TitleDateAuthorsDOI
The cellular landscape of the endochondral bone during the transition to extrauterine life2024-02-01Rueda, AD; Salvador-Martínez, I; Sospedra-Arrufat, I; Alcaina-Caro, A; Fernández-Miñán, A; Burgos-Ruiz, AM; Cases, I; Mohedano, A; Tena, JJ; Heyn, H; Lopez-Rios, J; Nusspaumer, Ghttps://doi.org/10.1111/imcb.12718
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples2024-02-01Wijngaard, R; Demidov, G; O'Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; Vissers, LELM; Kamsteeg, EJ; Pfundt, R; Swinkels, H; den Ouden, A; te Paske, IBAW; de Voer, RM; Faivre, L; Denomme-Pichon, AS; Duffourd, Y; Vitobello, A; Chevarin, M; Straub, V; Toepf, A; van der Kooi, AJ; Magrinelli, F; Rocca, C; Hanna, MG; Vandrovcova, J; Ossowski, S; Laurie, S; Gilissen, Chttps://doi.org/10.1038/s41431-023-01478-7
Integrative single-cell expression and functional studies unravels a sensitization to cytarabine-based chemotherapy through HIF pathway inhibition in AML leukemia stem cells2024-02-01Velasco-Hernandez, T; Trincado, JL; Vinyoles, M; Closa, A; Martínez-Moreno, A; Gutiérrez-Agüera, F; Molina, O; Rodríguez-Cortez, VC; Ximeno-Parpal, P; Fernández-Fuentes, N; Petazzi, P; Beneyto-Calabuig, S; Velten, L; Romecin, P; Casquero, R; Abollo-Jiménez, F; de la Guardia, RD; Lorden, P; Bataller, A; Lapillonne, H; Stam, RW; Vives, S; Torrebadell, M; Fuster, JL; Bueno, C; Sarry, JE; Eyras, E; Heyn, H; Menéndez, Phttps://doi.org/10.1002/hem3.45
Identification of constrained sequence elements across 239 primate genomes2024-01-25Kuderna, LFK; Ulirsch, JC; Rashid, S; Ameen, M; Sundaram, L; Hickey, G; Cox, AJ; Gao, H; Kumar, A; Aguet, F; Christmas, MJ; Clawson, H; Haeussler, M; Janiak, MC; Kuhlwilm, M; Orkin, JD; Bataillon, T; Manu, S; Valenzuela, A; Bergman, J; Rouselle, M; Silva, FE; Agueda, L; Blanc, J; Gut, M; de Vries, D; Goodhead, I; Harris, RA; Raveendran, M; Jensen, A; Chuma, IS; Horvath, JE; Hvilsom, C; Juan, D; Frandsen, P; Schraiber, JG; de Melo, FR; Bertuol, F; Byrne, H; Sampaio, I; Farias, I; Valsecchi, J; Messias, M; da Silva, MNF; Trivedi, M; Rossi, R; Hrbek, T; Andriaholinirina, N; Rabarivola, CJ; Zaramody, A; Jolly, CJ; Phillips-Conroy, J; Wilkerson, G; Abee, C; Simmons, JH; Fernandez-Duque, E; Kanthaswamy, S; Shiferaw, F; Wu, DD; Zhou, L; Shao, Y; Zhang, GJ; Keyyu, JD; Knauf, S; Le, MD; Lizano, E; Merker, S; Navarro, A; Nadler, T; Khor, CC; Lee, J; Tan, P; Lim, WK; Kitchener, AC; Zinner, D; Gut, I; Melin, AD; Guschanski, K; Schierup, MH; Beck, RMD; Karakikes, I; Wang, KC; Umapathy, G; Roos, C; Boubli, JP; Siepel, A; Kundaje, A; Paten, B; Lindblad-Toh, K; Rogers, J; Bonet, TM; Farh, KKHhttps://doi.org/10.1038/s41586-023-06798-8
Genomic insights into the Montseny brook newt (Calotriton arnoldi), a Critically Endangered glacial relict2024-01-19Talavera, A; Palmada-Flores, M; Burriel-Carranza, B; Valbuena-Ureña, E; Mochales-Riaño, G; Adams, DC; Tejero-Cicuéndez, H; Soler-Membrives, A; Amat, F; Guinart, D; Carbonell, F; Obon, E; Marquès-Bonet, T; Carranza, Shttps://doi.org/10.1016/j.isci.2023.108665
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort2024-01-04Polavarapu, K; Sunitha, B; Töpf, A; Preethish-Kumar, V; Thompson, R; Vengalil, S; Nashi, S; Bardhan, M; Sanka, SB; Huddar, A; Unnikrishnan, G; Arunachal, G; Girija, MS; Porter, A; Azuma, Y; Lorenzoni, PJ; Baskar, D; Anjanappa, RM; Keertipriya, M; Padmanabh, H; Harikrishna, GV; Laurie, S; Matalonga, L; Horvath, R; Nalini, A; Lochmüller, Hhttps://doi.org/10.1093/brain/awad315
The genome sequence of the Montseny horsehair worm , Gordionus montsenyensis sp. nov., key resource to investigate Ecdysozoa evolution2024-01-01Eleftheriadi, K; Guiglielmoni, N; Salces-Ortiz, J; Vargas-Chavez, C; Martínez-Redondo, GI; Gut, M; Flot, JF; Schmidt-Rhaesa, A; Fernández, Rhttps://doi.org/10.24072/pcjournal.381
Spatial transcriptomics and in situ immune cell profiling of the host ectocervical landscape of HIV infected Kenyan sex working women2024-01-01Franzén Boger M; Kaldhusdal V; Pascual-Reguant A; Kroh S; Uecker R; Burgener AD; Lajoie J; Omollo K; Kimani J; Fowke KR; Hauser AE; Tjernlund A; Broliden Khttps://doi.org/10.3389/fimmu.2024.1483346
Single-cell multi-omics analysis of COVID-19 patients with pre-existing autoimmune diseases shows aberrant immune responses to infection2024-01-01Barmada, A; Handfield, LF; Godoy-Tena, G; de la Calle-Fabregat, C; Ciudad, L; Arutyunyan, A; Andrés-León, E; Hoo, R; Porter, T; Oszlanczi, A; Richardson, L; Calero-Nieto, FJ; Wilson, NK; Marchese, D; Sancho-Serra, C; Carrillo, J; Presas-Rodríguez, S; Ramo-Tello, C; Ruiz-Sanmartin, A; Ferrer, R; Ruiz-Rodriguez, JC; Martínez-Gallo, M; Munera-Campos, M; Carrascosa, JM; Göttgens, B; Heyn, H; Prigmore, E; Casafont-Solé, I; Solanich, X; Sánchez-Cerrillo, I; González-Alvaro, I; Raimondo, MG; Ramming, A; Martin, J; Martínez-Cáceres, E; Ballestar, E; Vento-Tormo, R; Rodríguez-Ubreva, Jhttps://doi.org/10.1002/eji.202350633
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy2024-01-01Estévez-Arias, B; Matalonga, L; Martorell, L; Codina, A; Ortez, C; Carrera-García, L; Expósito-Escudero, J; Yubero, D; Hoenicka, J; Jou, C; Palau, F; Beltran, S; Lochmüller, H; Töpf, A; Nascimento, A; Natera-de Benito, Dhttps://doi.org/10.3233/JND-230216
Convert-Pheno: A software toolkit for the interconversion of standard data models for phenotypic data2024-01-01Rueda, M; Leist, IC; Gut, IGhttps://doi.org/10.1016/j.jbi.2023.104558
Enhancer-driven 3D chromatin domain folding modulates transcription in human mammary tumor cells2024-01-01Kocanova, S; Raynal, F; Goiffon, I; Oksuz, BA; Baú, D; Kamgoué, A; Cantaloube, S; Zhan, Y; Lajoie, B; Marti-Renom, MA; Dekker, J; Bystricky, Khttps://doi.org/10.26508/lsa.202302154
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy2024-01-01Roos A; Häusler M; Kollipara L; Topf A; Preusse C; Stucka R; Nolte K; Strom T; Berutti R; Jiang X; Koll R; Lochmüller H; Schacht SM; Zahedi RP; Weis J; Senderek Jhttps://doi.org/10.3233/JND-240050
Host genetic and immune factors drive evasion of HIV-1 pathogenesis in viremic non-progressors2024-01-01Bayón-Gil Á; Hernández I; Dalmau J; Nieto JC; Urrea V; Garrido-Sanz L; Caratú G; García-Guerrero MC; Gálvez C; Salgado M; Erkizia I; Laguía F; Resa-Infante P; Massanella M; Tonda R; Morata J; Hong KY; Koshy J; Goldman AR; Giron L; Abdel-Mohsen M; Heyn H; Martinez-Picado J; Puertas MChttps://doi.org/10.1016/j.medj.2024.09.007
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit2024-01-01Kastreva K; Chamova T; Blagoeva S; Bichev S; Mihaylova V; Meyer S; Thompson R; Cherninkova S; Guergueltcheva V; Lochmuller H; Tournev Ihttps://doi.org/10.3233/JND-230235
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort2024-01-01Baskar D; Reddy N; Preethish-Kumar V; Polavarapu K; Nishadham V; Vengalil S; Nashi S; Sanka SB; Bardhan M; Huddar A; Unnikrishnan G; Harikrishna GV; Gunasekaran S; Thomas PT; Keerthipriya MS; Girija MS; Arunachal G; Anjanappa RM; Nishino I; Pogoryelova O; Lochmuller H; Nalini Ahttps://doi.org/10.3233/JND-230130
Atlantic mackerel population structure does not support genetically distinct spawning components2024-01-01Manuzzi A; Aguirre-Sarabia I; Díaz-Arce N; Bekkevold D; Jansen T; Gomez-Garrido J; Alioto TS; Gut M; Castonguay M; Sanchez-Maroño S; Álvarez P; Rodriguez-Ezpeleta Nhttps://doi.org/10.12688/openreseurope.17365.1
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort2024-01-01Baskar, Dipti; Reddy, Nishanth; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Nishadham, Vikas; Vengalil, Seena; Nashi, Saraswati; Sanka, Sai Bhargava; Bardhan, Mainak; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Harikrishna, Ganaraja Valakunja; Gunasekaran, Swetha; Thomas, Priya Treesa; Suhasini, Muddasu; Girija, Manu Santhappan; Arunachalf, Gautham; Anjanappag, Ram Murthy; Nishino, Ichizo; Pogoryelova, Oksana; Lochmulle, Hanns; Nalini, Atchayaramhttps://doi.org/10.3233/JND-230130Press
Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package2023-12-31Ruiz-Arenas, C; Abarrategui, L; Hernandez-Ferrer, C; Escribà-Montagut, X; Pelegrí-Sisó, D; Ryser-Welch, P; Vrijheid, M; Bustamante, M; Grazuleviciene, (2023). Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package. Epigenetics, 18(1), 2230670-. DOI: 10.1080/15592294.2023.2230670https://doi.org/10.1080/15592294.2023.2230670
Differential kinetics of splenic CD169+macrophage death is one underlying cause of virus infection fate regulation2023-12-18Casella, V; Domenjo-Vila, E; Esteve-Codina, A; Pedragosa, M; Rica, PC; Vidal, E; de la Rubia, I; López-Rodríguez, C; Bocharov, G; Argilaguet, J; Meyer (2023). Differential kinetics of splenic CD169+macrophage death is one underlying cause of virus infection fate regulation. Cell Death & Disease, 14(12), 838-. DOI: 10.1038/s41419-023-06374-yhttps://doi.org/10.1038/s41419-023-06374-y