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Publications

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

Molgenis Vip: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods

Multigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

Novel ATP2C1 genetic variants in a Dutch cohort of patients with Hailey-Hailey disease

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: Analysis of clinical outcome and tumour characteristics in the Dutch EB Registry

Press/media

Asuragen’s Lab Test Can Speed Up Diagnosis of SMA Carriers, Patients