Author

Jordann Smak

National Cancer InstituteORCID 0000-0002-5143-0196Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alysia Kern LovgreniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Christina Anne Austin-TseiD· 1 shared Gianluca Arauz‐GarofaloiD· 1 shared Grace E. VanNoyiD· 1 shared Lluís PalenzuelaiD· 1 shared Lynn S. PaisiD· 1 shared Malika SudiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alysia Kern LovgrenORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 22, 2023

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak…·Travis H. Stracker

The paper identifies a de novo TLK1 mutation linked to neurodevelopmental disorder and immunodeficiency, showing impaired kinase activity and altered cytokine responses.

1 citation

humanwhole-exome sequencing

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