Author

Edward J. Lose

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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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1

Frequent Co-Authors

Candice R. FinnilaiD· 2 shared Carla A. RichiD· 2 shared David E. Gray· 2 shared Elizabeth Martina BebiniD· 2 shared Gregory M. CooperiD· 2 shared Gregory S. BarshiD· 2 shared Kelly M. EastiD· 2 shared Kevin M. BowlingiD· 2 shared

Activity by Year

2016-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Candice R. FinnilaORCID

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Author profile →

3 papers

Recent·Most cited

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Michelle L. Thompson, Candice R. Finnila, Kevin M. Bowling, Kyle Bertram Brothers, Matthew B. Neu, Michelle D. Amaral, Susan M. Hiatt, Kelly M. East, David E. Gray, James M.J. Lawlor, Whitley V. Kelley, Edward J. Lose, Carla A. Rich, Shirley Simmons, Shawn Levy, , Gregory M. Cooper

The paper reports secondary findings in parents of children with developmental delay through genomic sequencing, identifying clinically relevant variants in 9% of participants.

Genetics in Medicine · Apr 12, 2018Peer-reviewedGenomics

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle Bertram Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, , Gregory M. Cooper

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.

Genome Medicine · May 17, 2017Peer-reviewedGenomics

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

Frederike Leonie Harms, Katta Mohan Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, , Kerstin Kutsche

The paper identifies EBF3 mutations in individuals with intellectual disability, ataxia, and facial dysmorphism, showing they impair transcriptional regulation and neuronal development.

bioRxiv · Aug 3, 2016 · PreprintGenetics