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1 . Academic Journal
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
저자
by
Mohan, Shruthi
;
McNulty, Shannon
;
Thaxton, Courtney
;
Elnagheeb, Marwa
;
Owens, Emma
, et al.
소스
Annals of Clinical & Translational Neurology
. Aug2024, p1. 9p. 2 Illustrations.
Open Access (Wiley)
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7 . Academic Journal
P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
저자
by
Waddell, Amber
;
Hespe, Sophie
;
Asatryan, Babken
;
Owens, Emma
;
Thaxton, Courtney
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (ScienceDirect)
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7 . Academic Journal
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
저자
by
Josephs, Katherine S.
;
Roberts, Angharad M.
;
Theotokis, Pantazis
;
Walsh, Roddy
;
Ostrowski, Philip J.
, et al.
소스
Genome Medicine
. 10/23/2023, Vol. 15 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
저자
by
Jordan, Elizabeth
;
Peterson, Laiken
;
Tomohiko Ai
;
Asatryan, Babken
;
Bronicki, Lucas
, et al.
소스
Circulation
. 7/6/2021, Vol. 144 Issue 1, p7-19. 13p.
Full Text (LWW)
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7 . Academic Journal
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
저자
by
Pranckeviciene, Erinija
;
Racacho, Lemuel
;
Ghani, Mahdi
;
Nfonsam, Landry
;
Potter, Ryan
, et al.
소스
Human Genetics
. 2021, Vol. 140 Issue 2, p289-297. 9p.
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7 . Periodical
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
저자
by
Morales, Ana
;
Ing, Alexander
;
Antolik, Christian
;
Austin-Tse, Christina
;
Baudhuin, Linnea M.
, et al.
소스
The Journal of Molecular Diagnostics; May 2021, Vol. 23 Issue: 5 p589-598, 10p
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7 . Academic Journal
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory.
저자
by
Nfonsam, Landry
;
Ordorica, Shelley
;
Ghani, Mahdi
;
Potter, Ryan
;
Schaffer, Audrey
, et al.
소스
Journal of Medical Genetics; Jun2019, Vol. 56 Issue 6, p408-412, 5p
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7 . Periodical
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
저자
by
Ghani, Mahdi
;
Nfonsam, Landry
;
Pranckeviciene, Erinija
;
Daoud, Hussein
;
Potter, Ryan
, et al.
소스
The Journal of Molecular Diagnostics; July 2019, Vol. 21 Issue: 4 p602-611, 10p
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7 . Academic Journal
Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays
저자
by
Pranckeviciene, Erinija
;
Racacho, Lemuel
;
Ghani, Mahdi
;
Nfonsam, Landry
;
Potter, Ryan
, et al.
소스
HUMAN GENETICS
; JUL 5 2020, 9p.
Scopus
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7 . Academic Journal
ALU transposition induces familial hypertrophic cardiomyopathy
저자
by
Nfonsam, Landry
;
Huang, Lijia
;
Carson, Nancy
;
McGowan-Jordan, Jean
;
Bergeron, Melanie Beaulieu
, et al.
소스
MOLECULAR GENETICS & GENOMIC MEDICINE
; JAN 2020, 8 1, pe951 4p.
Open Access (Wiley)
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