Author

Deborah E. Seifert

Case Western Reserve University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre GuilhemiD· 1 shared Angélique Bibimbou· 1 shared Carine Le GoffiD· 1 shared Caroline MichotiD· 1 shared Cathérine BoileauiD· 1 shared Constance Beyer· 1 shared Dianna M. MilewicziD· 1 shared Dieter Peter ReinhardtiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre GuilhemORCID

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1 paper

Recent·Most cited

Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)

Júlia Huguet Herrero, Pauline Arnaud, Angélique Bibimbou, Deborah E. Seifert, Zakaria Mougin, Louise Benarroch, Caroline Michot, Yline Capri, Lyse Ruaud, Sophie Dupuis‐Girod, Alexandre Guilhem, Constance Beyer, Fanny Bajolle, Oliver Milleron, Guillaume Jondeau, , Carine Le Goff

The paper identifies loss-of-function variants in ADAMTS6 in patients with vascular and neurodevelopmental disorders, linking them to connective tissue defects and proposing a new syndrome called CHANS.

medRxiv · May 2, 2025 · PreprintGenetic & Genomic Medicine