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1 . Academic Journal
The Current State of Metagenomics in Infectious Disease
저자
by
Uprety, Priyanka
;
Mitchell, Stephanie L.
;
Krock, Bryan L.
;
Graf, Erin H.
.
소스
In
Advances in Molecular Pathology
November 2018 1(1):81-89
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6 . Academic Journal
The aryl hydrocarbon receptor nuclear translocator is an essential regulator of murine hematopoietic stem cell viability
저자
by
Krock, Bryan L.
;
Eisinger-Mathason, Tzipora S.
;
Giannoukos, Dionysios N.
;
Shay, Jessica E.
;
Gohil, Mercy
, et al.
소스
In
Blood
21 May 2015 125(21):3263-3272
Full Text (ScienceDirect)
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7 . Periodical
Molecular Diagnostic Outcomes from 700 Cases
저자
by
Murrell, Jill R.
;
Nesbitt, Addie May I.
;
Baker, Samuel W.
;
Pechter, Kieran B.
;
Balciuniene, Jorune
, et al.
소스
The Journal of Molecular Diagnostics; March 2022, Vol. 24 Issue: 3 p274-286, 13p
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7 . Periodical
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
저자
by
Leung, Marco L.
;
Ji, Jianling
;
Baker, Samuel
;
Buchan, Jillian G.
;
Sivakumaran, Theru A.
, et al.
소스
The Journal of Molecular Diagnostics; February 2022, Vol. 24 Issue: 2 p177-188, 12p
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7 . Academic Journal
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
저자
by
Gilbert, Melissa A.
;
Bauer, Robert C.
;
Rajagopalan, Ramakrishnan
;
Grochowski, Christopher M.
;
Chao, Grace
, et al.
소스
Human Mutation; Dec2019, Vol. 40 Issue 12, p2197-2220, 24p
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7 . Periodical
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Bean, Lora
;
Funke, Birgit
;
Carlston, Colleen M.
;
Gannon, Jennifer L.
;
Kantarci, Sibel
, et al.
소스
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p453-461, 9p
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7 . Academic Journal
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
저자
by
Olson, Heather E.
;
Jean-Marçais, Nolwenn
;
Yang, Edward
;
Heron, Delphine
;
Tatton-Brown, Katrina
, et al.
소스
American Journal of Human Genetics
. May2018, Vol. 102 Issue 5, p995-1007. 13p.
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7 . Periodical
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
저자
by
Wu, Chao
;
Devkota, Batsal
;
Evans, Perry
;
Zhao, Xiaonan
;
Baker, Samuel W.
, et al.
소스
European Journal of Human Genetics: EJHG; April 2019, Vol. 27 Issue: 4 p612-620, 9p
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7 . Periodical
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
저자
by
Baker, Samuel W.
;
Murrell, Jill R.
;
Nesbitt, Addie I.
;
Pechter, Kieran B.
;
Balciuniene, Jorune
, et al.
소스
The Journal of Molecular Diagnostics; January 2019, Vol. 21 Issue: 1 p38-48, 11p
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7 . Book
Genomic Applications in Inherited Genetic Disorders.
저자
by
Krock, Bryan L.
;
Mao, Rong
;
Best, D. Hunter
;
Lyon, Elaine
.
소스
Genomic Applications in Pathology; 2015, p535-551, 17p
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