TitleDateAuthorsDOI
Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis2025-02-21Cantó-Santos, J; Valls-Roca, L; Tobías, E; García-García, FJ; Guitart-Mampel, M; Andújar-Sánchez, F; Vilaseca-Capel, A; Esteve-Codina, A; Martín-Mur, B; Padrosa, J; Peruga, E; Madrigal, I; Segalés, P; García-Ruiz, C; Fernández-Checa, JC; Moreno-Lozano, PJ; O'Callaghan, AS; Sevilla, A; Milisenda, JC; Garrabou, Ghttps://doi.org/10.1186/s40478-025-01933-0
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome2025-02-13Della Marina, A; Koutsoulidou, A; Benito, DND; Tykocinski, LO; Tomazou, M; Georgiou, K; Laner, A; Koelbel, H; Nascimento, A; Ortez, C; Abicht, A; Thakur, BK; Lochmüller, H; Phylactou, LA; Ruck, T; Schara-Schmidt, U; Kale, D; Hentschel, A; Roos, Ahttps://doi.org/10.1186/s40478-025-01946-9
Chromosome-Level Genome Assembly and Annotation of Corallium rubrum: A Mediterranean Coral Threatened by Overharvesting and Climate Change2025-02-07Ledoux, JB; Gomez-Garrido, J; Cruz, F; Ferreira, FC; Matos, A; Sarropoulou, X; Ramirez-Calero, S; Aurelle, D; Lopez-Sendino, P; Grayson, NE; Moore, BS; Antunes, A; Aguilera, L; Gut, M; Salces-Ortiz, J; Fernández, R; Linares, C; Garrabou, J; Alioto, Thttps://doi.org/10.1093/gbe/evae253
TOP2A inhibition and its cellular effects related to cell cycle checkpoint adaptation pathway2025-01-30López, MCA; Fernández-Mimbrera, MA; Gollini, E; Esteve-Codina, A; Sánchez, A; Ortega, JAMhttps://doi.org/10.1038/s41598-025-87895-8
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador2025-01-17Llargués-Sistac, G; Bonjoch, L; Munoz, J; Dominguez-Rovira, X; Ocaña, T; Alvarez-Mora, MI; Badenas, C; Esteve-Codina, A; Reyes-Silva, C; Jaramillo-Koupermann, G; Rodrigo, MT; López-Prades, S; Cuatrecasas, M; Castells, A; Balaguer, F; Moreira, L; Fernandez, G; Castellví-Bel, Shttps://doi.org/10.1038/s41525-025-00462-y
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses2025-01-17Laurie S; Steyaert W; de Boer E; Polavarapu K; Schuermans N; Sommer AK; Demidov G; Ellwanger K; Paramonov I; Thomas C; Aretz S; Baets J; Benetti E; Bullich G; Chinnery PF; Clayton-Smith J; Cohen E; Danis D; de Sainte Agathe J-M; Denommé-Pichon A-S; Diaz-Manera J; Efthymiou S; Faivre L; Fernandez-Callejo M; Freeberg M; Garcia-Pelaez J; Guillot-Noel L; Haack TB; Hanna M; Hengel H; Horvath R; Houlden H; Jackson A; Johansson L; Johari M; Kamsteeg E-J; Kellner M; Kleefstra T; Lacombe D; Lochmüller H; López-Martín E; Macaya A; Marcé-Grau A; Maver A; Morsy H; Muntoni F; Musacchia F; Nelson I; Nigro V; Olimpio C; Oliveira C; Paulasová Schwabová J; Pauly MG; Peterlin B; Peters S; Pfundt R; Piluso G; Piscia D; Posada M; Reich S; Renieri A; Ryba L; Šablauskas K; Savarese M; Schöls L; Schütz L; Steinke-Lange V; Stevanin G; Straub V; Sturm M; Swertz MA; Tartaglia M; te Paske IBAW; Thompson R; Torella A; Trainor C; Udd B; Van de Vondel L; van de Warrenburg B; van Reeuwijk J; Vandrovcova J; Vitobello A; Vos J; Vyhnálková E; Wijngaard R; Wilke C; William D; Xu J; Yaldiz B; Zalatnai L; Zurek B; de Voer RM; Vissers LELM; Brookes AJ; Evangelista T; Gilissen C; Graessner H; Hoogerbrugge N; Ossowski S; Riess O; Schüle R; Synofzik M; Verloes A; Matalonga L; Brunner HG; Lohmann K; Töpf A; Beltran S; Hoischen Ahttps://doi.org/10.1038/s41591-024-03420-w
Local genetic adaptation to habitat in wild chimpanzees2025-01-10Ostridge, HJ; Fontsere, C; Lizano, E; Soto, DC; Schmidt, JM; Saxena, V; Alvarez-Estape, M; Barratt, CD; Gratton, P; Bocksberger, G; Lester, JD; Dieguez, P; Agbor, A; Angedakin, S; Assumang, AK; Bailey, E; Barubiyo, D; Bessone, M; Brazzola, G; Chancellor, R; Cohen, H; Coupland, C; Danquah, E; Deschner, T; Dotras, L; Dupain, J; Egbe, VE; Granjon, AC; Head, J; Hedwig, D; Hermans, V; Hernandez-Aguilar, RA; Jeffery, KJ; Jones, S; Junker, J; Kadam, P; Kaiser, M; Kalan, AK; Kambere, M; Kienast, I; Kujirakwinja, D; Langergraber, KE; Lapuente, J; Larson, B; Laudisoit, A; Lee, KC; Llana, M; Maretti, G; Martín, R; Meier, AC; Morgan, D; Neil, E; Nicholl, S; Nixon, S; Normand, E; Orbell, C; Ormsby, LJ; Orume, R; Pacheco, L; Preece, J; Regnaut, S; Robbins, MM; Rundus, A; Sanz, C; Sciaky, L; Sommer, V; Stewart, FA; Tagg, N; Tédonzong, LR; van Schijndel, J; Vendras, E; Wessling, EG; Willie, J; Wittig, RM; Yuh, YG; Yurkiw, K; Vigilant, L; Piel, AK; Boesch, C; Kuhl, HS; Dennis, MY; Marques-Bonet, T; Arandjelovic, M; Andrés, AMhttps://doi.org/10.1126/science.adn7954
Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar2025-01-01Orkin, JD; Kuderna, LFK; Hermosilla-Albala, N; Fontsere, C; Aylward, ML; Janiak, MC; Andriaholinirina, N; Balaresque, P; Blair, ME; Fausser, JL; Gut, IG; Gut, M; Hahn, MW; Harris, RA; Horvath, JE; Keyser, C; Kitchener, AC; Le, MD; Lizano, E; Merker, S; Nadler, T; Perry, GH; Rabarivola, CJ; Rasmussen, L; Raveendran, M; Roos, C; Wu, DD; Zaramody, A; Zhang, GJ; Zinner, D; Pozzi, L; Rogers, J; Farh, KKH; Bonet, TMhttps://doi.org/10.1038/s41559-024-02596-1
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing2025-01-01Steyaert W; Sagath L; Demidov G; Yépez VA; Esteve-Codina A; Gagneur J; Ellwanger K; Derks R; Weiss M; den Ouden A; van den Heuvel S; Swinkels H; Zomer N; Steehouwer M; O’Gorman L; Astuti G; Neveling K; Schüle R; Xu J; Synofzik M; Beijer D; Hengel H; Schöls L; Claeys KG; Baets J; Van de Vondel L; Ferlini A; Selvatici R; Morsy H; Elmaksoud MSA; Straub V; Müller J; Pini V; Perry L; Sarkozy A; Zaharieva I; Muntoni F; Bugiardini E; Polavarapu K; Horvath R; Reid E; Lochmüller H; Spinazzi M; Savarese M; Laurie S; Brunner HG; Graessner H; Beltran S; Ossowski S; Vissers LELM; Gilissen C; Hoischen A; Matalonga Lhttps://doi.org/10.1101/gr.279414.124
Differential performance of strategies for single-cell whole-genome amplification2025-01-01Estévez-Gómez N; Prieto T; Tomás L; Alvariño P; Guillaumet-Adkins A; Heyn H; Prado-López S; Posada Dhttps://doi.org/10.1016/j.crmeth.2025.101025
Inferring DNA methylation in non-skeletal tissues of ancient specimens2025-01-01Mathov, Y; Nissim-Rafinia, M; Leibson, C; Galun, N; Marques-Bonet, T; Kandel, A; Liebergal, M; Meshorer, E; Carmel, Lhttps://doi.org/10.1038/s41559-024-02571-w
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome2025-01-01Falabella, M; Pizzamiglio, C; Tabara, LC; Munro, B; Abdel-Hamid, MS; Sonmezler, E; Macken, WL; Lu, ST; Tilokani, L; Flannery, PJ; Patel, N; Pope, SAS; Heales, SJR; Hammadi, DBH; Alston, CL; Taylor, RW; Lochmuller, H; Woodward, CE; Labrum, R; Vandrovcova, J; Houlden, H; Chronopoulou, E; Pierre, G; Maroofian, R; Hanna, MG; Taanman, JW; Hiz, S; Oktay, Y; Zaki, MS; Horvath, R; Prudent, J; Pitceathly, RDShttps://doi.org/10.1093/brain/awae268
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.2025-01-01Rawlins LE; Maroofian R; Cannon SJ; Daana M; Zamani M; Ghani S; Leslie JS; Ubeyratna N; Khan N; Khan H; Scardamaglia A; Cloarec R; Khan SA; Umair M; Sadeghian S; Galehdari H; Al-Maawali A; Al-Kindi A; Azizimalamiri R; Shariati G; Ahmad F; Al-Futaisi A; Rodriguez Cruz PM; Salazar-Villacorta A; Ndiaye M; Diop AG; Sedaghat A; Saberi A; Hamid M; Zaki MS; Vona B; Owrang D; Alhashem AM; Obeid M; Khan A; Beydoun A; Najjar M; Tajsharghi H; Zifarelli G; Bauer P; Hakami WS; Al Hashem AM; Boustany R-MN; Burglen L; Alavi S; Gunning AC; Owens M; Karimiani EG; Gleeson JG; Milh M; Salah S; Khan J; Haucke V; Wright CF; McGavin L; Elpeleg O; Shabbir MI; Houlden H; Ebner M; Baple EL; Crosby AHhttps://doi.org/10.1016/j.gim.2024.101278
Multikinase Treatment of Glioblastoma: Evaluating the Rationale for Regorafenib2025-01-01Muñoz-Mármol AM; Meléndez B; Hernandez A; Sanz C; Domenech M; Arpí-Llucia O; Gut M; Esteve A; Esteve-Codina A; Parra G; Carrato C; Aldecoa I; Mallo M; Pineda E; Alameda F; de la Iglesia N; Martinez-Balibrea E; Martinez-Cardús A; Estival-Gonzalez A; Balana Chttps://doi.org/10.3390/cancers17030375
European ILD registry algorithm for self-assessment in interstitial lung diseases (eurILDreg ASA-ILD)2025-01-01Krauss E; Claas LH; Tello S; Naumann J; Wobisch S; Kuhn S; Majeed RW; Moor K; Molina-Molina M; Byrne O; Borton R; Wijsenbeek MS; Hirani N; Vancheri C; Crestani B; Guenther A; Mahavadi P; Ruppert C; Bonniaud P; Wells A; Walsh S; Griese M; Borie R; Kannengiesser C; Wuyts W; Eils R; Gut IG; Haick H; Broza YY; Brun V; Behr J; Drakopanagiotakis F; Bastos HN; Poletti V; Ravaglia C; Hurley Khttps://doi.org/10.1371/journal.pone.0316484
Sensory neuropathy in patients with Pompe disease: a case series in Iran2024-12-27Babaee, M; Rahmati, M; Dehdahsi, S; Lochmuller, H; Bahrami, MH; Zeinali, V; Rayegani, SMhttps://doi.org/10.1186/s12891-024-08220-4
Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond2024-12-04Leist, IC; Rivas-Torrubia, M; Alarcón-Riquelme, ME; Barturen, G; Gut, IG; Rueda, Mhttps://doi.org/10.1186/s12859-024-05993-2
The PpPep2-Triggered PTI-like Response in Peach Trees Is Mediated by miRNAs2024-12-01Foix, L; Pla, M; Martín-Mur, B; Esteve-Codina, A; Nadal, Ahttps://doi.org/10.3390/ijms252313099
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes2024-12-01Neuhoff, K; Kilicarslan, OA; Preusse, C; Zaum, AK; Kölbel, H; Lochmüller, H; Schara-Schmidt, U; Polavarapu, K; Roos, A; Gangfuss, Ahttps://doi.org/10.3390/biomedicines12122738
Proceedings of the 5th Meeting of Translational Hepatology, organized by the Spanish Association for the Study of the Liver (AEEH)2024-12-01Alvarado-Tapias, E; Maya-Miles, D; Albillos, A; Aller, R; Ampuero, J; Andrade, RJ; Arechederra, M; Aspichueta, P; Banales, JM; Blas-Garcia, A; Caparros, E; Delgado, TC; Carrillo-Vico, A; Claria, J; Cubero, FJ; Diaz-Ruiz, A; Fernandez-Barrena, MG; Fernandez-Iglesias, A; Fernandez-Veledo, S; Frances, R; Gallego-Duran, R; Gracia-Sancho, J; Irimia, M; Lens, S; Martinez-Chantar, ML; Minguez, B; Munoz-Hernandez, R; Nogueiras, R; Ramos-Molina, B; Riveiro-Barciela, M; Rodriguez-Peralvarez, ML; Romero-Gomez, M; Sabio, G; Sancho-Bru, P; Ventura-Cots, M; Vidal, S; Gahete, MDhttps://doi.org/10.1016/j.gastrohep.2024.502207