Author

Meredith Park

Boston Children's Hospital

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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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 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 Annapurna PoduriiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

A. Micheil InnesORCID

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2 papers

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

Molecular map of GNAO1-related disease phenotypes and reactions to therapy

Ivana Mihalek, Jeff L. Waugh, Meredith Park, Saima N. Kayani, Annapurna Poduri, Olaf A. Bodamer

This paper models GNAO1 mutations' effects on GPCR signaling to explain disease phenotypes and therapy responses in neurological disorders.

bioRxiv · Dec 9, 2020 · PreprintMolecular Biology