Kerstin Kutsche

29PUBLICATIONS
50CO-AUTHORS
Autonomic nervous systemGene mappingNeurology and neuromuscular diseasesLiquid biopsiesMolecular evolution
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Publications (29)

|Aug 18, 2025
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Yousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio

|May 23, 2025
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.

Till Joscha Demal, Marco Sachse, Celia Metzlaff

|May 11, 2025
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Loisa Dana Bonde, Laura Hecher, Malik Alawi

|Mar 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Frederike L Harms, Christian Müller, Fanny Kortüm

|Nov 05, 2024
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Loisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif

|Jul 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady

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Frequent Collaborators

4 joint publications

Katta Mohan Girisha

3 joint publications

Frederike Leonie Harms

3 joint publications

Malik Alawi

2 joint publications

Fowzan S Alkuraya