Author

Richard Dineen

Rush University Medical Center

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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Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:protein structure prediction· 1

Frequent Co-Authors

Aida Bytyci TelegrafiiD· 1 shared Aishwarya ArjunaniD· 1 shared Alica M. GoldmaniD· 1 shared Alicia Boughton· 1 shared Allison L. GoetschiD· 1 shared Amélie PitoniD· 1 shared Andrea M. LewisiD· 1 shared Angélique QuartieriD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Aida Bytyci TelegrafiORCID

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Author profile →

2 papers

Recent·Most cited

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raul Torres, Rotem Ben‐Shachar, Jodi D. Hoffman, Brad Angle, Robert Nathan Slotnick, Brittany N. Simpson, Andrea M. Lewis, Pilar L. Magoulas, Kelly Bontempo, Jeanine Schulze, Jennifer M. Tarpinian, Jessica Bucher, Richard Dineen, , Katherine Johansen Taber

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

Prenatal Diagnosis · May 31, 2020Peer-reviewedGenetic & Genomic Medicine

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features.

Francesca Mattioli, Gaëlle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Frédéric Tran Mau‐Them, Chantal Sellier, María-Victoria Hinckelmann, Alica M. Goldman, Aida Bytyci Telegrafi, Alicia Boughton, Candace Gamble, Sébastien Moutton, Angélique Quartier, Nolwenn Jean‐Marçais, , Amélie Piton

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.

bioRxiv · Dec 4, 2019 · PreprintGenetics