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The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.Journal of the American Society of Nephrology : JASN|April 15, 2018
<i>NPHP1</i> (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRDRozemarijn Snoek, Jessica van Setten, Brendan J Keating, et al.Plos One|June 4, 2009
Gene-network analysis identifies susceptibility genes related to glycobiology in autismBert van der Zwaag, Lude Franke, Martin Poot, et al.Pediatric Nephrology (Berlin, Germany)|July 6, 2018
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathyMarijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, et al.Kidney International|October 22, 2015
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNayia Nicolaou, Sara L Pulit, Isaac J Nijman, et al.Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.Nephron|November 27, 2025
Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.European Journal of Human Genetics : EJHG|January 29, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, et al.Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.Pageof 7