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1 . Academic Journal
O09: Phenome-wide studies of hereditary transthyretin amyloidosis in the All of Us research program
저자
by
Cassia Williams-Rogers
;
Tam Tran
;
Caralynn Wilczewski
;
Felicia Akinwande
;
Nicholas Singh-Miller
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101013- (2024)
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7 . Academic Journal
P155: The ClinGen framework for naming monogenic diseases
저자
by
Courtney Thaxton
;
Leslie Biesecker
;
Marina DiStefano
;
Melissa Haendel
;
Emma Owens
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101052- (2024)
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7 . Academic Journal
P475: Secondary findings analysis in the personalized environment and genes study: Reduced return in disorders with autosomal recessive inheritance pattern
저자
by
Jennifer Johnston
;
Julie Sapp
;
Seeley Yoo
;
Zara Wermers
;
Sophia Hernandez
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101374- (2024)
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7 . Academic Journal
P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
저자
by
Leslie Biesecker
;
Alicia Byrne
;
Steven Harrison
;
Tina Pesaran
;
Alejandro Schäffer
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101616- (2024)
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7 .
eP364: Lessons from pathogenicity classifications for 251 RYR1 variants associated with malignant hyperthermia susceptibility using variant curation expert panel revised criteria
저자
by
Jennifer Johnston
;
Robert Dirksen
;
Thierry Girard
;
Stephen Gonsalves
;
Phil Hopkins
, et al.
소스
Genetics in Medicine
. 24:S229-S230
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7 .
OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity
저자
by
Morgan Similuk
;
Jia Yan
;
Tristan Sissung
;
Rajarshi Ghosh
;
Wenija Cao
, et al.
소스
Genetics in Medicine
. 24:S385
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7 .
eP154: Predictive genomic medicine for thoracic aortic aneurysm and dissection
저자
by
Alexander Katz
;
Caralynn Wilczewski
;
Natalie Hauser
;
Palak Shah
;
Vera Zanker
, et al.
소스
Genetics in Medicine
. 24:S94
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7 .
OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea
저자
by
Angela Delaney
;
Lacey Plummer
;
Adam Burkholder
;
Maria Mericq
;
Paulina Merino
, et al.
소스
Journal of the Endocrine Society
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7 .
RARE VARIANTS IN SORT1 ASSOCIATE WITH CORONARY ARTERY CALCIUM IN THE CLINSEQ STUDY
저자
by
Andrew E. Arai
;
Marcus Chen
;
Leslie Biesecker
;
James Mullikin
;
Ani W. Manichaikul
, et al.
소스
Journal of the American College of Cardiology
. 65:A1064
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7 .
Endangered species
저자
by
Leslie Biesecker
.
소스
American journal of medical genetics. Part A
. (4)
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