Karina da Costa Silveira

6PUBLICATIONS
17CO-AUTHORS
Aerospace structuresMolecular imaging (incl. electron microscopy and neutron diffraction)Epigenetics (incl. genome methylation and epigenomics)Genetic immunology
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Publications (6)

|Apr 14, 2025
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis.

Parker Wengryn, Karina da Costa Silveira, Connor Oborn

|Aug 30, 2024
Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.

Karina C Silveira, Anastasia Ambrose, Taryn Athey

|Jun 26, 2024
Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.

Parker Wengryn, Felicity Fenrich, Karina da Costa Silveira

|Oct 17, 2023
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences.

Maria Dora Jazmin Lacarrubba-Flores, Karina da Costa Silveira, Cynthia Silveira

|Sep 27, 2023
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.

Karina C Silveira, Inara Chacon Fonseca, Connor Oborn

|Oct 27, 2022
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar

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Frequent Collaborators

3 joint publications

Connor Oborn

3 joint publications

Parker Wengryn

3 joint publications

Alexander Beke

3 joint publications

Peter Kannu