Klaus Dieterich

27PUBLICATIONS
98CO-AUTHORS
Genomics and transcriptomicsGene mappingEpigenetics (incl. genome methylation and epigenomics)Liquid biopsiesCellular nervous system
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Publications (27)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|Feb 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Alicia Coudert, Pauline Le Tanno, William Dufour

|Apr 03, 2025
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.

Shahrzad Nematollahi, Reggie C Hamdy, Harold van Bosse

|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

|Mar 06, 2025
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.

Paloma Parra-Díaz, Arnaud Monteil, Daniel Calame

|Feb 05, 2025
Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos Syndrome.

Xavier Jeunemaitre, Elie Mousseaux, Michael Frank

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Frequent Collaborators

5 joint publications

Noémi Dahan-Oliel

4 joint publications

Shahrzad Nematollahi

3 joint publications

Pauline Le Tanno

2 joint publications

John Rendu