Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder
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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
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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
NANS-CDG
Bibiche den Hollander, Anne Rasing, Merel A Post, Willemijn M Klein, Machteld M Oud, Marion M Brands, Lonneke de Boer, Udo F H Engelke, Peter van Essen, Sabine A Fuchs, Charlotte A Haaxma, Brynjar O Jensson, Leo A J Kluijtmans, Anna Lengyel, Klaske D Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E H Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L M Coene, Michèl A Willemsen, Dirk J Lefeber, Clara D M van Karnebeek
Frontiers in Neurology, 2021, vol. 12
