Katja Eggermann
Aachen, NW, Germany
Last Updated: 09/26/2026
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Found 34 publications
Exome and Genome Sequencing for the Diagnosis of Rare Diseases.
Journal: Deutsches Arzteblatt international
Published: March 19, 2026
Functional impact of the TRPA1 H560D variant on neuropathic pain.
Journal: Pain
Published: January 24, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).
Journal: Prenatal diagnosis
Published: November 22, 2025
Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain.
Journal: Neuropediatrics
Published: April 28, 2025
Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction.
Journal: The Journal of general physiology
Published: October 12, 2024
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Journal: Journal of neuromuscular diseases
Published: July 10, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Journal: Brain : a journal of neurology
Published: April 26, 2023
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Journal: Journal of neuromuscular diseases
Published: December 04, 2022
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
Journal: Genes
Published: November 07, 2022
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Journal: Journal of neuromuscular diseases
Published: July 18, 2022
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
Journal: Journal of neurology
Published: May 31, 2022
Last Updated: 09/26/2026