Author

Rose Gelineau‐Morel

Children's Mercy HospitalORCID 0000-0002-7387-9082Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adam M. Walter· 1 shared Ahmed T. AbdelmoityiD· 1 shared Alyssa RustiD· 1 shared Ana S.A. CoheniD· 1 shared Ann C. ModrciniD· 1 shared Annapoorna Nair· 1 shared Ashley M. CooperiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron M. WengerORCID

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2 papers

Recent·Most cited

Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice

Kat Gemperli, Xinguo Lu, Keerthana Chintalapati, Alyssa Rust, Rishabh Bajpai, Nathan Suh, Joanna Blackburn, Rose Gelineau‐Morel, Michael C. Kruer, Dararat Mingbundersuk, Jennifer A. O’Malley, Laura S. Tochen, Jeff L. Waugh, Steve W. Wu, Timothy J. Feyma, , Bhooma R. Aravamuthan

Chronic excitation of striatal cholinergic interneurons in mice induces clinically-relevant dystonic leg adduction variability, supporting their role in dystonia and suggesting therapeutic targets.

bioRxiv · Jul 19, 2023 · PreprintNeuroscience

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan Manickavasagam Amudhavalli, John T. Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo A. Baybayan, Bradley Belden, Courtney Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, , Tomi Pastinen

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

Genetics in Medicine · Mar 16, 2022Peer-reviewedGenetic & Genomic Medicine