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Page 1
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A. Vázquez-Domínguez I, et al. Among authors: kwint m. Cells. 2022 Nov 17;11(22):3640. doi: 10.3390/cells11223640. Cells. 2022. PMID: 36429068 Free PMC article.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Among authors: kwint mp. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Among authors: kwint mp. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ. Willemsen MA, et al. Among authors: kwint mp. Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378819 Free PMC article.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY. Pfundt R, et al. Among authors: kwint mp. Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28574513 Free PMC article.
Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Pauper M, et al. Among authors: kwint m. Eur J Hum Genet. 2021 Apr;29(4):637-648. doi: 10.1038/s41431-020-00770-0. Epub 2020 Nov 30. Eur J Hum Genet. 2021. PMID: 33257779 Free PMC article.
Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Pauper M, et al. Among authors: kwint m. Eur J Hum Genet. 2021 Apr;29(4):720. doi: 10.1038/s41431-021-00868-z. Eur J Hum Genet. 2021. PMID: 33772160 Free PMC article. No abstract available.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Sabatella M, Mantere T, Waanders E, Neveling K, Mensenkamp AR, van Dijk F, Hehir-Kwa JY, Derks R, Kwint M, O'Gorman L, Tropa Martins M, Gidding CE, Lequin MH, Küsters B, Wesseling P, Nelen M, Biegel JA, Hoischen A, Jongmans MC, Kuiper RP. Sabatella M, et al. Among authors: kwint m. J Pathol. 2021 Oct;255(2):202-211. doi: 10.1002/path.5755. Epub 2021 Jul 29. J Pathol. 2021. PMID: 34231212 Free PMC article.
53 results