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Page 1
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. Among authors: van der velde kj. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Among authors: van der velde kj. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
[A skin abnormality on the upper leg].
van der Velde K, van den Moosdijk A, Winkelhorst T. van der Velde K, et al. Ned Tijdschr Geneeskd. 2023 Dec 20;168:D7956. Ned Tijdschr Geneeskd. 2023. PMID: 38175618 Dutch.
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. van der Velde KJ, et al. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, Houdusse A, van IJzendoorn SCD. Dhekne HS, et al. Among authors: van der velde kj. Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Hum Mutat. 2018. PMID: 29266534 Free PMC article. Review.
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians.
van der Velde KJ, Imhann F, Charbon B, Pang C, van Enckevort D, Slofstra M, Barbieri R, Alberts R, Hendriksen D, Kelpin F, de Haan M, de Boer T, Haakma S, Stroomberg C, Scholtens S, van de Geijn GJ, Festen EAM, Weersma RK, Swertz MA. van der Velde KJ, et al. Bioinformatics. 2019 Mar 15;35(6):1076-1078. doi: 10.1093/bioinformatics/bty742. Bioinformatics. 2019. PMID: 30165396 Free PMC article.
reGenotyper: Detecting mislabeled samples in genetic data.
Zych K, Snoek BL, Elvin M, Rodriguez M, Van der Velde KJ, Arends D, Westra HJ, Swertz MA, Poulin G, Kammenga JE, Breitling R, Jansen RC, Li Y. Zych K, et al. Among authors: van der velde kj. PLoS One. 2017 Feb 13;12(2):e0171324. doi: 10.1371/journal.pone.0171324. eCollection 2017. PLoS One. 2017. PMID: 28192439 Free PMC article.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 Free PMC article.
49 results