The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status
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Reproductive Sciences, 2023, vol. 30, p.270-282
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder
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European Journal of Pediatrics, 2023, vol. 182, p.2683-2692
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing
Lisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N Bekker, Caroline J Bax, Mijntje J Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S den Hollander, Karin E M Diderich, Brigitte H W Faas, Ilse Feenstra, Attie T J I Go, Mariëtte J V Hoffer, Marieke Joosten, Fenne L Komdeur, Klaske D Lichtenbelt, Maria P Lombardi, Marike G Polak, Fernanda S Jehee, Heleen Schuring-Blom, Servi J C Stevens, Malgorzata I Srebniak, Ron F Suijkerbuijk, Gita M Tan-Sindhunata, Karuna R M van der Meij, Merel C van Maarle, Vivian Vernimmen, Shama L van Zelderen-Bhola, Nicolien T van Ravesteyn, Maarten F C M Knapen, Merryn V E Macville, Robert-Jan H Galjaard,
American Journal of Human Genetics, 2022, vol. 109, p.1140-1152
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, Eleanor G Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J Holwerda, Koen van Gassen, Richard H van Jaarsveld
Human mutation, 2022, vol. 43, p.1844-1851
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies
Catharina J Heesterbeek, Sietse M Aukema, Robert-Jan H Galjaard, Elles M J Boon, Malgorzata I Srebniak, Katelijne Bouman, Brigitte H W Faas, Lutgarde C P Govaerts, Mariëtte J V Hoffer, Nicolette S den Hollander, Klaske D Lichtenbelt, Merel C van Maarle, Lisanne van Prooyen Schuurman, Maartje C van Rij, G Heleen Schuring-Blom, Servi J C Stevens, Gita Tan-Sindhunata, Masoud Zamani Esteki, Christine E M de Die-Smulders, Vivianne C G Tjan-Heijnen, Lidewij Henneman, Erik A Sistermans, Merryn V E Macville,
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2022, vol. 40, p.2426-2435
