Author
Children's Hospital of PhiladelphiaORCID 0000-0001-5077-693XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Emma K. Wiener, Rocío Rius, Carlos A Dominguez Gonzalez…·Adeline L. Vanderver
The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.
Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver
This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.
Rahi Patel, Rikhil Makwana, Carolina Christ…·Matthew T. Whitehead
This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.
Carlos A. Dominguez Gonzalez, Katrina M. Bell, Ramakrishnan Rajagopalan…·Danny E. Miller
The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.