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1 . Academic Journal
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
저자
by
Jianhong Hu
;
Viktoriya Korchina
;
Hana Zouk
;
Maegan V. Harden
;
David Murdock
, et al.
소스
BMC Research Notes, Vol 17, Iss 1, Pp 1-8 (2024)
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7 . Academic Journal
P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
저자
by
Lauren O'Grady
;
Nina Gold
;
Amel Karaa
;
Hana Zouk
;
Wei He
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100894- (2024)
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7 . Academic Journal
P064: Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care vs research return of results
저자
by
Ilham Abbasi
;
Emma Perez
;
Hana Zouk
;
Matthew Lebo
;
Robert Green
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100946- (2024)
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7 . Academic Journal
P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel
저자
by
Melissa Kelly
;
Hana Zouk
;
James Ware
;
Birgit Funke
;
Kate Thomson
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101581- (2024)
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7 . Academic Journal
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
저자
by
Jessica I. Gold
;
Sarina Madhavan
;
Joseph Park
;
Hana Zouk
;
Emma Perez
, et al.
소스
HGG Advances, Vol 4, Iss 4, Pp 100226- (2023)
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7 . Academic Journal
P517: An automated approach to report drafting for newborn genomic sequencing in the BabySeq Project
저자
by
Anna Nagy
;
Eugene Mysen
;
Chungming Glendy Sun
;
Lisa Mahanta
;
Bethany Zettler
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100564- (2023)
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7 . Academic Journal
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification
저자
by
Daniel Quiat
;
Leora Witkowski
;
Hana Zouk
;
Kevin P. Daly
;
Amy E. Roberts
.
소스
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 11 (2020)
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7 . Academic Journal
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies
저자
by
Bilal Azab
;
Zain Dardas
;
Dunia Aburizeg
;
Muawyah Al-Bdour
;
Mohammed Abu-Ameerh
, et al.
소스
Genes, Vol 12, Iss 4, p 593 (2021)
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7 . Academic Journal
Study of transcriptional effects in Cis at the IFIH1 locus.
저자
by
Hana Zouk
;
Luc Marchand
;
Constantin Polychronakos
.
소스
PLoS ONE, Vol 5, Iss 7, p e11564 (2010)
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5 .
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results
저자
by
Ozan Dikilitas
;
Alborz Sherafati
;
Seyedmohammad Saadatagah
;
Benjamin A. Satterfield
;
David C. Kochan
, et al.
소스
Circulation: Genomic and Precision Medicine
. 16
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