Targeted next-generation sequencingNext-generation sequencing-based genome diagnostics across clinical genetics centersHeterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityPrioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNext-generation sequencing-based genome diagnostics across clinical genetics centers
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Bert van der Zwaag
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van der Zwaag