Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

Autor van Maarle, Merel C, Stouthard, Marlies E A, de Mheen, Perla J Marang-van, Klazinga, Niek S, Bonsel, Gouke J
Vydáno 2002

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Autor Holtkamp, Kim C A, van Maarle, Merel C, Schouten, Maria J E, Dondorp, Wybo J, Lakeman, Phillis, Henneman, Lidewij
Vydáno v Eur J Hum Genet (2016)

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

Autor Holtkamp, Kim C.A., Mathijssen, Inge B., Lakeman, Phillis, van Maarle, Merel C., Dondorp, Wybo J., Henneman, Lidewij, Cornel, Martina C.
Vydáno v Eur J Public Health (2017)

With expanded carrier screening, founder populations run the risk of being overlooked

Autor Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Vydáno v J Community Genet (2017)

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Autor Mathijssen, Inge B., Holtkamp, Kim C. A., Ottenheim, Cecile P. E., van Eeten-Nijman, Janneke M. C., Lakeman, Phillis, Meijers-Heijboer, Hanne, van Maarle, Merel C., Henneman, Lidewij
Vydáno v Eur J Hum Genet (2018)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

Autor van Schendel, Rachèl V., Page‐Christiaens, G. C. (Lieve), Beulen, Lean, Bilardo, Catia M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
Vydáno v Prenat Diagn (2016)

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

Autor van Schendel, Rachèl V., Page-Christiaens, G. C. M. Lieve, Beulen, Lean, Bilardo, Caterina M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H. W., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij
Vydáno v J Genet Couns (2017)

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

Autor Ferrer, Christina M., Alders, Marielle, Postma, Alex V., Park, Seonmi, Klein, Mark A., Cetinbas, Murat, Pajkrt, Eva, Glas, Astrid, van Koningsbruggen, Silvana, Christoffels, Vincent M., Mannens, Marcel M.A.M., Knegt, Lia, Etchegaray, Jean-Pierre, Sadreyev, Ruslan I., Denu, John M., Mostoslavsky, Gustavo, van Maarle, Merel C., Mostoslavsky, Raul
Vydáno v Genes Dev (2018)

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Autor Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., van Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, van Zelst‐Stams, Wendy A. G.
Vydáno v Prenat Diagn (2020)

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

Autor Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y, Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T, Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie
Vydáno 2012

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Autor Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Vydáno v Genet Med (2018)

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Autor Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos
Vydáno 2010

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Autor Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Vydáno 2013

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Autor van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
Vydáno v Am J Hum Genet (2019)