Author

Amanda R. Clause

Illumina (United States)ORCID 0000-0002-2078-7280Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:database / resource· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Akanchha KesariiD· 2 shared Brooke Palus· 2 shared Courtney ThaxtoniD· 2 shared Emma Owens· 2 shared Marwa ElnagheebiD· 2 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Akanchha KesariORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 30, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

2 citationstop 3%

humanDNA methylation

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Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

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GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedAug 30, 2024

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton…·Conrad Chris Weihl

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

4 citations

humanstatistical model

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