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1 . Academic Journal
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
저자
by
Carolyn Horton
;
Ashley Cass
;
Blair R. Conner
;
Lily Hoang
;
Heather Zimmermann
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-6 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
저자
by
Tyler Landrith
;
Bing Li
;
Ashley A. Cass
;
Blair R. Conner
;
Holly LaDuca
, et al.
소스
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
Open Access (DOAJ)
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7 .
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
저자
by
Sumit Parikh
;
Virginia Kimonis
;
Peggy S. Eis
;
Moyra Smith
;
Kathy Hall
, et al.
소스
Full Text (BMJ Journals)
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7 .
Impact of RNA testing on cardiac variant interpretation and patient management
저자
by
Sitao Wu
;
Lior Jankelson
;
Larry A. Chinitz
;
Linda Borneman
;
Steven J. Fowler
, et al.
소스
HeartRhythm Case Reports
Full Text (Clinical Key)
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7 .
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
저자
by
Rachid Karam
;
Tina Pesaran
;
Phillip Gray
;
Pei Tsai
;
Adam C. Chamberlin
, et al.
소스
Genetics in Medicine
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7 .
Pathogenic duplications in tumor suppressor genes cause aberrant mRNA splicing
저자
by
Rachid Karam
;
Tina Pesaran
;
Marcy E. Richardson
;
Terra Brannan
;
Tamara McBride
, et al.
소스
Molecular Genetics and Metabolism
. 132:S33-S34
Web of Science
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7 .
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data
저자
by
Blair R. Conner
;
Holly LaDuca
;
Rachid Karam
;
Elizabeth C. Chao
;
Tina Pesaran
, et al.
소스
Molecular Case Studies
. 8:a006152
Open Access (OpenAIRE)
Scopus
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7 .
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
저자
by
Meagan Farmer
;
Brandon Smith
;
Kara N. Maxwell
;
Brigette Tippin-Davis
;
Julia Burdette
, et al.
소스
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
NPJ Precision Oncology
Open Access (OpenAIRE)
Scopus
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7 .
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer
저자
by
Blair R. Conner
;
Suzette Farber-Katz
;
Rachid Karam
;
Aaron Elliott
;
Jill S. Dolinsky
, et al.
소스
JAMA network open
. 2(10)
Open Access (OpenAIRE)
Scopus
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7 .
RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome
저자
by
Blair R. Conner
;
Rachid Karam
;
C. Richard Boland
;
Tyler Landrith
;
Felicia Hernandez
, et al.
소스
Gastroenterology
. 156(6)
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