Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Authors: Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, Roscioli, Tony

Source: In Genetics in Medicine May 2024 26(5)

CDKL5 Deficiency Disorder Without Epilepsy

Authors: Aznar-Laín, Gemma, Fernández-Mayoralas, Daniel M., Caicoya, Anne G., Rocamora, Rodrigo, Pérez-Jurado, Luis A.

Source: Pediatric neurology. 144:84-89

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192212582.0x000001&indx=1&recIds=ETOCvdc_100192212582.0x000001

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Authors: Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis A.

Source: In Genetics in Medicine December 2022 24(12):2475-2486

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Authors: Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.

Source: In Genetics in Medicine November 2022 24(11):2351-2366

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Authors: Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R., Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A., Beltran, Sergi

Source: Journal of molecular diagnostics. 24(5):529-542

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165197766.0x000001&indx=1&recIds=ETOCvdc_100165197766.0x000001

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Authors: Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi

Source: Human mutation. 43(6):717-733

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151083826.0x000001&indx=1&recIds=ETOCvdc_100151083826.0x000001

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Authors: Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, López de Heredia, Miguel, Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pía, Artuch, Rafael, Fillat, Cristina, Pérez‐Jurado, Luis A., Montoliu, Lluis, Carracedo, Ángel, Millán, José M., Webb, Susan M., Palau, Francesc, Aguado, Carmen, Aguado, Cristina, Aguilera, Paula, Albiñana, Virginia, Alías, Laura, Almoguera, Berta, Alonso, Javier, Alonso‐Ferreira, Verónica, Alvarez‐Mora, María Isabel, Antiñolo, Guillermo, Arbones, María L., Arenas, Joaquín, Arjona, Emi, Armangue, Thais, Armstrong, Judith, Arnedo, María, Masó, Anna Aulinas, Avila‐Fernandez, Almudena, Ayuso, Carmen, Badell, Isabel, Badenas, Celia, Baeza, María L., Baiget, Montserrat, Balcells, Susanna, Ballesta‐Martínez, María Juliana, Barahona, María‐José, Barros, Francisco, Bartoccioni, Paola Chiara, Pilar Bayona‐Bafaluy, M., Benito Sanz, Sara, Bernabéu, Carmelo, Bernal, Sara, Blanco‐Kelly, Fiona, Blázquez, Alberto, Bodoy, Susanna, Bogliolo, Massimo, Borralleras, Cristina, Borrego, Salud, Botella, Luisa M., Bou de Pieri, Francesc, Bovolenta, Paola, Bravo‐Gil, Nereida, Brea, Alejandro, Bueno‐Lozano, Gloria, Bustamante, Ana, Caballero, Teresa, Camacho‐Macorra, Carlos, Cámara, Yolanda, Camats‐Tarruella, Núria, Campos Barros, Ángel, Campuzano, Victoria, Cantarero, Lara, Cantó, Judith, Caparrós‐Martín, JoséAntonio, Cardellach, Francesc, Carmona, Rosario, Carrera, Cristina, Carretero, Marta, Casado, Mercedes, Casado, JoséAntonio, Casasnovas, Carlos, Cascón, Alberto, Casino, Patricia, Castaño, Luis, Castilla‐Vallmanya, Laura, Catala, Albert, Luisa Cayuela, María, Cediel, Rafael, Cervera, Javier, Codina‐Solà, Marta, Contreras, Julio, Cormand, Bru, Corominas, Roser, Corral, Javier, Cortés‐Rodríguez, Ana, Corton, Marta, Costa‐Roger, Mar, Cozar, Mónica, Crespo, Iris, Crispi, Fátima, Cruz, Raquel, Cuezva, JoséM., Cuscó, Ivon, Dalmau, Josep, Cima, Sergio, Luna, Susana, Luna, NoemíDe, Oyarzabal Sanz, Alfonso, del Campo, Miguel, del Castillo, Ignacio, Del Pino Molina, Lucía, Del Pozo, Ángela, del Río, Marcela, Delmiro, Aitor, Desviat, Lourdes R., Dierssen, Mara, Domínguez‐González, Cristina, Domínguez‐Ruiz, María, Dopazo, Joaquín, Errasti, Ekaitz, Escámez, María José, Cristina Estañ, Maria, Esteban, Jesús, Estévez, Raúl, Ezquieta, Begoña, Fernández, Luis, Fernández, Almudena, Fernández‐Cancio, Mónica, Fernàndez‐Castillo, Noèlia, Fernández‐San Jose, Patricia, Fons, Carmen, Fort, Joana, Fourcade, Stéphane, Fraga, Mario F., Gallardo, Eduard, García, Marta, García‐Arumí, Elena, García‐Bravo, María, García‐Cazorla, Angels, García‐Consuegra, Inés, Garcia‐Garcia, Francesc Josep, García‐García, Gema, García‐Giménez, JoséLuis, Garcia‐Gimeno, María Adelaida, García‐Miñaur, Sixto, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrabou, Gloria, Garrido, Gema, Garrido‐Pérez, Nuria, Gaztambide, Sonia, Gil‐Campos, Mercedes, Giroud‐Gerbetant, Judith, Glover, Guillermo, Gómez‐Puertas, Paulino, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐del Pozo, María, González‐Quereda, Lidia, González‐Quintana, Adrián, Gort, Laura, Gougeard, Nadine, Gratacos, Eduard, María Grau, Josep, Grinberg, Daniel, Güenechea, Guillermo, Guerrero, Rosa, Guillén‐Navarro, Encarna, Guitart‐Mampel, Mariona, Gutiérrez‐Arumí, Armand, Heath, Karen, Heredia, Miguel, Hernández‐Chico, Concepción, Hoenicka, Janet, Homs, Aïda, Andrés Jimenez‐Estrada, Juan, Jimenez‐Mallebrera, Cecilia, Jou, Cristina, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, Larcher, Fernando, Lasa, Adriana, Lassaletta, Luis, Latorre‐Pellicer, Ana, Linares, Daniel, Llacer, JoséLuis, Llames, Sara, Lopez‐Gallardo, Ester, López‐Laso, Eduardo, López‐Lera, Alberto, Lopez‐Lopez, Daniel, López‐Sánchez, Marcos, López Granados, Eduardo, Lorda‐Sanchez, Isabel, Luisa Lozano, María, Madrigal, Irene, Malvehy, Josep, Manguán García, Cristina, Mansilla, Elena, Marco‐Marín, Clara, Marfany, Gemma, Marina, Alberto, Martí, Ramón, Martí, Salvador, Martin, Yolanda, Martín, Miguel A., Martín‐Hernandez., Elena, Martin‐Merida, Inmaculada, Martínez, Rosa, Martínez‐Azorín, Francisco, Martinez‐Delgado, Beatriz, Martínez‐Gil, Núria, Martínez‐Glez, Víctor M., Martínez‐Momblán, M.A., Carmen Martínez‐Romero, María, Martínez Fernández, Pilar, Martínez Santamaría, Lucía, Martorell, Loreto, Meade, Patricia, Meana, Álvaro, Ángel Medina, Miguel, Medrano, Andrés, Méndez‐Vidal, Cristina, Millán, JoséM., Minguez, Pablo, Minguillón, Jordi, Mirra, Serena, Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoya, Julio, Morán, María, Moren, Constanza, Moreno, Mireia, Moreno, JoséCarlos, Moreno‐Galdó, Antonio, Ángel Moreno‐Pelayo, Miguel, A Mori, María, Morin, Matías, Mulero, Victoriano, Muñoz‐Pujol, Gerard, Murillas, Rodolfo, Murillo‐Cuesta, Silvia, Nascimento, Andrés, Navarro, Susana, Navas, Plácido, Nevado, Julián, Nicolas, Adrià, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Páez, David, Palacín, Manuel, Gabriela Palacios‐Verdú, M., Palencia‐Campos, Adrián, Pallardó, Federico V., Palomares, María, Peña‐Chilet, María, Pérez, Belén, Perez‐Florido, Javier, Pérez‐García, Débora, Perez‐Jimenez, Eva, Perkins, James R., Perona, Rosario, Pie, Juan, Pinós, Tomàs, Pinto, Sheila, Potrony, Miriam, Puig, Susana, Antón Puig‐Butille, Joan, Puisac, Beatriz, Pujol, Roser, Pujol, Aurora, Quintana, Óscar, Rabionet, Raquel, JoséRamírez de Haro, María, Ramos, Feliciano J., Ranea, Juan A.G., Reina‐Castillón, Judith, Resmini, Eugenia, Ribes, Antonia, Rica, Itxaso, Richard, Eva, Riera, Pau, Río, Paula, Riveiro‐Alvarez, Rosa, Rivera, José, Rivera‐Barahona, Ana, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐de la Rosa, Lourdes, Rodríguez‐Palmero, Agustí, Rodriguez‐Pombo, Pilar, Rodriguez‐Revenga, Laia, Rodríguez‐Santiago, Benjamín, Rodríguez‐Sureda, Víctor, Rodríguez de Alba, Marta, Rodríguez de Cordoba, Santiago, Romá‐Mateo, Carlos, Rubio, Vicente, Ruiz, Ángela, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Luis Ruiz‐Perez, Victor, Ruiz‐Pesini, Eduardo, Ruiz‐Ponte, Clara, Rullo, Josep, Sabater, Lidia, Salazar, Juliana, Salido, Eduardo, Sanchez‐Jimeno, Carolina, María Sánchez Cuesta, Ana, JoséSánchez Soler, María, Santacatterina, Fulvio, Santamarina, Marta, Santos, Alicia, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Sanz, Pascual, Sastre, Leandro, Schlüter, Agatha, Segovia, JoséCarlos, Segura‐Puimedon, María, Seoane, Pedro, Serra‐Juhe, Clara, Serrano, Mercedes, Serratosa, JoséM., Sevilla, Teresa, Surrallés, Jordi, Tahsin‐Swafiri, Saoud, Tell‐Martí, Gemma, Antonio Tenorio‐Castaño, Jair, Tizzano, Eduardo, Tobias, Ester, Tort, Frederic, Trujillano, Laura, JoséTrujillo‐Tiebas, María, Ugalde, Cristina, Ugarteburu, Olatz, Urreizti, Roser, Urrutia, Inés, Valencia, María, Vallcorba, Patricia, Vallespín, Elena, Varela‐Nieto, Isabel, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J., Villa, Olaya, Villamar, Manuela, Zubeldia, JoséManuel, Zurita, Olga

Source: Clinical genetics. 101(5-6):481-493

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149766154.0x000001&indx=1&recIds=ETOCvdc_100149766154.0x000001

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Authors: Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A., Gutiérrez-Solana, Luis G., López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora

Source: Neurology. 98(9):e912-e923

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100145370872.0x000001&indx=1&recIds=ETOCvdc_100145370872.0x000001

Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions

Authors: Ovejero, Diana, Garcia-Giralt, Natalia, Martínez-Gil, Núria, Rabionet, Raquel, Balcells, Susanna, Grinberg, Daniel, Pérez-Jurado, Luis Alberto, Nogués, Xavier, Etxebarria-Foronda, Iñigo

Source: In Bone August 2022 161

Defective X-chromosome inactivation and cancer risk in women.

Authors: Cáceres, Alejandro^1,2 (AUTHOR) alejandro.caceres@isglobal.org, Pérez-Jurado, Luis A.^3,4,5 (AUTHOR), Alegret-García, Albert^1,2 (AUTHOR), Dwaraka, Varun B.⁶ (AUTHOR), Smith, Ryan⁶ (AUTHOR), González, Juan R.^1,2 (AUTHOR)

Source: Communications Biology. 2/22/2025, Vol. 8 Issue 1, p1-13. 13p.

Subject Terms: *MEDICAL sciences, *TRIPLE-negative breast cancer, *SOMATIC mutation, *LIFE sciences, *GENETICS

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Authors: Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, Nascimento, Andrés, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Nel.lo, Anna Ruiz, Martínez-Monseny, Antonio, Sànchez, Aurora, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, de Benito, Daniel Natera, Amador, Daniel Picó, Gómez-Andrés, David, Yubero, Dèlia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Díaz-Manera, Jordi, Milisenda, José César, a<%2Fce%3Asup>+Grau%2C+Josep%22">Mhttp://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131839459.0x000001&indx=1&recIds=ETOCvdc_100131839459.0x000001

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Authors: Lucia-Campos, Cristina, Parenti, Ilaria, Latorre-Pellicer, Ana, Gil-Salvador, Marta, Bestetti, Ilaria, Finelli, Palma, Larizza, Lidia, Arnedo, María, Ayerza-Casas, Ariadna, Del Rincón, Julia, Trujillano, Laura, Morte, Beatriz, Pérez-Jurado, Luis A., Lapunzina, Pablo, Leitão, Elsa, Beygo, Jasmin, Lich, Christina, Kilpert, Fabian, Kaya, Sabine, Depienne, Christel

Source: Frontiers in Genetics; 2024, p1-15, 15p

Subject Terms: COMPARATIVE genomic hybridization, DIZYGOTIC twins, MOLECULAR diagnosis, GENE expression, CONGENITAL disorders

A six-attribute classification of geneticmosaicism

Authors: Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Ruiz Pérez, Víctor L., Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo

Source: In Genetics in Medicine November 2020 22(11):1743-1757

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Authors: Renieri, Alessandra, Dursun, Ali, Matilla-Duenas, Antoni, Cormand, Bru, Rivolta, Carlo, Ayuso, Carmen, Espinós, Carmen, Scerri, Christian, Yalnizoglu, Dilek, Soler, Doriette, Morava, Eva, Barbetti, Fabrizio, Forzano, Francesca, Mari, Francesca, Muntoni, Francesco, Tort, Frederic, Houlden, Henry James, Tejada, Maria-Isabel, Senderek, Jan, Benitez, Javier, De La Calle, Javier Corral, Serra, Jordi, Millán, José Ma, Segovia, Jose, Gimeno Blanes, Juan Ramon, Armstrong, Judith, Ozgul, Koksal, Vilarinho, Laura, Montoliu, Lluis, Posada, Manuel, Mencarelli, Maria Antonietta, Mora, Marina, Bianchi, Paola, Seeman, Pavel, Elliott, Perry M., Ferlini, Alessandra, Brice, Alexis, Wirth, Brunhilde, Hanna, Mike, Tabrizi, Sarah, Klockgether, Thomas, Timmerman, Vincent, Straub, Volker, Kurul, Semra Hiz, Oktay, Yavuz, Gungor, Serdal, Yaramis, Ahmet, Yis, Uluc, Macaya, Alfons, Ribes, Antonia, Pujol, Aurora, Lázaro, Conxi, Grinberg, Daniel, Tizzano, Eduardo, Cardellach, Francesc, Palau, Francesc, Milà, Montse, Gallano, Pia, Artuch, Rafael, MartiSeves, Ramon, Villanueva, Gonzalo, Vidal, Silvia, Garrabou, Gloria, Balcells, Susanna, Urreizti, Roser, López, Estrella, Cuscó, Ivon, Valenzuela, Irene, Sabater, Maria, Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi

Source: In The Journal of Molecular Diagnostics September 2020 22(9):1205-1215

Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases

Authors: González, Juan R., Ruiz-Arenas, Carlos, Cáceres, Alejandro, Morán, Ignasi, López-Sánchez, Marcos, Alonso, Lorena, Tolosana, Ignacio, Guindo-Martínez, Marta, Mercader, Josep M., Esko, Tonu, Torrents, David, González, Josefa, Pérez-Jurado, Luis A.

Source: In The American Journal of Human Genetics 4 June 2020 106(6):846-858

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Authors: Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, Jolly, Lachlan A.

Source: In Biological Psychiatry 15 January 2020 87(2):100-112

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings

Authors: Martín-Rivada, Álvaro, Pozo-Román, Jesús, Güemes, María, Ortiz-Cabrera, Nelmar Valentina, Pérez-Jurado, Luis A., Argente, Jesús

Source: Hormone research in pædiatrics. 93(9/10):567-572

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119448398.0x000001&indx=1&recIds=ETOCvdc_100119448398.0x000001

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Authors: Matalonga, Leslie, Laurie, Steven, Papakonstantinou, Anastasios, Piscia, Davide, Mereu, Elisabetta, Bullich, Gemma, Thompson, Rachel, Horvath, Rita, Pérez-Jurado, Luis, Riess, Olaf, Gut, Ivo, van Ommen, Gert-Jan, Lochmüller, Hanns, Beltran, Sergi

Source: Journal of molecular diagnostics. 22(9):1205-1215

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117694941.0x000001&indx=1&recIds=ETOCvdc_100117694941.0x000001