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1 . Academic Journal
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
저자
by
Sabrina A. Gardner
;
Katelyn S. Weymouth
;
Wei S. Kelly
;
Ekaterina Bogdanova
;
Wenjie Chen
, et al.
소스
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-10 (2018)
Open Access (BioMed Central)
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7 . Academic Journal
Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids
저자
by
Dailan Liu
;
Narasimhan Nagan
;
Wilhelm W. Just
;
Claus Rodemer
;
Thanh-Phuong Thai
, et al.
소스
Journal of Lipid Research, Vol 46, Iss 4, Pp 727-735 (2005)
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7 .
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Heidi L Rehm
;
Joseph T Alaimo
;
Swaroop Aradhya
;
Pinar Bayrak-Toydemir
;
Hunter Best
, et al.
소스
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7 .
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
저자
by
Kwong Wai Choy
;
Gema Garrido
;
Rebecca K. Siegert
;
Yoel Hirsch
;
Andrew R. Grant
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
Impact of the Updated IPSS-Molecular Prognostic Scoring System for Myelodysplastic Syndrome in 10,283 Real World Samples
저자
by
Grant Hogg
;
Qian Zeng
;
Heidi M Hoffman
;
Eric A. Severson
;
Li Cai
, et al.
소스
Blood
. 140:9783
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7 .
Mutational landscape and clinical characterization of over 17,000 patients with myeloid malignancies using real-world data
저자
by
Taylor J. Jensen
;
Grant Hogg
;
Li Cai
;
Heidi M. Hoffmann
;
Kimberly A. Holden
, et al.
소스
Journal of Clinical Oncology
. 40:7022-7022
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7 .
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
저자
by
Avni Santani
;
Stefan Rentas
;
Eija H. Seppälä
;
Steven M. Harrison
;
Lisa M. Vincent
, et al.
소스
Human Mutation
. 39:1641-1649
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7 .
BRCA Share: A Collection of Clinical BRCA Gene Variants
저자
by
Gwenaëlle Collod-Béroud
;
Narasimhan Nagan
;
Christine Toulas
;
Marcia Eisenberg
;
Crystal M. Buell
, et al.
소스
Human Mutation
. 37:1318-1328
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7 .
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
저자
by
Patricia M. Okamoto
;
Ute Geigenmüller
;
Narasimhan Nagan
;
Joshua Suhl
;
Melissa A. Hayden
, et al.
소스
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-10 (2018)
Open Access (BioMed Central)
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7 .
Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing
저자
by
Rong Mao
;
Nazneen Aziz
;
Victoria M. Pratt
;
Manohar R. Furtado
;
Ira M. Lubin
, et al.
소스
The Journal of Molecular Diagnostics
. 14:525-540
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