Author
Miami Children's HospitalORCID 0000-0003-4290-5118Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser
This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.
Michael Robert Murphy, Mythily Ganapathi, Esther R. Rotlevi…·Xuebing Wu
The paper identifies a pathogenetic mechanism for RPL3L-linked dilated cardiomyopathy, showing that gain-of-toxicity variants in muscle-specific ribosomes cause severe neonatal heart failure.
Sonja Neuser, Barbara Brechmann, Gali Heimer…·Darius Ebrahimi‐Fakhari
The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.