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Did you mean bengoechea j (118 results)?
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: vengoechea j. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: vengoechea j. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: vengoechea j. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022 Free PMC article.
Procalcitonin and C-reactive protein to rule out early bacterial coinfection in COVID-19 critically ill patients.
Galli F, Bindo F, Motos A, Fernández-Barat L, Barbeta E, Gabarrús A, Ceccato A, Bermejo-Martin JF, Ferrer R, Riera J, Peñuelas O, Lorente JÁ, de Gonzalo-Calvo D, Menéndez R, Gonzalez J, Misuraca S, Palomeque A, Amaya-Villar R, Añón JM, Balan Mariño A, Barberà C, Barberán J, Blandino Ortiz A, Bustamante-Munguira E, Caballero J, Cantón-Bulnes ML, Carbajales Pérez C, Carbonell N, Catalán-González M, de Frutos R, Franco N, Galbán C, Lopez Lago A, Gumucio-Sanguino VD, de la Torre MDC, Díaz E, Estella Á, Gallego Curto E, García-Garmendia JL, Gómez JM, Huerta A, Jorge García RN, Loza-Vázquez A, Marin-Corral J, Martin Delgado MC, Martínez de la Gándara A, Martínez Varela I, Lopez Messa J, M Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pérez-García F, Pozo-Laderas JC, Ricart P, Sagredo V, Sánchez-Miralles A, Sancho Chinesta S, Roche-Campo F, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Boado MV, Rodríguez A, Antonelli M, Blasi F, Barbé F, Torres A; CIBERESUCICOVID Project investigators (COV20/00110, ISCIII). Galli F, et al. Intensive Care Med. 2023 Aug;49(8):934-945. doi: 10.1007/s00134-023-07161-1. Epub 2023 Jul 28. Intensive Care Med. 2023. PMID: 37507573 Free PMC article.
Clustering COVID-19 ARDS patients through the first days of ICU admission. An analysis of the CIBERESUCICOVID Cohort.
Ceccato A, Forne C, Bos LD, Camprubí-Rimblas M, Areny-Balagueró A, Campaña-Duel E, Quero S, Diaz E, Roca O, De Gonzalo-Calvo D, Fernández-Barat L, Motos A, Ferrer R, Riera J, Lorente JA, Peñuelas O, Menendez R, Amaya-Villar R, Añón JM, Balan-Mariño A, Barberà C, Barberán J, Blandino-Ortiz A, Boado MV, Bustamante-Munguira E, Caballero J, Carbajales C, Carbonell N, Catalán-González M, Franco N, Galbán C, Gumucio-Sanguino VD, de la Torre MDC, Estella Á, Gallego E, García-Garmendia JL, Garnacho-Montero J, Gómez JM, Huerta A, Jorge-García RN, Loza-Vázquez A, Marin-Corral J, Martínez de la Gándara A, Martin-Delgado MC, Martínez-Varela I, Messa JL, Muñiz-Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pozo-Laderas JC, Pérez-García F, Ricart P, Roche-Campo F, Rodríguez A, Sagredo V, Sánchez-Miralles A, Sancho-Chinesta S, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo-Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Bermejo J, Gonzalez J, Barbe F, Calfee CS, Artigas A, Torres A; CIBERESUCICOVID Project. Ceccato A, et al. Crit Care. 2024 Mar 21;28(1):91. doi: 10.1186/s13054-024-04876-5. Crit Care. 2024. PMID: 38515193 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: vengoechea je. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Among authors: vengoechea j. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
51 results