Author

Jim Bale

University of Utah

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:software / tool· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ashley AndrewsiD· 3 shared John C. CareyiD· 3 shared Lorenzo D. BottoiD· 3 shared Alan H. BeggsiD· 2 shared Anita E. BeckiD· 2 shared Anna Bican· 2 shared Ashok BalasubramanyamiD· 2 shared Beverly Berg-Rood· 2 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ashley AndrewsORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Tonya Di Sera, Matt Velinder, Alistair N. Ward, Yi Qiao, Stephanie J. Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David H. Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey Lynn Clardy, Ashley Andrews, , Gábor Marth

gene.iobio is a web tool that enables clinicians and researchers to interactively analyze and prioritize genomic variants for clinical diagnosis and patient care.

Scientific Reports · Oct 13, 2021Peer-reviewedGenetic & Genomic Medicine

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill Anne Rosenfeld, Erin E. Torti, Chad R. Haldeman‐Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julián A. Martínez-Agosto, Christina G.S. Palmer, , Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

Genetics in Medicine · Apr 8, 2021Peer-reviewedGenetic & Genomic Medicine

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick, Jill Anne Rosenfeld, Katherine M. Mackenzie, Laurie A. Robak, Matthew Thomas Wheeler, Lindsay Catherine Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, , Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The American Journal of Human Genetics · Mar 19, 2020Peer-reviewedGenetics