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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1953 1
1957 3
1958 1
1959 2
1960 3
1962 1
1965 3
1968 3
1969 3
1970 3
1972 2
1974 1
1975 1
1980 1
1982 1
1983 1
1984 1
1985 2
1986 3
1988 3
1989 6
1990 2
1991 7
1992 4
1993 3
1994 4
1995 4
1996 1
1997 4
1998 4
1999 5
2000 4
2002 2
2003 3
2004 1
2005 2
2006 5
2007 4
2008 4
2009 2
2010 3
2011 1
2013 3
2014 7
2015 5
2016 6
2017 5
2018 9
2019 3
2020 8
2021 17
2022 6
2023 10
2024 10
2025 22

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211 results

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Page 1
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 co… See abstract for full author list ➔ Laurie S, et al. Among authors: nelson i. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Nat Med. 2025. PMID: 39825153 Free PMC article.
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.
GRK2 kinases in the primary cilium initiate SMOOTHENED-PKA signaling in the Hedgehog cascade.
Walker MF, Zhang J, Steiner W, Ku PI, Zhu JF, Michaelson Z, Yen YC, Lee A, Long AB, Casey MJ, Poddar A, Nelson IB, Arveseth CD, Nagel F, Clough R, LaPotin S, Kwan KM, Schulz S, Stewart RA, Tesmer JJG, Caspary T, Subramanian R, Ge X, Myers BR. Walker MF, et al. Among authors: nelson ib. PLoS Biol. 2024 Aug 13;22(8):e3002685. doi: 10.1371/journal.pbio.3002685. eCollection 2024 Aug. PLoS Biol. 2024. PMID: 39138140 Free PMC article.
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.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Brain-wide circuit-specific targeting of astrocytes.
Thompson A, Arano R, Saleem U, Preciado R, Munoz L, Nelson I, Ramos K, Kim Y, Li Y, Xu W. Thompson A, et al. Among authors: nelson i. Cell Rep Methods. 2023 Dec 18;3(12):100653. doi: 10.1016/j.crmeth.2023.100653. Epub 2023 Dec 4. Cell Rep Methods. 2023. PMID: 38052209 Free PMC article.
A Structural Mechanism for Noncanonical GPCR Signal Transduction in the Hedgehog Pathway.
Steiner WP, Iverson N, Liu G, Venkatakrishnan V, Wu J, Stepniewski TM, Michaelson Z, Bröckel JW, Zhu JF, Bruystens J, Lee A, Nelson I, Bertinetti D, Arveseth CD, Tan G, Spaltenstein P, Xu J, Hüttenhain R, Kay M, Herberg FW, Cao E, Selent J, Anand GS, Dunbrack RL Jr, Taylor SS, Myers BR. Steiner WP, et al. Among authors: nelson i. bioRxiv [Preprint]. 2025 May 27:2024.10.31.621410. doi: 10.1101/2024.10.31.621410. bioRxiv. 2025. PMID: 39554190 Free PMC article. Preprint.
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H. Yépez VA, et al. Among authors: nelson i. Nat Genet. 2025 Oct;57(10):2361-2370. doi: 10.1038/s41588-025-02290-3. Epub 2025 Sep 9. Nat Genet. 2025. PMID: 40926087 Review.
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M, Kölbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marcé-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Schänzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zschüntzsch J, Kornak U, Goméz-Andrés D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M. Jacob M, et al. Among authors: nelson i. Brain. 2025 Jun 11:awaf227. doi: 10.1093/brain/awaf227. Online ahead of print. Brain. 2025. PMID: 40497796
211 results