Author

Rowenna Roberts

Great Ormond Street Hospital for Children NHS Foundation Trust

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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Genetics· 1

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Organism:zebrafish· 1

Frequent Co-Authors

Abbey A. ScottiD· 1 shared Alistair Duncan CalderiD· 1 shared Alyssa A. Tran· 1 shared Aurélie Clément· 1 shared Bernardo Blanco‐SáncheziD· 1 shared Brendan LeeiD· 1 shared Brenna A. Tremp· 1 shared Brian Dawson· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abbey A. ScottORCID

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1 paper

Recent·Most cited

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Ronit Marom, Lindsay Catherine Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain, Ingo Grafe, Daryl A. Scott, Jill Anne Rosenfeld, Vernon Reid Sutton, Marwan S. Shinawi, Ghayda Mirzaa, Catherine J DeVile, Rowenna Roberts, Alistair Duncan Calder, , Brendan Lee

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

bioRxiv · Sep 14, 2020 · PreprintGenetics