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1 . Academic Journal
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
저자
by
John Michael O. Ranola
;
Carolyn Horton
;
Tina Pesaran
;
Shawn Fayer
;
Lea M. Starita
, et al.
소스
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes
저자
by
Nihat B. Agaoglu
;
Brittany L. Bychkovsky
;
Carolyn Horton
;
Min-Tzu Lo
;
Linda Polfus
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101829- (2024)
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7 . Academic Journal
P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing
저자
by
Sami Belhadj
;
Felicia Hernandez
;
Terra Brannan
;
Colin Young
;
Jesus Ramirez Castano
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100956- (2024)
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7 . Academic Journal
P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
저자
by
Deborah Ritter
;
Chansonette Badduke
;
Michael Anderson
;
Arpad Danos
;
Kurston Doonanco
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100984- (2024)
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7 . Academic Journal
P644: Unlocking the code: When SpliceAI falls short in variant assessment
저자
by
Jessica Grzybowski
;
Meghan Towne
;
Brooklynn Gasser
;
Melissa Samons
;
Carolyn Horton
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101550- (2024)
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7 . 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)
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7 . Academic Journal
P545: A plot twist: When RNA evidence challenges our expectations of DNA results
저자
by
Alexandra Richardson
;
Terra Brannan
;
Colin Young
;
Jessica Grzybowski
;
Marcy Richardson
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100592- (2023)
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7 .
Is Appendiceal Cancer a Lynch Syndrome–Associated Cancer?—Reply
저자
by
Andreana N. Holowatyj
;
Mary K. Washington
;
Carolyn Horton
.
소스
JAMA Oncology
.
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5 .
Abstract PD10-07: Rna genetic testing improves detection of patients with hereditary breast cancer
저자
by
Jill S. Dolinsky
;
Tina Pesaran
;
Carolyn Horton
;
Rachid Karam
;
Lily Hoang
, et al.
소스
Cancer Research
. 81:PD10-07
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7 .
Racial/ethnic differences of germline pathogenic variants in cancer susceptibility genes among patients with early-onset colorectal cancer
저자
by
Andreana N Holowatyj
;
Hannah M Seagle
;
Samantha Keller
;
Sean V Tavtigian
;
David E Goldgar
, et al.
소스
Journal of Clinical Oncology
. 41:19-19
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