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Plos One|September 6, 2023
Identification of candidate genes for developmental colour agnosia in a single unique familyTanja C W Nijboer, Ellen V S Hessel, Gijs W van Haaften, et al.
Plos One|December 17, 2020
Erratum: Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity centerLotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, et al.
Human Mutation|June 19, 2013
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratoriesMarjan M Weiss, Bert Van der Zwaag, Jan D H Jongbloed, et al.
Iscience|June 10, 2025
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamicsIrena J J Muffels, Theodore Carter, Holger Rehmann, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Plos One|May 9, 2020
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity centerLotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, et al.
The Journal of Clinical Investigation|November 2, 2012
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndromeNayia Nicolaou, Coert Margadant, Sietske H Kevelam, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 11, 2020
Genetics-first approach improves diagnostics of ESKD patients <50 years oldRozemarijn Snoek, Richard H van Jaarsveld, Tri Q Nguyen, et al.
British Journal of Haematology|September 30, 2022
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature reviewMyrthe J van Dijk, Brigitte A van Oirschot, Manon C Stam-Slob, et al.
Haematologica|June 2, 2016
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblastsTimothy J Satchwell, Amanda J Bell, Bethan R Hawley, et al.
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