Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer by Forés-Martos, Jaume, Catalá-López, Ferrán, Sánchez-Valle, Jon, Ibáñez, Kristina, Tejero, Héctor, Palma-Gudiel, Helena, Climent, Joan, Pancaldi, Vera, Fañanás, Lourdes, Arango, Celso, Parellada, Mara, Baudot, Anaïs, Vogt, Daniel, Rubenstein, John L, Valencia, Alfonso, Tabarés-Seisdedos, Rafael

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions by Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A

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Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses by Ibáñez, Kristina, Boullosa, César, Tabarés-Seisdedos, Rafael, Baudot, Anaïs, Valencia, Alfonso

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A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer by Sánchez-Valle, Jon, Tejero, Héctor, Ibáñez, Kristina, Portero, José Luis, Krallinger, Martin, Al-Shahrour, Fátima, Tabarés-Seisdedos, Rafael, Baudot, Anaïs, Valencia, Alfonso

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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly by Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M, Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, Del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Dellinger, Michael T, Martinez-Glez, Victor

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study by Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study by Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats by Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F, Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C, Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A, Saunders, Christopher T, Scheffler, Konrad, van Vugt, Joke J F A, Zwamborn, Ramona R A J, Chong, Samuel S, Friedman, Jan M, Tucci, Arianna, Rehm, Heidi L, Eberle, Michael A

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CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype by Rodriguez-Laguna, Lara, Ibañez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespín, Elena, Fernández-Montaño, Victoria E, Martín-Arenas, Rubén, Del Pozo, Ángela, González-Pecellín, Héctor, Mena, Rocío, Rueda-Arenas, Inmaculada, Gomez, María V, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Ruiz-Perez, Víctor L, Nevado, Julián, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Martinez-Glez, Victor

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A computational approach inspired by simulated annealing to study the stability of protein interaction networks in cancer and neurological disorders by Ibáñez, Kristina, Guijarro, María, Pajares, Gonzalo, Valencia, Alfonso

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia by Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Wood, Nick, Hardy, John A, Smedley, Damian, Houlden, Henry, Botía, Juan, Ryten, Mina

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Genomic loci susceptible to systematic sequencing bias in clinical whole genomes by Freeman, Timothy M, Wang, Dennis, Harris, Jason

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Molecular and histologic insights on early onset cardiomyopathy in Danon disease females by Fernández, Luis, Casamayor Polo, Laura, Bravo García‐Morato, María, Enguita Valls, Ana Belén, Ruiz‐Bravo, Elena, Muñoz‐Cabello, Patricia, Ibáñez, Kristina, Rodríguez‐Laguna, Lara, Martín‐Arenas, Rubén, Ortega, Marta, Palomares‐Bralo, María, Pozo, Ángela, García‐Guereta, Luis, García‐Miñaúr, Sixto, Lapunzina, Pablo, Vallespín, Elena

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A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms by Pons, Tirso, Paramonov, Ida, Boullosa, César, Ibáñez, Kristina, Rojas, Ana M., Valencia, Alfonso

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Molecular Evidence for the Inverse Comorbidity between Central Nervous System Disorders and Cancers Detected by Transcriptomic Meta-analyses: e1004173 by Ibáñez, Kristina, Boullosa, César, Tabarés-Seisdedos, Rafael, Baudot, Anaïs, Valencia, Alfonso

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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma by Jones, Christine L, Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D, Mitchell, Tracey J, Nik-Zainal, Serena, Whittaker, Sean J

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy by Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example by Palomares-Bralo, María, Vallespín, Elena, Del Pozo, Ángela, Ibañez, Kristina, Silla, Juan Carlos, Galán, Enrique, Gordo, Gema, Martínez-Glez, Víctor, Alba-Valdivia, Lázaro I, Heath, Karen E, García-Miñaúr, Sixto, Lapunzina, Pablo, Santos-Simarro, Fernando

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A New Overgrowth Syndrome is due to Mutations in RNF125 by Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez-Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando, Guillén-Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García-Santiago, Fé, González-Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos-Simarro, Fernando, García-Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito-Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López-Granados, Eduardo, Martín-Trujillo, Alex, Montaner, David, Heath, Karen E., Campos-Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz-Pérez, Víctor L., Lapunzina, Pablo

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Deletion at 6q24.2–26 predicts longer survival of high-grade serous epithelial ovarian cancer patients by Kamieniak, Marta M., Rico, Daniel, Milne, Roger L., Muñoz-Repeto, Ivan, Ibáñez, Kristina, Grillo, Miguel A., Domingo, Samuel, Borrego, Salud, Cazorla, Alicia, García-Bueno, José M., Hernando, Susana, García-Donas, Jesús, Hernández-Agudo, Elena, y Cajal, Teresa Ramón, Robles-Díaz, Luis, Márquez-Rodas, Ivan, Cusidó, Maite, Sáez, Raquel, Lacambra-Calvet, Carmen, Osorio, Ana, Urioste, Miguel, Cigudosa, Juan C., Paz-Ares, Luis, Palacios, José, Benítez, Javier, García, María J.

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