Author
Nationwide Children's HospitalORCID 0000-0002-8407-8942Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Jacqueline S. Penaloza, Blythe Moreland, Jeff Gaither…·Peter White
This study identifies lncRNA candidate genes associated with CNVs in CHD patients, revealing their significant role in heart development and disease.
Steven Grant Carlisle, Hasan Albasha, Héctor I. Michelena…·Siddharth K. Prakash
The paper identifies rare genomic copy number variants (CNVs) in early-onset bicuspid aortic valve (EBAV) cases, implicating new candidate genes like GATA4 and DSCAM in BAV pathogenesis.
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat
The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.
Sathiyanarayanan Manivannan, Sihem Darouich, Aïda Masmoudi…·Vidu Garg
The paper identifies a novel recessive frameshift variant in MYL2 causing severe infantile-onset HCM and shows molecular differences between recessive and dominant MYL2 variants.