Karina da Costa Silveira (Karina C Silveira)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Gold Nanoparticles

Top Venues

American journal of medical genetics. Part A

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

This page only lists publications with an associated author ORCID identifier.

Publications

Karina da Costa Silveira, Anastasia Ambrose, Taryn Athey, Sherryl Taylor, Saadet Mercimek-Mahmutoglu, Peter Kannu
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype. Clinical genetics (2024)
Parker Wengryn, Felicity Fenrich, Karina da Costa Silveira, Connor Oborn, Shuji Mizumoto, Alexander Beke, Carrie-Lynn Soltys, Shuhei Yamada, Peter Kannu
Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (13) (2024)
Karina da Costa Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise Pontes Cavalcanti, Peter Kannu
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence. Human genetics (2023)
Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira, Benilton S Carvalho, Denise Pontes Cavalcanti
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences. American journal of medical genetics. Part A (2023)
Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. Genes 13 (10) (2022)