Joseph T Shieh
21PUBLICATIONS
90CO-AUTHORS
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Publications (21)
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|Oct 24, 2024
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.Matthew A Shear, Monica Penon-Portmann, Joseph T Shieh
|Jul 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.Eva Vanbelleghem, Tim Van Damme, Aude Beyens
|May 26, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil
|Jun 27, 2022
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.David R Blair, Thomas J Hoffmann, Joseph T Shieh
|Jun 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki
|May 18, 2022
Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.Schuyler Tong, W Patrick Devine, Joseph T Shieh
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Frequent Collaborators
5 joint publications
Monica Penon-Portmann
4 joint publications
Renata C Gallagher
3 joint publications
Anne Slavotinek
2 joint publications
Jeremy Michelson
2 joint publications
Allison Tam
2 joint publications
Teresa N Sparks
2 joint publications
Eva Vanbelleghem
2 joint publications
Tim Van Damme
2 joint publications
Julie De Backer
2 joint publications
Ilse Meerschaut
