Florian Erger
9PUBLICATIONS
29CO-AUTHORS
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Publications (9)
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|Apr 09, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh
|Dec 03, 2024
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.Mert Karakaya, Iman Ragab, Vera Riehmer
|May 22, 2023
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.Florian Erger, Rajindra P Aryal, Björn Reusch
|Jul 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli
|Jun 26, 2020
cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA.Florian Erger, Deborah Nörling, Domenica Borchert
|Jun 13, 2018
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.Florian Erger, Karin Burau, Michael Elsässer
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Frequent Collaborators
2 joint publications
Bodo B Beck
2 joint publications
Clara Velmans
2 joint publications
Marc Hoemberg
2 joint publications
Vera Riehmer
2 joint publications
Boris Decarolis
2 joint publications
Iman Ragab
2 joint publications
Mert Karakaya
1 joint publications
Tzung-Chien Hsieh
1 joint publications
Marion Aubert Mucca
1 joint publications
Anne-Sophie Denommé-Pichon
