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1 . Academic Journal
P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories
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by
Sarah Hamilton
;
Lindsay Fosler
;
Daniel Pineda-Alvarez
;
Britt Johnson
;
Keith Nykamp
.
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Genetics in Medicine Open, Vol 2, Iss , Pp 100953- (2024)
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7 . Academic Journal
P572: Repeated exome reanalysis is most impactful after two years and the majority of new findings are in neurodevelopmental genes
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by
Megan Li
;
Yi-Lee Ting
;
Trevor Williams
;
Jackie Tahiliani
;
Brandon Bunker
, et al.
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Genetics in Medicine Open, Vol 2, Iss , Pp 101478- (2024)
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7 . Academic Journal
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)
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by
Emily Spector
;
Erica Andersen
;
John Herriges
;
Anne Higgins
;
Brynn Levy
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)
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7 . Academic Journal
P058: Cascade testing with comprehensive multigene panels for hereditary cancer identifies unexpected findings in relatives
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by
Brandie Heald
;
Heather Hampel
;
Sarah Nielsen, (Young)
;
Sara L. Bristow
;
Edward Esplin
, et al.
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Genetics in Medicine Open, Vol 1, Iss 1, Pp 100077- (2023)
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7 .
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals
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by
Rebecca Truty
;
Susan Rojahn
;
Karen Ouyang
;
Curtis Kautzer
;
Michael Kennemer
, et al.
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The American Journal of Human Genetics
. 110:551-564
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7 .
Review for 'Is It Time to Expand Our Definition of 'Clinical Utility'?'
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by
Daniel Pineda-Alvarez
.
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