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Page 1
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
van Prooije TH, Pennings M, Dorresteijn L, Gardeitchik T, Odekerken VJJ, Oosterloo M, Pedersen A, Verschuuren-Bemelmans CC, Vrancken A, Kamsteeg EJ, van de Warrenburg BPC. van Prooije TH, et al. Among authors: kamsteeg ej. Mov Disord. 2024 Sep;39(9):1636-1640. doi: 10.1002/mds.29912. Epub 2024 Jul 7. Mov Disord. 2024. PMID: 38973070
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.
van de Pol M, O'Gorman L, Corominas-Galbany J, Cliteur M, Derks R, Verbeek NE, van de Warrenburg B, Kamsteeg EJ. van de Pol M, et al. Among authors: kamsteeg ej. Mov Disord. 2023 Aug;38(8):1555-1556. doi: 10.1002/mds.29441. Epub 2023 May 11. Mov Disord. 2023. PMID: 37165958 No abstract available.
The FGF14 gene is a milestone in ataxia genetics.
van de Warrenburg BP, Kamsteeg EJ. van de Warrenburg BP, et al. Among authors: kamsteeg ej. EBioMedicine. 2024 Feb;100:104994. doi: 10.1016/j.ebiom.2024.104994. Epub 2024 Feb 1. EBioMedicine. 2024. PMID: 38301484 Free PMC article. No abstract available.
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB, Bouman K, Molenaar JPF, de Winter JM, Duijkers FAM, Eftimov F, Verschuuren-Bemelmans CC, van der Laan T, Küsters B, Malfatti E, Kamsteeg EJ, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: kamsteeg ej. J Neuromuscul Dis. 2024 Sep 4. doi: 10.3233/JND-230196. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 39240645
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.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 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.
Optical Genome Mapping for Applications in Repeat Expansion Disorders.
van der Sanden B, Neveling K, Pang AWC, Shukor S, Gallagher MD, Burke SL, Kamsteeg EJ, Hastie A, Hoischen A. van der Sanden B, et al. Among authors: kamsteeg ej. Curr Protoc. 2024 Jul;4(7):e1094. doi: 10.1002/cpz1.1094. Curr Protoc. 2024. PMID: 38966883
KBTBD13 is a novel cardiomyopathy gene.
de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W, Wijngaarden JV, Timmermans J, Nijveldt R, van den Heuvel F, Kamsteeg EJ, van Engelen BG, Galli R, Bogaards SJP, Boon RA, van der Pijl RJ, Granzier H, Koeleman B, Amin AS, van der Velden J, van Tintelen JP, van den Berg MP, van Spaendonck-Zwarts KY, Voermans NC, Ottenheijm CAC. de Winter JM, et al. Among authors: kamsteeg ej. Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36335629 Free PMC article.
237 results