Amanda R Clause

3PUBLICATIONS
30CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Gene mapping
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Publications (3)

|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

Peter B Kang

1 joint publications

Stephanie M Hunn

1 joint publications

Lindsay N Alfano

1 joint publications

Doris G Leung