Amanda R Clause
4PUBLICATIONS
40CO-AUTHORS

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Publications (4)
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|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Ilaria Parenti, Alina Hesters, Marta Gil-Salvador
|Apr 16, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.Stephanie M Hunn, Lindsay N Alfano, Aileen Jones
|Aug 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.Shruthi Mohan, Shannon McNulty, Courtney Thaxton
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Frequent Collaborators
2 joint publications
Stephanie M Hunn
2 joint publications
Lindsay N Alfano
2 joint publications
Doris G Leung
2 joint publications
Peter B Kang
1 joint publications
Svetlana Gorokhova
1 joint publications
Zhiyv Niu
1 joint publications
Marco Savarese
1 joint publications
Giorgio Tasca
1 joint publications
Ilaria Parenti
1 joint publications
Alina Hesters