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International perspectives on the implementation of reproductive carrier screening.
Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J. Delatycki MB, et al. Among authors: schuurmans j. Prenat Diagn. 2020 Feb;40(3):301-310. doi: 10.1002/pd.5611. Epub 2019 Nov 29. Prenat Diagn. 2020. PMID: 31774570 Review.
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.
Birnie E, Schuurmans J, Plantinga M, Abbott KM, Fenwick A, Lucassen A, Berger MY, van Langen IM, Ranchor AV. Birnie E, et al. Among authors: schuurmans j. Genet Med. 2021 Sep;23(9):1761-1768. doi: 10.1038/s41436-021-01199-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34112999 Free PMC article.
Preconception carrier screening in couples seeking IVF: exploring the patient perspective.
Frank C, Laeven CHC, Meulenbroeks D, Coonen E, de Die-Smulders CEM, van Golde RJT, Mallens LM, Paulussen ADC, Schuurmans J, van Osch LADM. Frank C, et al. Among authors: schuurmans j. Reprod Biomed Online. 2024 Sep 21;50(1):104452. doi: 10.1016/j.rbmo.2024.104452. Online ahead of print. Reprod Biomed Online. 2024. PMID: 39647447 Free article.
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: schuurmans j. 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.
139 results