Blair R Conner
4PUBLICATIONS
22CO-AUTHORS
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Publications (4)
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|Oct 30, 2021
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.Felicia Hernandez, Blair R Conner, Marcy E Richardson
|Jun 14, 2020
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles
|Jun 11, 2020
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.Virginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean
|Mar 06, 2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.Tyler Landrith, Bing Li, Ashley A Cass
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Frequent Collaborators
3 joint publications
Rachid Karam
2 joint publications
Sitao Wu
2 joint publications
Tina Pesaran
1 joint publications
Susan Domchek
1 joint publications
Nichole A Morman
1 joint publications
Rebekah Krukenberg
1 joint publications
John Lee
1 joint publications
Julia Burdette
1 joint publications
Virginia Kimonis
1 joint publications
Sumit Parikh
