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Page 1
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: donker kaat l. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: donker kaat l. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
LRP10 variants in progressive supranuclear palsy.
Vergouw LJM, Melhem S, Donker Kaat L, Chiu WZ, Kuipers DJS, Breedveld G, Boon AJW, Wang LS, Naj AC, Mlynarksi E, Cantwell L, Quadri M, Ross OA, Dickson DW, Schellenberg GD, van Swieten JC, Bonifati V, de Jong FJ. Vergouw LJM, et al. Among authors: donker kaat l. Neurobiol Aging. 2020 Oct;94:311.e5-311.e10. doi: 10.1016/j.neurobiolaging.2020.04.016. Epub 2020 Apr 30. Neurobiol Aging. 2020. PMID: 32527607 Free PMC article.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Among authors: donker kaat l. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.
Somatic TARDBP variants as a cause of semantic dementia.
van Rooij J, Mol MO, Melhem S, van der Wal P, Arp P, Paron F, Donker Kaat L, Seelaar H; Netherlands Brain Bank; Miedema SSM, Oshima T, Eggen BJL, Uitterlinden A, van Meurs J, van Kesteren RE, Smit AB, Buratti E, van Swieten JC. van Rooij J, et al. Among authors: donker kaat l. Brain. 2020 Dec 1;143(12):3827-3841. doi: 10.1093/brain/awaa317. Brain. 2020. PMID: 33155043 Free PMC article.
Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia.
Jiskoot LC, Panman JL, van Asseldonk L, Franzen S, Meeter LHH, Donker Kaat L, van der Ende EL, Dopper EGP, Timman R, van Minkelen R, van Swieten JC, van den Berg E, Papma JM. Jiskoot LC, et al. Among authors: donker kaat l. J Neurol. 2018 Jun;265(6):1381-1392. doi: 10.1007/s00415-018-8850-7. Epub 2018 Apr 7. J Neurol. 2018. PMID: 29627938 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Serum neurofilament light chain in progressive supranuclear palsy.
Donker Kaat L, Meeter LH, Chiu WZ, Melhem S, Boon AJW, Blennow K, Zetterberg H, van Swieten JC. Donker Kaat L, et al. Parkinsonism Relat Disord. 2018 Nov;56:98-101. doi: 10.1016/j.parkreldis.2018.06.018. Epub 2018 Jun 12. Parkinsonism Relat Disord. 2018. PMID: 29937097
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
Mol MO, van Rooij JGJ, Brusse E, Verkerk AJMH, Melhem S, den Dunnen WFA, Rizzu P, Cupidi C, van Swieten JC, Donker Kaat L. Mol MO, et al. Among authors: donker kaat l. Neurol Genet. 2020 Mar 23;6(3):e417. doi: 10.1212/NXG.0000000000000417. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337344 Free PMC article.
36 results