Author

Kirstin Smith

University of Alabama at Birmingham

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

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Organism:human· 1

Frequent Co-Authors

Alice GardhamiD· 1 shared Amber Hogart BegtrupiD· 1 shared Caroline Fiona WrightiD· 1 shared Carrie A. Lahner· 1 shared Elena B. RieliD· 1 shared Elisabeth P. CarpenteriD· 1 shared Jan Fischer· 1 shared Janina SörmanniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice GardhamORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 1, 2022

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…·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.

30 citations

human

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