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11 . Academic Journal
46 - Molecular Characterization of Recurrent Partial Gene Duplications by Whole Genome Mate-Pair Sequencing (MPseq) to Improve the Accuracy of Chromosomal Microarray Reporting
저자
by
Porath, Binu
;
Johnson, Sarah H.
;
Smoley, Stephanie A.
;
Pitel, Beth
;
Gliem, Troy
, et al.
소스
In
Cancer Genetics
June 2016 209(6):299-300
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17 . Academic Journal
48 - Getting to Know Your LCRs: Recognizing and Interpreting Atypical CNVs in Recurrent Syndromic Microdeletion/Duplication Regions Mediated by Alternative Low Copy Repeat Elements
저자
by
Rowsey, Ross A.
;
Aypar, Umut
;
Baughn, Linda B.
;
Hoppman, Nicole L.
;
Thorland, Erik C.
, et al.
소스
In
Cancer Genetics
June 2016 209(6):300-300
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17 . Academic Journal
43 - What's Next in Cytogenetics: Molecular Characterization of De Novo Apparently Balanced Chromosomal Rearrangements to Assess Pathogenicity by Whole Genome Mate Pair Sequencing
저자
by
Marcou, Cherisse A.
;
Halling, Geoffrey
;
Johnson, Sarah H.
;
Smoley, Stephanie
;
Pearce, Kathryn
, et al.
소스
In
Cancer Genetics
June 2016 209(6):298-298
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17 . Academic Journal
5 - Clinical Impact of Genomic Duplications: A Discussion of Reporting Practices
저자
by
Marcou, Cherisse A.
;
Pitel, Beth
;
Porath, Binu
;
Aypar, Umut
;
Hoppman, Nicole L.
, et al.
소스
In
Cancer Genetics
May 2016 209(5):230-231
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17 . Academic Journal
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
저자
by
Aypar, Umut
;
Smoley, Stephanie A.
;
Pitel, Beth A.
;
Pearce, Kathryn E.
;
Zenka, Roman M.
, et al.
소스
European Journal of Haematology
. Jan2019, Vol. 102 Issue 1, p87-96. 10p.
Full Text (Wiley)
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17 . Academic Journal
Developmental delay and failure to thrive associated with a loss‐of‐function variant in WHSC1 (NSD2).
저자
by
Boczek, Nicole J.
;
Lahner, Carrie A.
;
Nguyen, Thuy‐mi
;
Ferber, Matthew J.
;
Hasadsri, Linda
, et al.
소스
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2798-2802, 5p
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17 . Academic Journal
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic
저자
by
Marcou, Cherisse A.
;
Pitel, Beth
;
Hagen, Clinton E.
;
Boczek, Nicole J.
;
Rowsey, Ross A.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 22(12):2120-2124
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17 . Academic Journal
Loss of TP53 is due to rearrangements involving chromosome region 17p10∼p12 in chronic lymphocytic leukemia
저자
by
Fink, Stephanie R.
;
Smoley, Stephanie A.
;
Stockero, Kimberly J.
;
Paternoster, Sarah F.
;
Thorland, Erik C.
, et al.
소스
In
Cancer Genetics and Cytogenetics
2006 167(2):177-181
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17 . Academic Journal
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience
저자
by
Lazaridis, Konstantinos N.
;
Schahl, Kimberly A.
;
Cousin, Margot A.
;
Babovic-Vuksanovic, Dusica
;
Riegert-Johnson, Douglas L.
, et al.
소스
Mayo Clinic Proceedings
. Mar 01, 2016 91(3):297-307
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17 . Academic Journal
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.
저자
by
Aypar, Umut
;
Hoppman, Nicole L.
;
Thorland, Erik C.
;
Dawson, D. Brian
.
소스
Molecular Cytogenetics (17558166)
. 3/22/2016, Vol. 9, p1-6. 6p.
Open Access (BioMed Central)
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