Jean Muller

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 22

Top Venues

Clinical genetics

Human mutation

European journal of human genetics : EJHG

Human reproduction (Oxford, England)

Laboratoire de Génétique Médicale (UMR_S Inserm U1112)

Université de Strasbourg (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Laboratoire de Génétique Médicale (UMR_S Inserm U1112) Apr 18 2015

France

MCU-PH

Hôpitaux universitaires de Strasbourg Sep 01 2009

France

Biologist :: Laboratoire de Diagnostic Génétique

European Molecular Biology Laboratory Jan 01 2006 - Aug 31 2009

Germany

Postdoc :: Bork lab

Centre de Recherche Public de la Santé Sep 01 2002 - Dec 31 2006

Luxembourg

Phd Student :: Laboratory of molecular biology, genomics and modelling

Education History

Université de Strasbourg Sep 03 2002 - Dec 01 2006

France

PHD

Publications

Hélène Dollfus, Marc R Lilien, Pietro Maffei, Alain Verloes, Jean Muller, Giacomo Maria Bacci, Metin Cetiner, Erica L T van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn F Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M van Haelst, Jens König, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart Peter Leroy, Héléna Mosbah, Albertien M Van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. European journal of human genetics : EJHG (2024)
Özlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest. Human reproduction (Oxford, England) 38 (2) (2023)
Véronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, Samuel Nicaise, Arnaud Kress, Sophie Scheidecker, Antony Le Béchec, Jean Muller
The AnnotSV webserver in 2023: updated visualization and ranking. Nucleic acids research (2023)
Özlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest. Human reproduction (Oxford, England) 38 (2) (2023)
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, French Exome Consortium, Richard Redon, Florian Sandron, Anne Boland-Auge, Jean François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. International journal of molecular sciences 24 (10) (2023)
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-Reum Han, Ho Min Kim, Marja Wessels, Carolina Alvarez, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P M de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph D Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K Grange, Marjolaine Willems, Michael C Kruer, Jaewon Ko, Amelie Piton, Ji Won Um
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature communications 13 (1) (2022)
Cécile Grèze, Jean Muller, Larissa Schindler, Sylvie Rossignol, Nadia Messaddeq, Anna Zinetti-Bertschy, Nathalie Goetz, Hélène Dollfus, Isabelle Koscinski
In Vitro Fertilization assisted by IntraCytoplasmic Sperm Injection in a male patient with Bardet-Biedl syndrome. Clinical genetics 101 (5-6) (2022)
Özlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest. Human reproduction (Oxford, England) (2022)
Ozlem Okutman, Julien Tarabeux, Jean Muller, Stéphane Viville
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility. Genes 12 (3) (2021)
Véronique Geoffroy, Thomas Guignard, Arnaud Kress, Jean-Baptiste Gaillard, Tor Solli-Nowlan, Audrey Schalk, Vincent Gatinois, Hélène Dollfus, Sophie Scheidecker, Jean Muller
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Nucleic acids research 49 (W1) (2021)
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. International journal of molecular sciences 22 (12) (2021)
Salima El Chehadeh, Anne Legrand, Corinne Stoetzel, Véronique Geoffroy, Clarisse Billon, Salma Adham, Xavier Jeunemaître, Roland Jaussaud, Jean Muller, Elise Schaefer, Karelle Benistan, Sébastien Gaertner, Agnès Bloch-Zupan, Aymeric Courval, Marie-Cécile Manière, Catherine Petit, Anne-Claire Bursztejn, Laurence Bal, Anthony Reyre, Agathe Chammas, Tiffany Busa, Hélène Dollfus, Dan Lipsker
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype. Clinical genetics 100 (2) (2021)
Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E Davis, Hélène Dollfus, Jean Muller
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. Clinical genetics 99 (2) (2020)
Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A Cassa, Harrison Brand, Jill Anne Rosenfeld, Maxim Y Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A Lewis, Michael E Talkowski, Hélène Dollfus, Manolis Kellis, Erica E Davis, Shamil R Sunyaev, Nicholas Katsanis
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nature genetics 52 (11) (2020)
Ariane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg-Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean-François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. EMBO molecular medicine 12 (7) (2020)
Aurélie Gouronc, Vincent Zilliox, Marie-Line Jacquemont, Françoise Darcel, Anne-Sophie Leuvrey, Elsa Nourisson, Manuela Antin, Jean-Luc Alessandri, Bérénice Doray, Paul Gueguen, Frédérique Payet, Hanitra Randrianaivo, Corinne Stoetzel, Sophie Scheidecker, Hugues Flodrops, Hélène Dollfus, Jean Muller
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical genetics 98 (2) (2020)
Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes 11 (4) (2020)
Laura Mary, Kirsley Chennen, Corinne Stoetzel, Manuela Antin, Anne Leuvrey, Elsa Nourisson, Elisabeth Alanio-Detton, Maria C Antal, Tania Attié-Bitach, Patrice Bouvagnet, Raymonde Bouvier, Annie Buenerd, Alix Clémenson, Louise Devisme, Bernard Gasser, Brigitte Gilbert-Dussardier, Fabien Guimiot, Philippe Khau Van Kien, Brigitte Leroy, Philippe Loget, Jelena Martinovic, Fanny Pelluard, Marie-Josée Perez, Florence Petit, Lucile Pinson, Caroline Rooryck-Thambo, Olivier Poch, Hélène Dollfus, Elise Schaefer, Jean Muller
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clinical genetics 95 (3) (2020)
Alejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Aline Schneider, Fouzia Studer, Francesca Mattioli, Kirsley Chennen, Sabine Sigaudy, Damien Plassard, Olivier Poch, Amelie Piton, Uwe Strahle, Jean Muller, Hélène Dollfus
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Human mutation 41 (1) (2019)
Sophie Scheidecker, Séverine Bär, Corinne Stoetzel, Véronique Geoffroy, Béatrice Lannes, Bruno Rinaldi, Frédéric Fischer, Hubert D Becker, Valérie Pelletier, Cécile Pagan, Cécile Acquaviva-Bourdain, Stéphane Kremer, Marc Mirande, Christine Tranchant, Jean Muller, Sylvie Friant, Hélène Dollfus
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Human mutation 40 (10) (2019)
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault, Séverine Bär, Ariane Kröll, Marion Delbarre, Manuela Antin, Anne-Sophie Leuvrey, Charline Henry, Hélène Blanché, Eva Decker, Katja Kloth, Günter Klaus, Christoph Mache, Dominique Martin-Coignard, Steven McGinn, Anne Boland, Jean-François Deleuze, Sylvie Friant, Sophie Saunier, Jean-Michel Rozet, Carsten Bergmann, Hélène Dollfus, Jean Muller
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Human mutation 39 (7) (2018)
Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Patrick Callier, Jean Muller, Gaetan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoit Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean-Louis Mandel, Laurence Faivre, Amélie Piton
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. European journal of human genetics : EJHG 25 (4) (2017)
Claire Guissart, Nathalie Drouot, Ibrahim Oncel, Bruno Leheup, Ruth Gershoni-Barush, Jean Muller, Sacha Ferdinandusse, Lise Larrieu, Mathieu Anheim, Elif Acar Arslan, Mireille Claustres, Christine Tranchant, Haluk Topaloglu, Michel Koenig
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). European journal of human genetics : EJHG 24 (8) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Jean Muller