Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant by Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo

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Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant by Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

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Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene by Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond by de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, Del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 by Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F

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A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction by Glennie, Lorraine, Solà, Marta Codina, Xunclà, Mar, Español, Gloria Aparicio, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel, Wood, Nicola T, Macartney, Thomas J, Lasa-Aranzasti, Amaia, Sapkota, Gopal P

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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders by Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, Del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon

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Provision of Genetic Services for Autism and its Impact on Spanish Families by Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara

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Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver by Engelken, Johannes, Espadas, Guadalupe, Mancuso, Francesco M, Bonet, Nuria, Scherr, Anna-Lena, Jímenez-Álvarez, Victoria, Codina-Solà, Marta, Medina-Stacey, Daniel, Spataro, Nino, Stoneking, Mark, Calafell, Francesc, Sabidó, Eduard, Bosch, Elena

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The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era by Rovira-Moreno, Eulàlia, Abulí, Anna, Muñoz-Cabello, Patricia, Codina-Sola, Marta, Baillès, Eva, de Lemus, Mencía, Darras, Basil T., Tizzano, Eduardo F.

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Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction by Casas, Guillem, Limeres, Javier, Oristrell, Gerard, Gutierrez-Garcia, Laura, Andreini, Daniele, Borregan, Mar, Larrañaga-Moreira, Jose M., Lopez-Sainz, Angela, Codina-Solà, Marta, Teixido-Tura, Gisela, Sorolla-Romero, José Antonio, Fernández-Álvarez, Paula, González-Carrillo, Josefa, Guala, Andrea, La Mura, Lucia, Soler-Fernández, Rafaela, Sao Avilés, Augusto, Santos-Mateo, Juan José, Marsal, Josep Ramon, Ribera, Aida, de la Pompa, José Luis, Villacorta, Eduardo, Jiménez-Jáimez, Juan, Ripoll-Vera, Tomás, Bayes-Genis, Antoni, Garcia-Pinilla, José Manuel, Palomino-Doza, Julián, Tiron, Coloma, Pontone, Gianluca, Bogaert, Jan, Aquaro, Giovanni D., Gimeno-Blanes, Juan Ramon, Zorio, Esther, Garcia-Pavia, Pablo, Barriales-Villa, Roberto, Evangelista, Artur, Masci, Pier Giorgio, Ferreira-González, Ignacio, Rodríguez-Palomares, José F.

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Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows by Milligan, John N, Blasco-Pérez, Laura, Costa-Roger, Mar, Codina-Solà, Marta, Tizzano, Eduardo F

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Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease by Restrepo-Vera, Juan Luis, Muñoz-Cabello, Patricia, Pérez-Rodon, Jordi, Rovira-Moreno, Eulàlia, Codina-Solà, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, García-Arumí, Elena, Juntas-Morales, Raul

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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history by Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel

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Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy by Costa-Roger, Mar, Blasco-Pérez, Laura, Gerin, Lorene, Codina-Solà, Marta, Leno-Colorado, Jordi, Gómez-García De la Banda, Marta, Garcia-Uzquiano, Rocio, Saugier-Veber, Pascale, Drunat, Séverine, Quijano-Roy, Susana, Tizzano, Eduardo F

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270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands by Abiusi, Emanuela, Costa-Roger, Mar, Bertini, Enrico Silvio, Tiziano, Francesco Danilo, Tizzano, Eduardo F., Abiusi, Dr Emanuela, Baranello, Dr Giovanni, Bertini, Prof. Enrico, Boemer, Dr François, Burghes, Prof. Arthur, Codina-Solà, Dr Marta, Costa-Roger, Dr Mar, Dangouloff, Dr Tamara, Groen, Dr Ewout, Gos, Dr Monika, Jędrzejowska, Dr Maria, Kirschner, Prof. Janbernd, Lemmink, Dr Henny H, Müller-Felber, Prof. Wolfgang, Ouillade, Ms Marie-Christine, Quijano-Roy, Prof. Susana, Rucinski, Mr Kacper, Saugier-Veber, Dr Pascale, Tiziano, Prof. Francesco Danilo, Tizzano, Prof. Eduardo Fidel, Wirth, Prof. Brunhilde

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases by Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

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Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases by Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative by Luque, Juan, Webb, Susan M., Aguado, Carmen, Almoguera, Berta, Arjona, Emi, Masó, Anna Aulinas, Badell, Isabel, Baiget, Montserrat, Benito Sanz, Sara, Borralleras, Cristina, Borrego, Salud, Bou de Pieri, Francesc, Cámara, Yolanda, Camats‐Tarruella, Núria, Cantarero, Lara, Caparrós‐Martín, JoséAntonio, Casado, Mercedes, Cascón, Alberto, Catala, Albert, Cediel, Rafael, Cervera, Javier, Contreras, Julio, Cormand, Bru, Corral, Javier, Corton, Marta, Costa‐Roger, Mar, Crispi, Fátima, Cuezva, JoséM., Dalmau, Josep, Luna, Susana, del Castillo, Ignacio, Del Pozo, Ángela, del Río, Marcela, Escámez, María José, Fernández‐Cancio, Mónica, Fernández‐San Jose, Patricia, Gallardo, Eduard, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrido, Gema, Giroud‐Gerbetant, Judith, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐Quintana, Adrián, Gort, Laura, Herreras, Enrique, Jimenez‐Mallebrera, Cecilia, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, López‐Laso, Eduardo, López de Heredia, Miguel, Lorda‐Sanchez, Isabel, Luque, Juan, Marfany, Gemma, Martí, Ramón, Martin, Yolanda, Martin‐Merida, Inmaculada, Martinez‐Delgado, Beatriz, Carmen Martínez‐Romero, María, Millán, JoséM., Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoliu, Lluis, Moreno, JoséCarlos, A Mori, María, Morte, Beatriz, Muñoz‐Pujol, Gerard, Murillo‐Cuesta, Silvia, Navarro, Susana, Navas, Plácido, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Palencia‐Campos, Adrián, Pie, Juan, Pinto, Sheila, Ranea, Juan A.G., Reina‐Castillón, Judith, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐Palmero, Agustí, Romá‐Mateo, Carlos, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Santacatterina, Fulvio, Santamarina, Marta, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Schlüter, Agatha, Tizzano, Eduardo, Tort, Frederic, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J.

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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern by Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulàlia, Ramón, Javier, Codina-Sola, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, Martí, Ramon, García-Arumí, Elena, Juntas-Morales, Raul

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