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1 . Academic Journal
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Seifert, Bryce A.
;
Reddi, Honey V.
;
Kang, Benjamin E.
;
Bean, Lora J.H.
;
Shealy, Amy
, et al.
소스
In
Genetics in Medicine
August 2024 26(8)
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7 . Academic Journal
Deep Screening for X Chromosome Parent of Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome
저자
by
Larsen, Isabella G.
;
Moses, Rachel Gore
;
Seifert, Bryce A.
;
Liu, Siyuan
;
Li, Samuel
, et al.
소스
In
Biological Psychiatry Global Open Science
August 2024
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7 . Academic Journal
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Shao, Lina
;
Akkari, Yassmine
;
Cooley, Linda D.
;
Miller, David T.
;
Seifert, Bryce A.
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1818-1829
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7 . Academic Journal
Addendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Reddi, Honey V.
;
Avenarius, Matthew R.
;
Bean, Lora J.H.
;
Best, Hunter
;
Guha, Saurav
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
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by
Mohsin, Noreen
;
Hunt, Devin
;
Yan, Jia
;
Jabbour, Austin J.
;
Nghiem, Paul
, et al.
소스
JAMA Dermatology; Feb2024, Vol. 160 Issue 2, p172-178, 7p
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7 . Academic Journal
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
저자
by
Beers, Breanna J.
;
Similuk, Morgan N.
;
Ghosh, Rajarshi
;
Seifert, Bryce A.
;
Jamal, Leila
, et al.
소스
Frontiers in Immunology; 2023, p1-10, 10p
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7 . Editorial & Opinion
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
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by
Raca, Gordana
;
Astbury, Caroline
;
Behlmann, Andrea
;
De Castro, Mauricio J.
;
Hickey, Scott E.
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Early-Onset Merkel Cell Carcinoma is Associated with Germline Defects in DNA Repair Genes and a Rare Immunodeficiency
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by
Moshin, Noreen
;
Hunt, Devin
;
Jabbour, Austin J.
;
Nghiem, Paul
;
Freemam, Alexandra F.
, et al.
소스
In
Journal of Investigative Dermatology
October 2022 142(10):2839-2839
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7 . Academic Journal
Ronin influences the DNA damage response in pluripotent stem cells
저자
by
Seifert, Bryce A.
;
Dejosez, Marion
;
Zwaka, Thomas P.
.
소스
In
Stem Cell Research
August 2017 23:98-104
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5 . Periodical
A deep intronic splice–altering AIREvariant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
저자
by
Ochoa, Sebastian
;
Hsu, Amy P.
;
Oler, Andrew J.
;
Kumar, Dhaneshwar
;
Chauss, Daniel
, et al.
소스
Science Translational Medicine; September 2024, Vol. 16 Issue: 765
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