Cited by 481Open Access
Maastricht University Medical Centre
Publishes on Retinal Development and Disorders, Telomeres, Telomerase, and Senescence, Genomics and Rare Diseases. 9 papers and 937 citations.
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= 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.