Blair R. Conner - Dissemin

All papers authored by Blair R. Conner

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2021 Felicia Hernandez, Blair R. Conner

, Marcy E. Richardson

, Holly LaDuca

, Elizabeth Chao

, Tina Pesaran

, Rachid Karam

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data

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This paper was not found in any repository, but could be made available legally by the author.

2020 Virginia Kimonis

, Rehab al Dubaisi, Andrew E. Maclean

, Kathy Hall, Lan Weiss, Alexander E. Stover, Philip H. Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh

, Blair R. Conner

, Sitao Wu, Anton N. Hasso, Daryl A. Scott

, Mary Kay Koenig and 7 other authors

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

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Shoji Ichikawa

, Susan Prockop

, Charlotte Cunningham-Rundles

, Travis Sifers

, Blair R. Conner

, Sitao Wu

, Rachid Karam

, Michael F. Walsh, Elise Fiala

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

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This paper is made freely available by the publisher.

Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner

, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek

, Nichole A. Morman

, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell and 38 other authors

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

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2019 Rachid Karam, Blair Conner

, Holly LaDuca, Kelly McGoldrick, Kate Krempely, Marcy E. Richardson, Heather Zimmermann, Stephanie Gutierrez, Patrick Reineke, Lily Hoang, Kyle Allen, Amal Yussuf, Suzette Farber-Katz, Huma Q. Rana, Samantha Culver and 10 other authors

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

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Lior Jankelson, Heather Zimmermann, Steven Fowler, Linda Borneman, Blair Conner

, Sitao Wu, Rachid Karam, Larry Chinitz, Marina Cerrone

Impact of RNA testing on cardiac variant interpretation and patient management

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Blair R. Conner

, Felicia Hernandez, Beth Souders, Tyler Landrith, C. Richard Boland, Rachid Karam

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome

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2018 Marcy E. Richardson, Hansook Chong, Wenbo Mu, Blair R. Conner

, Vickie Hsuan, Sara Willett, Stephanie Lam, Pei Tsai, Tina Pesaran, Adam C. Chamberlin, Min-Sun Park, Phillip Gray, Rachid Karam, Aaron Elliott

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

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2014 Marianna Alperin, Lori J. Tuttle, Blair R. Conner

, Danielle M. Dixon, Margie A. Mathewson, Samuel R. Ward, Richard L. Lieber

Comparison of pelvic muscle architecture between humans and commonly used laboratory species

Download from www.ncbi.nlm.nih.gov

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All papers authored by Blair R. Conner