Author

Diana Rodriguez

Sorbonne UniversitéORCID 0000-0001-6594-1985Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alexandra AfenjariD· 2 shared Lydie BürgleniD· 2 shared A. James BarkovichiD· 1 shared Alban C. ZiegleriD· 1 shared Allan Micheil InnesiD· 1 shared Amy Sarah Kimball· 1 shared Annelise Yoo Mah-SomiD· 1 shared Ashley L. Lennox· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra AfenjarORCID

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2 papers

Recent·Most cited

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie Falkenberg Smeland, Marc Planes, Kévin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, , Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna V. Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bezieau, , Elliott H. Sherr

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Neuron · Mar 4, 2020Peer-reviewedGenetics