Author
Translational Genomics Research InstituteORCID 0000-0002-4905-1840Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias
This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.
Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi
The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore…·Stephen Francis Kingsmore
GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.
Eric Frankel, Julius Dodson, Megan Sharifi…·Sampathkumar Rangasamy
The paper identifies genes associated with Rett syndrome-like (RTT-L) phenotype through whole exome sequencing and protein-protein interaction network analysis, revealing shared pathways with classical Rett syndrome.
Wayne M. Jepsen, Matt D. De Both, Ashley L. Siniard…·Matthew J. Huentelman