Author

Tomasz Kmieć

Children's Memorial Health InstituteORCID 0000-0001-6958-6239Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:C. elegans· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Abhishek Anil DubeyiD· 1 shared Agnieszka PollakiD· 1 shared Joanna KosińskaiD· 1 shared Karolina RutkowskaiD· 1 shared Magdalena KrygieriD· 1 shared Małgorzata RydzanicziD· 1 shared Maria Mazurkiewicz‐BełdzińskaiD· 1 shared Natalia A. SzulciD· 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 paperGenetics

Abhishek Anil DubeyORCID

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1 paper

Recent·Most cited

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs, and limb ataxia

Abhishek Anil Dubey, Magdalena Krygier, Natalia A. Szulc, Karolina Rutkowska, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Tomasz Kmieć, Maria Mazurkiewicz‐Bełdzińska, Wojciech Pokrzywa, Rafał Płoski

The paper identifies a de novo FEM1C variant linked to neurodevelopmental disorder and shows its pathogenicity using in vitro and in vivo models.

bioRxiv · Apr 24, 2022 · PreprintGenetics