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Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: pineda m. medRxiv [Preprint]. 2024 May 4:2024.05.03.24306761. doi: 10.1101/2024.05.03.24306761. medRxiv. 2024. PMID: 38746299 Free PMC article. Preprint.
Predictors of anastomotic leak and conduit necrosis after oesophagectomy: Results from the oesophago-gastric anastomosis audit (OGAA).
Griffiths EA; Oesophago-Gastric Anastomotic Audit (OGAA) Collaborative; Writing Committee; Data Analysis; Steering Committee; National Leads; Site Leads; Collaborators. Griffiths EA, et al. Eur J Surg Oncol. 2024 Mar 7;50(6):107983. doi: 10.1016/j.ejso.2024.107983. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 38613995
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: pineda m. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
Total Effective Xenoestrogen Burden in Serum Samples and Risk of Endometrial Cancer in the Spanish Screenwide Case-Control Study.
Costas L, Frias-Gomez J, Peinado FM, Molina-Molina JM, Peremiquel-Trillas P, Paytubi S, Crous-Bou M, de Francisco J, Caño V, Benavente Y, Pelegrina B, Martínez JM, Pineda M, Brunet J, Matias-Guiu X, de Sanjosé S, Ponce J, Olea N, Alemany L, Fernández MF. Costas L, et al. Among authors: pineda m. Environ Health Perspect. 2024 Feb;132(2):27012. doi: 10.1289/EHP13202. Epub 2024 Feb 28. Environ Health Perspect. 2024. PMID: 38415615 Free PMC article.
Geographically widespread and novel hemotropic mycoplasmas and bartonellae in Mexican free-tailed bats and sympatric North American bat species.
Becker DJ, Dyer KE, Lock LR, Pladas SA, Sukhadia AA, Demory B, Batista JMN, Pineda M, Simmons NB, Adams AM, Frick WF, O'Mara MT, Volokhov DV. Becker DJ, et al. Among authors: pineda m. bioRxiv [Preprint]. 2024 Feb 9:2024.02.08.577874. doi: 10.1101/2024.02.08.577874. bioRxiv. 2024. PMID: 38370734 Free PMC article. Preprint.
742 results