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Page 1
Impact of social determinants of health on the outcomes of Latin American children with Multisystem Inflammatory Syndrome (MIS-C).
Buonsenso D, Camporesi A, Sawaya C, Ulloa-Gutierrez R, Faugier-Fuentes E, Dueñas L, Paternina-de la Ossa RA, Llamas-Guillén BA, Gámez-González LB, Gálvez-Rafael N, Gatica A, Saltigeral-Simental P, Cuatecontzi-Romero A, Almeida FJ, Cuan S, Zapata-Yarlequé EH, Beltrán S, Reina-Bautista E, Collia A, Ivankovich-Escoto G, Fernández-Sarmiento J, Tremoulet AH; REKAMLATINA‐3 MIS‐C Study Group Investigators. Buonsenso D, et al. Among authors: beltran s. Pediatr Pulmonol. 2024 Dec 26. doi: 10.1002/ppul.27313. Online ahead of print. Pediatr Pulmonol. 2024. PMID: 39723622
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: beltran s. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
A Randomized Trial Comparing Inhaled Insulin Plus Basal Insulin Versus Usual Care in Adults With Type 1 Diabetes.
Hirsch IB, Beck RW, Marak MC, Kudva Y, Akturk HK, Bhargava A, Codorniz K, Diner J, Aleppo G, Blevins T, Levy CJ, Raskin P, Castorino K, Manessis A, Pickering D, Steenkamp DW, Weinstock RS, Bode BW, Hamdy O, Nguyen QT, Kipnes M, Ruedy KJ, Desjardins D, Haider Z, Jacobson C, Lee S, Buse JB, Klein KR, O'Malley G, Church MM, Mottalib A, Baran JD, Kurek C, Rizvi S, Donahue C, Tamarez D, Atakov Castillo A, Borgman S, Frey S, Calhoun P; INHALE-3 Study Group. Hirsch IB, et al. Diabetes Care. 2024 Dec 6:dc241832. doi: 10.2337/dc24-1832. Online ahead of print. Diabetes Care. 2024. PMID: 39641970
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. Among authors: beltran s. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Efficacy and Safety of a Tubeless AID System Compared With Pump Therapy With CGM in the Treatment of Type 1 Diabetes in Adults With Suboptimal Glycemia: A Randomized, Parallel-Group Clinical Trial.
Renard E, Weinstock RS, Aleppo G, Bode BW, Brown SA, Castorino K, Hirsch IB, Kipnes MS, Laffel LM, Lal RA, Penfornis A, Riveline JP, Shah VN, Thivolet C, Ly TT; OP5-003 Research Group. Renard E, et al. Diabetes Care. 2024 Dec 1;47(12):2248-2257. doi: 10.2337/dc24-1550. Diabetes Care. 2024. PMID: 39423118 Free PMC article. Clinical Trial.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: beltran s. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Among authors: beltran s. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
408 results