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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert 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, Saeed Abd Elmaksoud M, 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; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: weiss m. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: weiss mm. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA; CAUSES Study; Stockler-Ipsiroglu SG, Lehman A, Brunner HG. Stevens SJC, et al. Among authors: weiss mm. Hum Mutat. 2018 Jul;39(7):1014-1023. doi: 10.1002/humu.23541. Epub 2018 May 10. Hum Mutat. 2018. PMID: 29688601
Increased Infectious Risk Donor Status and Equity-Relevant Predictors of Organ Donation Organization Approach and Caregiver Consent for Deceased Organ Donation in a Canadian Province (2015-2021).
Leeies M, Doucette K, Dufault B, Carta T, Mooney O, Hrymak C, Balzer N, Borys B, El-Salakawy Y, Ragheb M, Xie D, Christie E, Collister D, Weiss MJ, Dhanani S, Ho J. Leeies M, et al. Among authors: weiss mj. Clin Transplant. 2024 Dec;38(12):e70058. doi: 10.1111/ctr.70058. Clin Transplant. 2024. PMID: 39708307 Free PMC article.
Associations of intraoperative end-tidal CO2 levels with postoperative outcome-secondary analysis of a worldwide observational study.
Nasa P, van Meenen DMP, Paulus F, de Abreu MG, Bossers SM, Schober P, Schultz MJ, Neto AS, Hemmes SNT; LAS VEGAS-investigators; PROVE Network; ESAIC CTN; LAS VEGAS collaborators. Nasa P, et al. J Clin Anesth. 2024 Dec 19;101:111728. doi: 10.1016/j.jclinane.2024.111728. Online ahead of print. J Clin Anesth. 2024. PMID: 39705739 Free article.
Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.
Kawaguchi A, Fernandez A, Baudin F, Chiusolo F, Lee JH, Brierley J, Colleti J Jr, Reiter K, Won Kim K, Lopez Fernandez Y, Kneyber M, Pons-Òdena M, Napolitano N, Graham RJ, Kawasaki T, Garros D, Garcia Guerra G, Jouvet P; LongVentKids study group. Kawaguchi A, et al. Lancet Child Adolesc Health. 2025 Jan;9(1):37-46. doi: 10.1016/S2352-4642(24)00296-7. Lancet Child Adolesc Health. 2025. PMID: 39701660
5,986 results