Author

Jake Allen

Broad Institute

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

Frequent Co-Authors

Emily O’HeiriD· 2 shared Kirsten Ann DonaldiD· 2 shared A. Micheil InnesiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alfred Ngombo· 1 shared Alice GalviniD· 1 shared Alice GoldenbergiD· 1 shared Alicia R. MartiniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emily O’HeirORCID

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2 papers

Recent·Most cited

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Patricia Kipkemoi, Heesu Ally Kim, Björn U. Christ, Emily O’Heir, Jake Allen, Christina Anne Austin-Tse, Samantha M. Baxter, Harrison Brand, Sam Bryant, Nick Buser, Victoria Pattison de Menil, Emma Eastman, Serini Murugasen, Alice Galvin, Martha Z Kombe, , Elise Robinson

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

Neuron · Jul 17, 2023Peer-reviewedGenetic & Genomic Medicine

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