Author

Loréline Genschik

Centre National de la Recherche Scientifique

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Genetic & Genomic Medicine· 1

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

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Albert David· 1 shared Alice GoldenbergiD· 1 shared Allan BayatiD· 1 shared Amélie PitoniD· 1 shared Anne‐Marie GuerrotiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared Bénédicte DemeeriD· 1 shared

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2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albert David

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedAug 3, 2021

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

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand…·Amélie Piton

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

39 citations

humanDNA methylation

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