Susanna Balcells
14PUBLICATIONS
19CO-AUTHORS
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Publications (14)
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|Feb 05, 2025
The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients.Jadin M Heilmann, April L Hall, Janet M Legare
|Dec 22, 2024
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.Lisa M Karger, Bryn D Webb, Lisa Edelmann
|May 02, 2024
An algorithm to identify patients aged 0-3 with rare genetic disorders.Bryn D Webb, Lisa Y Lau, Despina Tsevdos
|Sep 07, 2023
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.Ryan W Gates, Bryn D Webb, David A Stevenson
|Mar 07, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiency.Bryn D Webb, Sara M Nowinski, Ashley Solmonson
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Frequent Collaborators
2 joint publications
Bruce D Gelb
1 joint publications
Aida Telegrafi
1 joint publications
Leah Fleming
1 joint publications
Gunnar Houge
1 joint publications
Julie E Hoover-Fong
1 joint publications
Francesco Bruni
1 joint publications
Daria Diodato
1 joint publications
Lisa Satlin
1 joint publications
Pankaj Prasun
1 joint publications
Ashley Solmonson