Author

Kelly Minks

Ambry Genetics (United States)

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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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

A. Micheil InnesiD· 1 shared Alice GoldenbergiD· 1 shared Amélie PitoniD· 1 shared Amy Dameron· 1 shared André ReisiD· 1 shared Ann J. Lewis· 1 shared Anna RuiziD· 1 shared Audrey SchalkiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

A. Micheil InnesORCID

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1 paper

Recent·Most cited

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman, Karen E. Wain, Zöe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombre, Chloé Angelini, Vincent Michaud, Julien Van‐Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, , Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Journal of Medical Genetics · Dec 15, 2021Peer-reviewedGenetics