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VUS: Variant of uncertain significance or very unclear situation?
Kemp S, Orsini JJ, Ebberink MS, Engelen M, Lund TC. Kemp S, et al. Among authors: ebberink ms. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107678. doi: 10.1016/j.ymgme.2023.107678. Epub 2023 Aug 3. Mol Genet Metab. 2023. PMID: 37574344
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S. van de Stadt SIW, et al. Among authors: ebberink ms. Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. Genes (Basel). 2021. PMID: 34946879 Free PMC article.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. Among authors: ebberink ms. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 Free PMC article.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: ebberink ms. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Zeharia A, Ebberink MS, Wanders RJA, Waterham HR, Gutman A, Nissenkorn A, Korman SH. Zeharia A, et al. Among authors: ebberink ms. J Hum Genet. 2007;52(7):599-606. doi: 10.1007/s10038-007-0157-y. Epub 2007 May 30. J Hum Genet. 2007. PMID: 17534573
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S. Schwantje M, et al. Among authors: ebberink ms. J Inherit Metab Dis. 2022 Jul;45(4):819-831. doi: 10.1002/jimd.12503. Epub 2022 May 5. J Inherit Metab Dis. 2022. PMID: 35403730 Free PMC article.
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