Author

David H. Viskochil

University of UtahORCID 0000-0001-5364-3366Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Assay:ATAC-seq· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Aditi Shah ParikhiD· 1 shared Aditya Ekawade· 1 shared Alan S. MaiD· 1 shared Alexandra C Martin-GearyiD· 1 shared Alicia LjungdahliD· 1 shared Alison G. ComptoniD· 1 shared Alistair N. Ward· 1 shared Alma Kuechler· 1 shared

Activity by Year

2021-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 14 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aditi Shah ParikhORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 24, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

23 citationstop 3%

humanstatistical model

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Genetic & Genomic MedicineNaturePeer-reviewedJul 11, 2024

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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

156 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicineScientific ReportsPeer-reviewedOct 13, 2021

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

Tonya Di Sera, Matt Velinder, Alistair N. Ward…·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.

15 citations

whole-exome sequencingwhole-genome sequencing

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