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Author Details

Jean Muller
INSERM, Universite de Strasbourg
2003
96
36
PMIDPaper TitleJournal TitlePublished Year
37240074WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.Int J Mol Sci2023
37221613Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.Genome Med2023
37323646From ecological functions to ecosystem services: linking coastal lagoons biodiversity with human well-being.Hydrobiologia2023
37216590The AnnotSV webserver in 2023: updated visualization and ranking.Nucleic Acids Res2023
35178761In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet-Biedl syndrome.Clin Genet2022
35444683The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol.Front Genet2022
35840571SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.Nat Commun2022
33169370A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.Clin Genet2021
33809228Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.Genes (Basel)2021
33890303Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.Clin Genet2021
34940782Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.Invest Ophthalmol Vis Sci2021
34820659The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell Genom2021
34203883Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.Int J Mol Sci2021
34023905AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.Nucleic Acids Res2021
31549751Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.Hum Mutat2020
32835378Reproduction Function in Male Patients With Bardet Biedl Syndrome.J Clin Endocrinol Metab2020
32973878Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in <i>ALMS1</i>, Including a <i>de novo</i> Variation.Front Genet2020
32361989High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.Clin Genet2020
32244758Homozygous Splice Site Mutation in <i>ZP1</i> Causes Familial Oocyte Maturation Defect.Genes (Basel)2020
30614526Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.Clin Genet2019
31422817Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.Am J Hum Genet2019
31303482The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach.Structure2019
30838594Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.Methods Mol Biol2019
31116475Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.Hum Mutat2019
30761183Identification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl Syndrome.Front Genet2019
30514637[Genetic aspects of male infertility: From bench to clinic].Gynecol Obstet Fertil Senol2019
29688594Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.Hum Mutat2018
30259277Genetic evaluation of patients with non-syndromic male infertility.J Assist Reprod Genet2018
30319441Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.Front Physiol2018
29784605CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.Mol Metab2018
29669011AnnotSV: an integrated tool for structural variations annotation.Bioinformatics2018
29668297PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.Am J Respir Cell Mol Biol2018
28176767Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Eur J Hum Genet2017
28216058SCA13 causes dominantly inherited non-progressive myoclonus ataxia.Parkinsonism Relat Disord2017
28401488A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.J Assist Reprod Genet2017
27004399Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Orphanet J Rare Dis2016
26586152Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.Clin Genet2016
26669662Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).Eur J Hum Genet2016
27230853Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.J Neurol2016
27142713Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.J Neurol2016
26763875Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.J Hum Genet2016
25296579The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.J Hum Genet2015
26068213Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.BMC Med Genet2015
26199321Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.Hum Mol Genet2015
26164358Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths.Forensic Sci Int2015
25846608Alström Syndrome: Mutation Spectrum of ALMS1.Hum Mutat2015
25982971Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.Am J Ophthalmol2015
25619591The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.J Hum Genet2015
25669657Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.Hum Mol Genet2015
25780760VaRank: a simple and powerful tool for ranking genetic variants.PeerJ2015
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Collaborators

Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Co-authored papers 41
University of Wurzburg
Co-authored papers 12
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Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
Co-authored papers 5
Northwestern University
Co-authored papers 4
Tokyo Institute of Technology
Co-authored papers 3
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 3
University of Illinois at Chicago
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University of Illinois at Champaign-Urbana
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University of Birmingham
Co-authored papers 2
The Research Institute of Molecular Pathology
Co-authored papers 2
University of Geneva Medical School
Co-authored papers 2
Sami Ulus Children's Hospital
Co-authored papers 2
National Marine Biodiversity Institute of Korea
Co-authored papers 2
Co-authored papers 2
University of California
Co-authored papers 2
Indiana University
Co-authored papers 2
University of Maryland Baltimore County
Co-authored papers 2
University of Notre Dame
Co-authored papers 2
KU Leuven - University of Leuven
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University of Geneva Medical School
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National Center for Biotechnology Information, National Institutes of Health
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Institute of Infection, University of Liverpool
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Rady Children's Institute for Genomic Medicine
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Institute of Biology I (Zoology), Albert Ludwig University Freiburg
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University of Wurzburg
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