Associated Papers
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40590205 (PubMed )
Supplement: NIHMS2119735-supplement-supplement.docx
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P13
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
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