Cordula Knopp
Aachen, NW, Germany
Last Updated: 09/26/2026
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Found 32 publications
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Exome and Genome Sequencing for the Diagnosis of Rare Diseases.
Journal: Deutsches Arzteblatt international
Published: March 19, 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
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Brain malformations and seizures by impaired chaperonin function of TRiC.
Journal: Science (New York, N.Y.)
Published: October 31, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: May 09, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Journal: American journal of human genetics
Published: March 20, 2024
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Journal: Orphanet journal of rare diseases
Published: November 06, 2023
Last Updated: 09/26/2026