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34 results

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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. 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.
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Among authors: kegele j. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
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. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Defining benchmark outcomes for mesial temporal lobe epilepsy surgery: A global multicenter analysis of 1119 cases.
Drexler R, Ricklefs FL, Ben-Haim S, Rada A, Wörmann F, Cloppenborg T, Bien CG, Simon M, Kalbhenn T, Colon A, Rijkers K, Schijns O, Borger V, Surges R, Vatter H, Rizzi M, de Curtis M, Didato G, Castelli N, Carpentier A, Mathon B, Yasuda CL, Cendes F, Chandra PS, Tripathi M, Clusmann H, Delev D, Guenot M, Haegelen C, Catenoix H, Lang J, Hamer H, Brandner S, Walther K, Hauptmann JS, Jeffree RL, Kegele J, Weinbrenner E, Naros G, Velz J, Krayenbühl N, Onken J, Schneider UC, Holtkamp M, Rössler K, Spyrantis A, Strzelczyk A, Rosenow F, Stodieck S, Alonso-Vanegas MA, Wellmer J, Wehner T, Dührsen L, Gempt J, Sauvigny T. Drexler R, et al. Among authors: kegele j. Epilepsia. 2024 May;65(5):1333-1345. doi: 10.1111/epi.17923. Epub 2024 Feb 24. Epilepsia. 2024. PMID: 38400789
34 results