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Jean Muller

"Jean Muller"
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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
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