences. 24 |
| Lejeune C, Robert-Viard C, Meunier-Beillard N, et al. (2022) The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol. Frontiers in Genetics. 13: 852472 |
| Geoffroy V, Guignard T, Kress A, et al. (2021) AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Nucleic Acids Research |
| Okutman O, Tarabeux J, Muller J, et al. (2021) Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility. Genes. 12 |
| Kousi M, Söylemez O, Ozanturk A, et al. (2020) Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature Genetics |
| Mauring L, Porter LF, Pelletier V, et al. (2020) Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in , Including a Variation. Frontiers in Genetics. 11: 938 |
| Kröll-Hermi A, Ebstein F, Stoetzel C, et al. (2020) Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. Embo Molecular Medicine. e11861 |
| Gouronc A, Zilliox V, Jacquemont ML, et al. (2020) High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical Genetics |
| Okutman Ö, Demirel C, Tülek F, et al. (2020) Homozygous Splice Site Mutation in Causes Familial Oocyte Maturation Defect. Genes. 11 |
| Estrada-Cuzcano A, Etard C, Delvallée C, et al. (2019) Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Human Mutation |