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Germline NPAT inactivating variants as cause of hereditary colorectal cancer

Expanding the phenotypic spectrum of <i>NOTCH1</i> variants: clinical manifestations in families with congenital heart disease

Comparison of the ABC and ACMG systems for variant classification

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

Catching the next wave? The relationship between UNESCO and developments in genomics

Loss of heterozygosity in <i>CCM2</i> cDNA revealing a structural variant causing multiple cerebral cavernous malformations

Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort

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