Barbara N Pusey - JoVE Visualize

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BMC Medical Genomics|August 29, 2016

Explorations to improve the completeness of exome sequencingChen Du, Barbara N Pusey, Christopher J Adams, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.

Orphanet Journal of Rare Diseases|May 16, 2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.

American Journal of Human Genetics|March 25, 2023

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.

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Showing results (1-10 of 4) with videos related to

Sort By:

Pageof 1

BMC Medical Genomics|August 29, 2016

Explorations to improve the completeness of exome sequencingChen Du, Barbara N Pusey, Christopher J Adams, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.

Orphanet Journal of Rare Diseases|May 16, 2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.

American Journal of Human Genetics|March 25, 2023

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.

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