Author

Geoffrey Minard

Centre Hospitalier Universitaire de Reims

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

Biology Disciplines

Click to filter author papers

Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alban C. ZiegleriD· 1 shared Antoinette PerlatiD· 1 shared Isabelle JéruiD· 1 shared L. Olory-GarnoteliD· 1 shared Laurence CuissetiD· 1 shared Maud TusseauiD· 1 shared Nicola T. WoodiD· 1 shared Philip CoheniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alban C. ZieglerORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Discovery and functional analysis of a novel ALPK1 variant causing ROSAH syndrome

Tom Snelling, L. Olory-Garnotel, Isabelle Jéru, Maud Tusseau, Laurence Cuisset, Antoinette Perlat, Geoffrey Minard, Thibaut Benquey, Yann Maucourant, Nicola T. Wood, Philip Cohen, Alban C. Ziegler

The paper identifies a new ALPK1 variant causing ROSAH syndrome and shows it has altered activation by different metabolites, explaining autoinflammatory episodes.

bioRxiv · Sep 13, 2024 · PreprintGenetics