New genes involved in Angelman syndrome-like: Expanding the genetic spectrum von Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna

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International standard measures during the VaPER bed rest study von Clément, Gilles R., Crucian, Brian E., Downs, Meghan, Krieger, Stephanie, Laurie, Steve S., Lee, Stuart M.C., Mulder, Edwin, Roma, Peter G., Sibonga, Jean D., Smith, Scott M., Stenger, Michael B., Wood, Scott J., Zwart, Sara R.

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Accelerated Evolution after Gene Duplication: A Time-Dependent Process Affecting Just One Copy von Pegueroles, Cinta, Laurie, Steve, Albà, M. Mar

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International standard measures during the AGBRESA bed rest study von Clément, Gilles R., Crucian, Brian E., Downs, Meghan, Krieger, Stephanie, Laurie, Steve S., Lee, Stuart M.C., Macias, Brandon R., Mulder, Edwin, Rivas, Eric, Roma, Peter G., Rosenberg, Marissa J., Sibonga, Jean D., Smith, Scott M., Spector, Elisabeth R., Whiting, Sara E., Wood, Scott J., Zwart, Sara R.

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Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer von São José, Celina, Garcia-Pelaez, José, Ferreira, Marta, Arrieta, Oscar, André, Ana, Martins, Nelson, Solís, Samantha, Martínez-Benítez, Braulio, Ordóñez-Sánchez, María Luisa, Rodríguez-Torres, Maribel, Sommer, Anna K., te Paske, Iris B. A. W., Caldas, Carlos, Tischkowitz, Marc, Tusié, Maria Teresa, Hoogerbrugge, Nicoline, Demidov, German, de Voer, Richarda M., Laurie, Steve, Oliveira, Carla

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Improving genome-wide scans of positive selection by using protein isoforms of similar length von Villanueva-Cañas, José Luis, Laurie, Steve, Albà, M Mar

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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved] von Salgado, David, Armean, Irina M, Baudis, Michael, Beltran, Sergi, Capella-Gutierrez, Salvador, Carvalho-Silva, Denise, Dominguez Del Angel, Victoria, Dopazo, Joaquin, Furlong, Laura I, Gao, Bo, Garcia, Leyla, Gerloff, Dietlind, Gut, Ivo, Gyenesei, Attila, Habermann, Nina, Hancock, John M, Hanauer, Marc, Hovig, Eivind, Johansson, Lennart F, Keane, Thomas, Korbel, Jan, Lauer, Katharina B, Laurie, Steve, Leskošek, Brane, Lloyd, David, Marques-Bonet, Tomas, Mei, Hailiang, Monostory, Katalin, Piñero, Janet, Poterlowicz, Krzysztof, Rath, Ana, Samarakoon, Pubudu, Sanz, Ferran, Saunders, Gary, Sie, Daoud, Swertz, Morris A, Tsukanov, Kirill, Valencia, Alfonso, Vidak, Marko, Yenyxe González, Cristina, Ylstra, Bauke, Béroud, Christophe

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Accelerated evolution after gene duplication: a time-dependent process affecting just one copy von Pegueroles, Cinta, Laurie, Steve, Albà, M Mar

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Cardiovascular responses to daily use of lower body negative pressure during 30 days of strict head-down tilt bedrest von Lytle, Jason, Laurie, Steve, Marshall-Goebel, Karina, Lee, Stuart, Miller, Annelise, Martin, David, Young, Millennia, Macias, Brandon

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Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion von McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita

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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort von Polavarapu, Kiran, Sunitha, Balaraju, Töpf, Ana, Preethish-Kumar, Veeramani, Thompson, Rachel, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Sanka, Sai Bhargava, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Arunachal, Gautham, Girija, Manu Santhappan, Porter, Anna, Azuma, Yoshiteru, Lorenzoni, Paulo José, Baskar, Dipti, Anjanappa, Ram Murthy, Keertipriya, Madassu, Padmanabh, Hansashree, Harikrishna, Ganaraja Valakunja, Laurie, Steve, Matalonga, Leslie, Horvath, Rita, Nalini, Atchayaram, Lochmüller, Hanns

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From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing von Laurie, Steve, Fernandez-Callejo, Marcos, Marco-Sola, Santiago, Trotta, Jean-Remi, Camps, Jordi, Chacón, Alejandro, Espinosa, Antonio, Gut, Marta, Gut, Ivo, Heath, Simon, Beltran, Sergi

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VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage von Musacchia, Francesco, Karali, Marianthi, Torella, Annalaura, Laurie, Steve, Policastro, Valeria, Pizzo, Mariateresa, Beltran, Sergi, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro

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Lineage-specific variation in intensity of natural selection in mammals von Toll-Riera, Macarena, Laurie, Steve, Albà, M Mar

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martinez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denomme-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michel A. A. P, de Vries, Bert B. A, Vitobello, Antonio, Kleefstra, Tjitske, Vissers, Lisenka E. L. M, Solve-RD SNV-indel Working Grp, [missing], Solve-RD-DITF-ITHACA, [missing]

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An interconnected data infrastructure to support large-scale rare disease research von Johansson, Lennart F, Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephan, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, van der Velde, K Joeri, Veal, Colin, van der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral Juan, Marc, Casquero, Pilar, Giraldo Restrepo, Natalia, Laurie, Steve, Martinez Piñeiro, Alicia, Mateo Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez Ramo, Ramiro, Sánchez, Ivelisse, Matilla Dueñas, Antoni

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina

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Sequence shortening in the rodent ancestor von Laurie, Steve, Toll-Riera, Macarena, Radó-Trilla, Núria, Albà, M Mar

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