Henny H. Lemmink - Publications

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

Journal: Journal of dermatological science

Published: June 13, 2025

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

Journal: Journal of dermatological science

Published: April 01, 2025

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

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: March 11, 2025

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

Journal: International journal of molecular sciences

Published: February 24, 2025

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

Journal: NAR genomics and bioinformatics

Published: January 30, 2025

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

Journal: HGG advances

Published: July 18, 2024

270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.

Journal: Neuromuscular disorders : NMD

Published: January 06, 2024

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

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: September 08, 2023

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

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: July 26, 2022

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry.

Journal: The British journal of dermatology

Published: April 25, 2022

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.

Journal: International journal of molecular sciences

Published: October 14, 2021

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

Journal: Frontiers in genetics

Published: September 24, 2021