Publicaties

Publicaties 

• Februari 2020: 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. Prenat Diag. 2020 Feb;40(3):301-310. doi: 10.1002/pd.5611. https://www.ncbi.nlm.nih.gov/pubmed/?term=doi%3A+10.1002%2Fpd.5611
• Februari 2020: GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? Schuurmans J, Birnie E, Ranchor AV, Abbott KM, Fenwick A, Lucassen A, Berger MY, Verkerk M, van Langen IM, Plantinga M. Eur J Hum Genet. 2020 Feb;28(2):182-192. doi: 10.1038/s41431-019-0516-0  
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974594/
•  December 2019: TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005.  
  https://www.sciencedirect.com/science/article/pii/S0002929719303933?via%3Dihub
• November 2019: Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists. El Mecky J, Johansson L, Plantinga M, Fenwick A, Lucassen A, Dijkhuizen T, van der Hout A, Lyle K, van Langen I. BMC Med Genomics. 2019 Nov 29;12(1):170. doi: 10.1186/s12920-019-0612-6.
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883538/
• September 2019: Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees. van den Heuvel LM, Huisinga MJ, Hoedemaekers YM, Baas AF, Plantinga M, Henneman L, van Tintelen JP, Smets EMA, Christiaans I. Eur J Hum Genet. 2019 Sep;27(9):1341-1350. doi: 10.1038/s41431-019-0410-9.  
  https://www.nature.com/articles/s41431-019-0410-9
• Mei 2019: Feasibility of couple-based expanded carrier screening offered by general practitioners. Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, Abbott KM, Ranchor AV, Diemers AD, van Langen IM. Eur J Hum Genet. 2019 May;27(5):691-700. doi: 10.1038/s41431-019-0351-3. 
   https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462008/
• Mei 2019: A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale. Voorwinden JS, Plantinga M, Krijnen W, Ausems M, Knoers N, Velthuizen M, Birnie E, Lucassen AM, van Langen IM, Ranchor AV. Eur J Hum Genet. 2019 May;27(5):681-690. doi: 10.1038/s41431-018-0318-9. 
  https://www.nature.com/articles/s41431-018-0318-9
• April 2019: Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views. Plantinga M, Birnie E, Schuurmans J, Buitenhuis AH, Boersma E, Lucassen AM, Verkerk MA, van Langen IM, Ranchor AV. Prenat Diagn. 2019 Apr;39(5):369-378. doi: 10.1002/pd.5437  
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593986/
• Februari 2019: Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, Hawkins N, Halbersma-Konings TF, Jackson L, Kayserili H, Kelly SE, Lucassen AM, Mendes Á, Rial-Sebbag E, Stefánsdóttir V, Turnpenny PD, van El CG, van Langen IM, Cornel MC, Forzano F; European Society of Human Genetics. Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1.  
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336881/

• November 2018: Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. Herkert JC, Abbott KM, Birnie E, Meems-Veldhuis MT, Boven LG, Benjamins M, du Marchie Sarvaas GJ, Barge-Schaapveld DQCM, van Tintelen JP, van der Zwaag PA, Vos YJ, Sinke RJ, van den Berg MP, van Langen IM, Jongbloed JDH. Genet Med. 2018 Nov;20(11):1374-1386. doi: 10.1038/gim.2018.9.  
  https://www.nature.com/articles/gim20189

• Juli 2018: Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, Halbersma-Konings TF, van Langen IM, Lucassen AM, Clarke AJ, Forzano F, Kelly SE. Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5  
  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018700/