Claus-eric B. Ott
Berlin, BE 12203, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Preemptive immunotherapy for fetal acetylcholine receptor antibody disorder (FARAD): from recurrent pregnancy losses to a healthy infant - a case report.
Journal: Neuromuscular disorders : NMD
Published: August 20, 2025
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
The Charité protocol for surveillance, treatment and after-care management in women with Lynch syndrome.
Journal: Archives of gynecology and obstetrics
Published: March 12, 2025
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.
Journal: Frontiers in neuroscience
Published: August 29, 2024
A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass.
Journal: The oncologist
Published: March 21, 2024
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: July 19, 2023
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2023
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.
Journal: Journal of medical Internet research
Published: September 27, 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Journal: Communications biology
Published: November 15, 2021
A machine learning-based screening tool for genetic syndromes in children.
Journal: The Lancet. Digital health
Published: October 17, 2021
Last Updated: 09/26/2026