New genes involved in Angelman syndrome-like: Expanding the genetic spectrum by 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 by 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 by Pegueroles, Cinta, Laurie, Steve, Albà, M. Mar

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International standard measures during the AGBRESA bed rest study by 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 by 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 by 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] by 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 by 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 by 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 by 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 by 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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VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage by 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 by Toll-Riera, Macarena, Laurie, Steve, Albà, M Mar

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) by 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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An interconnected data infrastructure to support large-scale rare disease research by 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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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant by 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 by Laurie, Steve, Toll-Riera, Macarena, Radó-Trilla, Núria, Albà, M Mar

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Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer by Díaz-Gay, Marcos, Franch-Expósito, Sebastià, Arnau-Collell, Coral, Park, Solip, Supek, Fran, Muñoz, Jenifer, Bonjoch, Laia, Gratacós-Mulleras, Anna, Sánchez-Rojas, Paula A, Esteban-Jurado, Clara, Ocaña, Teresa, Cuatrecasas, Miriam, Vila-Casadesús, Maria, Lozano, Juan José, Parra, Genis, Laurie, Steve, Beltran, Sergi, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Balaguer, Francesc, Castellví-Bel, Sergi

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

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome by Aguilera, Cinthia, Gabau, Elisabeth, Laurie, Steve, Baena, Neus, Derdak, Sophia, Capdevila, Núria, Ramirez, Ariadna, Delgadillo, Veronica, García‐Catalan, Maria Jesus, Brun, Carme, Guitart, Miriam, Ruiz, Anna

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