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Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.
Mol Genet Metab. 2022 Jul;136(3):199-218. doi: 10.1016/j.ymgme.2022.05.002. Epub 2022 May 25.
Mol Genet Metab. 2022.
PMID: 35660124
Free article.
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.
Van Opstal D, Eggenhuizen GM, Joosten M, Diderich K, Govaerts L, Galjaard RJ, Go A, Knapen M, Boter M, Cheung WY, van Koetsveld N, van Veen S, de Valk WG, Jehee F, de Vries F, Hollink I, Hoefsloot L, Srebniak M.
Van Opstal D, et al. Among authors: de valk wg.
Prenat Diagn. 2020 Sep;40(10):1338-1342. doi: 10.1002/pd.5766. Epub 2020 Jun 29.
Prenat Diagn. 2020.
PMID: 32533714
Free PMC article.
No abstract available.
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Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Srebniak MI, Jehee FS, Joosten M, Boter M, de Valk WG, van der Helm R, Sistermans EA, Voorhoeve E, Bhola S, Hoffer MJV, den Hollander N, Macville MVE, Van Opstal D.
Srebniak MI, et al. Among authors: de valk wg.
Acta Obstet Gynecol Scand. 2021 Nov;100(11):2036-2043. doi: 10.1111/aogs.14256. Epub 2021 Sep 1.
Acta Obstet Gynecol Scand. 2021.
PMID: 34472080
Free article.
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High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ.
Douben HCW, et al. Among authors: de valk w.
Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8.
Hum Mutat. 2022.
PMID: 36251260
Free PMC article.
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Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Berdowski WM, van der Linde HC, Breur M, Oosterhof N, Beerepoot S, Sanderson L, Wijnands LI, de Jong P, Tsai-Meu-Chong E, de Valk W, de Witte M, van IJcken WFJ, Demmers J, van der Knaap MS, Bugiani M, Wolf NI, van Ham TJ.
Berdowski WM, et al. Among authors: de valk w.
Acta Neuropathol. 2022 Aug;144(2):211-239. doi: 10.1007/s00401-022-02440-5. Epub 2022 Jun 17.
Acta Neuropathol. 2022.
PMID: 35713703
Free PMC article.
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS.
Perenthaler E, et al. Among authors: de valk wg.
Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9.
Acta Neuropathol. 2020.
PMID: 31820119
Free PMC article.
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An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer.
Levink IJM, Srebniak MI, De Valk WG, van Veghel-Plandsoen MM, Wagner A, Cahen DL, Fuhler GM, Bruno MJ.
Levink IJM, et al. Among authors: de valk wg.
Int J Mol Sci. 2023 Mar 7;24(6):5097. doi: 10.3390/ijms24065097.
Int J Mol Sci. 2023.
PMID: 36982172
Free PMC article.
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ.
Dekker J, et al. Among authors: de valk wg.
Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19.
Am J Hum Genet. 2023.
PMID: 36669495
Free PMC article.
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