Author

Dian Donnai

Manchester Academic Health Science Centre

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

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre ReymondiD· 2 shared Nicolas GuexiD· 2 shared Norine VoisiniD· 2 shared Sofia DouzgouiD· 2 shared A. Kuechler· 1 shared A. Paul BevaniD· 1 shared A. Petersen· 1 shared A. Vaknin-Dembinsky· 1 shared

Activity by Year

2019-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Alexandre ReymondORCID

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Author profile →

3 papers

Recent·Most cited

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Manickavasagam Amudhavalli, Siddarth Banka, Frederique Sloan Bena, Bruria Ben‐Zeev, Vincent Robert Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, , Lisenka E.L.M. Vissers

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

The American Journal of Human Genetics · Jan 28, 2021Peer-reviewedGenetics

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie Fremstad Rustad, Natasha J. Brown, Dawn Earl, Boris Keren, Olga A. Levchenko, Sinje Geuer, David J. Amor, Alfredo Brusco, Elizabeth Martina Bebin, Gerarda Cappuccio, Joel Charrow, , Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

bioRxiv · Jul 17, 2019 · PreprintGenetics

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, , Neeti Ghali

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

bioRxiv · Mar 7, 2019 · PreprintGenetics