Author

Carrie A. Lahner

Mayo Clinic

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Alice GardhamiD· 1 shared Allan Micheil InnesiD· 1 shared Amber Hogart BegtrupiD· 1 shared Ana S.A. CoheniD· 1 shared Benjamin CognéiD· 1 shared Bernt PoppiD· 1 shared Bonnie R. SullivaniD· 1 shared Boris KereniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice GardhamORCID

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2 papers

Recent·Most cited

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu, Matheus Vernet Machado Bressan Wilke, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen, Susan Starling Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie‐José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, , Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

medRxiv · Apr 24, 2024 · PreprintGenetic & Genomic Medicine

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Janina Sörmann, Marcus Schewe, Peter Proks, Thibault R. H. Jouen-Tachoire, Shanlin Rao, Elena B. Riel, Katherine E. Agre, Amber Hogart Begtrup, John Dean, Maria D. Descartes, Jan Fischer, Alice Gardham, Carrie A. Lahner, Paul R. Mark, Srikanth Muppidi, , Stephen J. Tucker

The paper identifies de novo gain-of-function mutations in KCNK3 causing a developmental disorder with sleep apnea by disrupting X-gating of TASK-1 channels.

Nature Genetics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine