Need Help?

Copied to clipboard!

Solve-RD - holding title

Solve-RD - holding description

Type: Other
Archive: European Genome-phenome Archive (EGA)

10 Publications

Publications	Citations
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report. Lagorce D, Lebreton E, Matalonga L, Hongnat O, Chahdil M, Piscia D, Paramonov I, Ellwanger K, Köhler S, Robinson P, Graessner H, Beltran S, Lucano C, Hanauer M, Rath A. Eur J Hum Genet 32: 2024 182-189	13
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S, Solve-RD consortium, Lohmann K, Ossowski S. Eur J Hum Genet 32: 2024 998-1004	20
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. Gigascience 13: 2024 giae058	7
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. NPJ Genom Med 9: 2024 49	7
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, Brookes AJ, Evangelista T, Gilissen C, Graessner H, Hoogerbrugge N, Ossowski S, Riess O, Schüle R, Synofzik M, Verloes A, Matalonga L, Brunner HG, Lohmann K, de Voer RM, Töpf A, Vissers LELM, Beltran S, Hoischen A. Nat Med 31: 2025 478-489	41
Unraveling 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, Solve-RD consortium. Genome Res 35: 2025 755-768	28
Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer. Terradas M, Mur P, Morón-Duran FD, Mengod P, Löffler CML, Helderman NC, Terlouw D, Sanjuán X, Bousquets-Muñoz P, Viana-Errasti J, Puente XS, Capellá G, Nielsen M, van Wezel T, Kather JN, Lázaro C, Moreno V, Valle L. Clin Epigenetics 17: 2025 183	1
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. Menden B, Incebacak Eltemur RD, Demidov G, Sturm M, Park J, Huridou C, Fath F, Nümann A, Baumann A, Diets IJ, Dufke C, Regensburger M, Rönnefarth M, Wilke V, van Os N, Vielhaber S, Rattay TW, Kohl Z, Peralta S, Pereira Sena P, Kellner M, Weissert N, Traschütz A, Zeltner L, Boelmans K, Deininger N, Schütz L, Gross C, Hinojosa Amaya AB, Raupach K, Hengel H, Harmuth F, Admard J, Bader I, Baumann S, Bender F, Bevot A, Bischoff A, Boschann F, Buchert R, Buchzik D, Casadei N, Catarino CB, Cordts I, Cremer K, Doebler-Neumann M, Ehmke N, Elbracht M, Falb RJ, Feindt T, Fleszar Z, Gerstner L, Gläser D, Grasshoff U, Grosch S, Grundmann K, Gutschalk A, Haaga M, Hayer S, Hehr U, Hellenbroich Y, Henn W, Herr B, Herzog R, Horber V, Deppe J, Kaiser N, Kehrer C, Kehrer M, Kern J, Keßler C, Khuller K, Klinkhammer H, Kotzaeridou U, Krawitz P, Kreiss M, Küpper H, Kuster A, Laugwitz L, Lesemann A, Lichey N, Linden T, Macek B, Magg J, Mangold E, Manka E, Marquardt I, Mehnert K, Mengel D, Morlot S, Oehl-Jaschkowitz B, Pauly MG, Philipp M, Radelfahr F, Rautenberg M, Riess A, Saft C, Schlotter-Weigel B, Schmidt A, Schwaibold EMC, Spahlinger V, Spranger S, Steiner KM, Stendel C, Thieme A, Tzschach A, Velic A, Wiethoff S, Wilke C, Züchner S, Zittel S, Solve-RD consortium, Husain RA, Deschauer M, Distelmaier F, Dufke A, Graessner H, Hemmer B, Jacobi H, Klockgether T, Klopstock T, Kobeleva X, Korenke GC, Kuechler A, Kuhlenbäumer G, Kurth I, Nguyen HP, Wunderlich G, Zeuner KE, Klebe S, Auer-Grumbach M, Butryn M, Winkler J, Timmann D, Synofzik M, van de Warrenburg B, Schüle R, Schöls L, Ossowski S, Riess O, Weber JJ, Haack TB. Nat Commun 17: 2026 1698	1
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants. Martins N, Terradas M, Garcia-Pelaez J, Sommer AK, Demidov G, Matalonga L, Ramos-Muntada M, Te Paske IBAW, Spier I, Mensenkamp A, Schuurs-Hoeijmakers J, Gullo I, São José C, Pedro AM, Gouveia Silva R, Sousa AB, Amoroso Canão P, Fernandes S, Garrido L, Dupont J, Maia S, Sousa G, Irmejs A, Barili V, Blatnik A, Rofes P, Brunet J, Capellá G, Laurie S, Lázaro C, Hoogerbrugge N, de Voer RM, Aretz S, Oliveira C, Valle L. JCO Precis Oncol 10: 2026 e2500354	0
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework. Wüstner LS, Ellwanger K, Schuermans N, Demidov G, Polavarapu K, Matalonga L, Laurie S, Solve-RD DITF-RND, Solve-RD DITF-EURO-NMD, Töpf A, Lohmann K, Graessner H. J Neuromuscul Dis None: 2026 22143602261460689	0