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Blair R Conner

4PUBLICATIONS
22CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Genetic immunologyMedical molecular engineering of nucleic acids and proteinsMolecular targets
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Journal

Publications (4)

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|Oct 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> 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 <i>AK2</i>.

Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles

|Jun 11, 2020
<i>NUBPL</i> 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

Frequent Collaborators

3 joint publications

Rachid Karam

2 joint publications

Sitao Wu

2 joint publications

Tina Pesaran

1 joint publications

Susan Domchek

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