Author
University Medical Center Hamburg-EppendorfORCID 0000-0003-4220-0978Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Jason Claus, Lauritz Schoof, Thomas S. Mir…·Yskert Von Kodolitsch
This study shows that late diagnosis of Marfan syndrome is linked to delayed aortic surgery and higher cardiovascular mortality.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann
The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.
Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber…·Davor Lessel
This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.
Padhraig Gormley, Mitja Kurki, Marjo Eveliina Hiekkala…·George McMahon
This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.
Edith Said, Jessica X. Chong, Maja Hempel…·Davor Lessel
The paper reports two individuals with GLE1 mutations surviving beyond the perinatal period, expanding the phenotype of LAAHD to include childhood survival.