Leiden University Scholarly Publications

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(1 - 15 of 15)

: Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

: Fully automatic cardiac four chamber and great vessel segmentation on CT pulmonary angiography using deep learning

: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

: Overlapping genetic architecture between Parkinson disease and melanoma

: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

: Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

: Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response

: Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

: Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

: Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

: The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length

: Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk

: A variant in FTO shows association with melanoma risk not due to BMI

: Genome-wide association study identifies three new melanoma susceptibility loci

: Melanocytic Nevi, Nevus Genes, and Melanoma Risk in a Large Case-Control Study in the United Kingdom