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1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

4. Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

7. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

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