Jasmin Lisfeld
Hamburg, HH, Germany
Last Updated: 09/26/2026
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Found 25 publications
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
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: June 20, 2025
Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia.
Journal: JIMD reports
Published: December 18, 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
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Journal: Genetics in medicine open
Published: August 29, 2023
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
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Journal: Neurogenetics
Published: January 30, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Journal: European journal of human genetics : EJHG
Published: July 07, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Journal: Human mutation
Published: September 24, 2021
Last Updated: 09/26/2026