A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans
Bricker, Daniel K., Taylor, Eric B., Schell, John C., Orsak, Thomas, Boutron, Audrey, Chen, Yu-Chan, Cox, James E., Cardon, Caleb M., Van Vranken, Jonathan G., Dephoure, Noah, Redin, Claire, Boudina, Sihem, Gygi, Steven P., Brivet, Michèle, Thummel, Carl S., Rutter, Jared
Published in Science (American Association for the Advancement of Science) (06.07.2012)
Published in Science (American Association for the Advancement of Science) (06.07.2012)
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Journal Article
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
Quartier, Angélique, Chatrousse, Laure, Redin, Claire, Keime, Céline, Haumesser, Nicolas, Maglott-Roth, Anne, Brino, Laurent, Le Gras, Stéphanie, Benchoua, Alexandra, Mandel, Jean-Louis, Piton, Amélie
Published in Biological psychiatry (1969) (15.08.2018)
Published in Biological psychiatry (1969) (15.08.2018)
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Journal Article
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Schaefer, Elise, Stoetzel, Corinne, Scheidecker, Sophie, Geoffroy, Véronique, Prasad, Megana K, Redin, Claire, Missotte, Isabelle, Lacombe, Didier, Mandel, Jean-Louis, Muller, Jean, Dollfus, Hélène
Published in Journal of human genetics (01.05.2016)
Published in Journal of human genetics (01.05.2016)
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Journal Article
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean
Published in Journal of medical genetics (01.08.2012)
Published in Journal of medical genetics (01.08.2012)
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Journal Article
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S
Published in European journal of human genetics : EJHG (29.04.2015)
Published in European journal of human genetics : EJHG (29.04.2015)
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Journal Article
VaRank: a simple and powerful tool for ranking genetic variants
Geoffroy, Véronique, Pizot, Cécile, Redin, Claire, Piton, Amélie, Vasli, Nasim, Stoetzel, Corinne, Blavier, André, Laporte, Jocelyn, Muller, Jean
Published in PeerJ (San Francisco, CA) (03.03.2015)
Published in PeerJ (San Francisco, CA) (03.03.2015)
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Journal Article
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Collins, Ryan L, Brand, Harrison, Redin, Claire E, Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R, Glessner, Joseph T, Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B, Seabra, Catarina M, Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A, Lucente, Diane, Levy, Brynn, Sanders, Stephan J, Wapner, Ronald J, Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E
Published in Genome Biology (06.03.2017)
Published in Genome Biology (06.03.2017)
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Journal Article
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina
Published in European journal of human genetics : EJHG (01.07.2018)
Published in European journal of human genetics : EJHG (01.07.2018)
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Journal Article
Host genomics of SARS-CoV-2 infection
Redin, Claire, Thorball, Christian W, Fellay, Jacques
Published in European journal of human genetics : EJHG (01.08.2022)
Published in European journal of human genetics : EJHG (01.08.2022)
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Journal Article
Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study
de La Harpe, Roxane, Thorball, Christian W, Redin, Claire, Fournier, Stephane, Müller, Olivier, Strambo, Davide, Michel, Patrik, Vollenweider, Peter, Marques-Vidal, Pedro, Fellay, Jacques, Vaucher, Julien
Published in European journal of preventive cardiology (09.05.2023)
Published in European journal of preventive cardiology (09.05.2023)
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Journal Article
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Mohajeri, Kiana, Yadav, Rachita, D'haene, Eva, Boone, Philip M., Erdin, Serkan, Gao, Dadi, Moyses-Oliveira, Mariana, Bhavsar, Riya, Currall, Benjamin B., O'Keefe, Kathryn, Burt, Nicholas D., Lowther, Chelsea, Lucente, Diane, Salani, Monica, Larson, Mathew, Redin, Claire, Dudchenko, Olga, Aiden, Erez Lieberman, Menten, Björn, Tai, Derek J.C., Gusella, James F., Vergult, Sarah, Talkowski, Michael E.
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
Prevalence of actionable pharmacogenetic variants and high‐risk drug prescriptions: A Swiss hospital‐based cohort study
Hodel, Flavia, De Min, Maria B., Thorball, Christian Wandall, Redin, Claire, Vollenweider, Peter, Girardin, François, Fellay, Jacques
Published in Clinical and translational science (01.09.2024)
Published in Clinical and translational science (01.09.2024)
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Journal Article
DPY19L2 Deletion as a Major Cause of Globozoospermia
Koscinski, Isabelle, ElInati, Elias, Fossard, Camille, Redin, Claire, Muller, Jean, Velez de la Calle, Juan, Schmitt, Françoise, Ben Khelifa, Mariem, Ray, Pierre, Kilani, Zaid, Barratt, Christopher L.R., Viville, Stéphane
Published in American journal of human genetics (11.03.2011)
Published in American journal of human genetics (11.03.2011)
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Journal Article
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
Quartier, Angélique, Chatrousse, Laure, Redin, Claire, Keime, Céline, Haumesser, Nicolas, Maglott-Roth, Anne, Brino, Laurent, Le Gras, Stéphanie, Benchoua, Alexandra, Mandel, Jean-Louis, Piton, Amélie
Published in Biological psychiatry (1969) (01.08.2018)
Published in Biological psychiatry (1969) (01.08.2018)
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Journal Article
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation
Redin, Claire, Pavlidou, Despina Christina, Bhuiyan, Zahurul, Porretta, Alessandra Pia, Monney, Pierre, Bedoni, Nicola, Maurer, Fabienne, Sekarski, Nicole, Atallah, Isis, Émeline, Davoine, Jeanrenaud, Xavier, Pruvot, Etienne, Fellay, Jacques, Superti-Furga, Andrea
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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Journal Article
Pharmacogenomics : a toolbox to improve drug prescription
Jaccard, Evrim, Redin, Claire, Girardin, François, Waeber, Gérard, Fellay, Jacques, Vollenweider, Peter
Published in Revue médicale suisse (25.11.2020)
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Published in Revue médicale suisse (25.11.2020)
Journal Article
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie
Published in European journal of human genetics : EJHG (01.04.2017)
Published in European journal of human genetics : EJHG (01.04.2017)
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Journal Article