German Demidov
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 53 publications
Advancing the diagnosis of rare neuromuscular and neurological diseases through the collaborative Solve-RD research framework.
Journal: Journal of neuromuscular diseases
Published: July 15, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.
Journal: JCO precision oncology
Published: April 16, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 27, 2026
Copy Number Analysis in Congenital Nevi: Concordance and Diagnostic Limitations of aCGH, sWGS, and Methylation Sequencing.
Journal: Pigment cell & melanoma research
Published: March 04, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Journal: Nature genetics
Published: January 06, 2026
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Journal: European journal of human genetics : EJHG
Published: April 08, 2025
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Last Updated: 09/26/2026