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1 . Academic Journal
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
저자
by
Goldstein, Jennifer
;
Thomas-Wilson, Amanda
;
Groopman, Emily
;
Aggarwal, Vimla
;
Bianconi, Simona
, et al.
소스
In
Molecular Genetics and Metabolism
May 2024 142(1)
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7 . Academic Journal
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Marshall, Christian
;
Meng, Linyan
;
Jobanputra, Vaidehi
;
Taft, Ryan
;
Ashley, Euan
, et al.
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In
Genetics in Medicine
December 2023 25(12)
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7 . Academic Journal
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
저자
by
Abul-Husn, Noura S.
;
Marathe, Priya N.
;
Kelly, Nicole R.
;
Bonini, Katherine E.
;
Sebastin, Monisha
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . Academic Journal
Embryonic lethal genetic variants and chromosomally normal pregnancy loss
저자
by
Kline, Jennie
;
Vardarajan, Badri
;
Abhyankar, Avinash
;
Kytömaa, Sonja
;
Levin, Bruce
, et al.
소스
In
Fertility and Sterility
November 2021 116(5):1351-1358
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7 . Academic Journal
CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES
저자
by
Simpson, Kara
;
Mew, Nicholas Ah.
;
Caldovic, Ljubica
;
Craigen, William
;
Feigenbaum, Annette
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
169 Curating the fetal genome: experience of the ClinGen prenatal gene curation expert panel (GCEP)
저자
by
Galloway, Stephanie
;
Giordano, Jessica L.
;
Thomas-Wilson, Amanda
;
Okur, Volkan
;
Shawber, Carrie J.
, et al.
소스
In
American Journal of Obstetrics and Gynecology
January 2024 230(1) Supplement:S106-S106
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7 . Academic Journal
86 Genome sequencing as a first-tier prenatal diagnostic test: Is it time to change?
저자
by
Jobanputra, Vaidehi
;
Giordano, Jessica L.
;
Pervola, Josie
;
Okur, Volkan
;
Thomas-Wilson, Amanda
, et al.
소스
In
American Journal of Obstetrics and Gynecology
January 2024 230(1) Supplement:S64-S64
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7 . Academic Journal
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
저자
by
Kong, Xiao-Fei
;
Bogyo, Kelsie
;
Kapoor, Sheena
;
Shea, Patrick R.
;
Groopman, Emily E.
, et al.
소스
Scientific Reports
. 12/6/2023, Vol. 13 Issue 1, p1-11. 11p.
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7 . Academic Journal
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
저자
by
Bonini, Katherine E.
;
Thomas‐Wilson, Amanda
;
Marathe, Priya N.
;
Sebastin, Monisha
;
Odgis, Jacqueline A.
, et al.
소스
Clinical Genetics
. Aug2023, Vol. 104 Issue 2, p210-225. 16p.
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7 . Academic Journal
102. Elucidating the genomic landscape of Prostate Adenocarcinoma through whole genome and transcriptome sequencing
저자
by
Melas, Marilena
;
Geiger, Heather
;
Srinivasa, Sowmya T.
;
Guha, Saurav
;
Felice, Vanessa
, et al.
소스
In
Cancer Genetics
November 2022 268-269 Supplement 1:32-33
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