XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing von Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

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A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans von 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

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Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder von 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

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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis von 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.

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome von Schaefer, Elise, Stoetzel, Corinne, Scheidecker, Sophie, Geoffroy, Véronique, Prasad, Megana K, Redin, Claire, Missotte, Isabelle, Lacombe, Didier, Mandel, Jean-Louis, Muller, Jean, Dollfus, Hélène

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes von 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

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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome von 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

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Prevalence of actionable pharmacogenetic variants and high‐risk drug prescriptions: A Swiss hospital‐based cohort study von Hodel, Flavia, De Min, Maria B., Thorball, Christian Wandall, Redin, Claire, Vollenweider, Peter, Girardin, François, Fellay, Jacques

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A von 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

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis von 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

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VaRank: a simple and powerful tool for ranking genetic variants von Geoffroy, Véronique, Pizot, Cécile, Redin, Claire, Piton, Amélie, Vasli, Nasim, Stoetzel, Corinne, Blavier, André, Laporte, Jocelyn, Muller, Jean

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Host genomics of SARS-CoV-2 infection von Redin, Claire, Thorball, Christian W, Fellay, Jacques

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A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection von Casanova, Jean-Laurent, Su, Helen C., Abel, Laurent, Aiuti, Alessandro, Almuhsen, Saleh, Arias, Andres Augusto, Bastard, Paul, Biggs, Catherine, Bogunovic, Dusan, Boisson, Bertrand, Boisson-Dupuis, Stephanie, Bolze, Alexandre, Bondarenko, Anastasia, Bousfiha, Aziz, Brodin, Petter, Bustamante, Jacinta, Butte, Manish, Casari, Giorgio, Ciancanelli, Michael, Cobat, Aurelie, Condino-Neto, Antonio, Cooper, Megan, Dalgard, Clifton, Espinosa, Sara, Feldman, Hagit, Fellay, Jacques, Franco, Jose Luis, Hagin, David, Itan, Yuval, Jouanguy, Emmanuelle, Lucas, Carrie, Mansouri, Davood, Meyts, Isabelle, Milner, Joshua, Mogensen, Trine, Morio, Tomohiro, Ng, Lisa, Notarangelo, Luigi D., Okada, Satoshi, Ozcelik, Tayfun, Soler Palacín, Pere, Planas, Anna, Prando, Carolina, Puel, Anne, Pujol, Aurora, Redin, Claire, Renia, Laurent, Rodriguez Gallego, Jose Carlos, Quintana-Murci, Lluis, Sancho-Shimizu, Vanessa, Sankaran, Vijay, Seppänen, Mikko R.J., Shahrooei, Mohammad, Snow, Andrew, Spaan, András, Tangye, Stuart, Tur, Jordi Perez, Turvey, Stuart, Vinh, Donald C., von Bernuth, Horst, Wang, Xiaochuan, Zawadzki, Pawel, Zhang, Qian, Zhang, Shenying

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Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study von 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

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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models von 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.

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DPY19L2 Deletion as a Major Cause of Globozoospermia von 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

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome von 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

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Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutations: Delineation and Genotype-Phenotype Correlation Study von Renaud, Mathilde, Anheim, Mathieu, Kamsteeg, Erik-Jan, Mallaret, Martial, Mochel, Fanny, Vermeer, Sascha, Drouot, Nathalie, Pouget, Jean, Redin, Claire, Salort-Campana, Emmanuelle, Kremer, Hubertus P. H, Verschuuren-Bemelmans, Corien C, Muller, Jean, Scheffer, Hans, Durr, Alexandra, Tranchant, Christine, Koenig, Michel

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Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder von 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

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The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation von 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

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