Author

Albert David

Centre Hospitalier Universitaire de Nantes

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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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bertrand IsidoriD· 2 shared Boris KereniD· 2 shared Christèle DubourgiD· 2 shared Cyril MignotiD· 2 shared Laurence Olivier FaivreiD· 2 shared Laurence Perrin· 2 shared Mélanie FradiniD· 2 shared Sandrine PassemardiD· 2 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bertrand IsidorORCID

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2 papers

Recent·Most cited

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand, Marie Vincent, Maria del Mar Muñiz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Élise Schaefer, Mathilde Nizon, Bénédicte Gérard, Marc Joel Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Bürglen, , Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetic & Genomic Medicine

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, , Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

bioRxiv · Mar 18, 2017 · PreprintGenetics