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1 . Academic Journal
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
저자
by
Guess, Tiffany
;
Wheeler, Ferrin C.
;
Yenamandra, Ashwini
;
Schilit, Samantha L.P.
;
Anderson, Hannah S.
, et al.
소스
In
Genetics in Medicine
October 2024 26(10)
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7 . Academic Journal
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
저자
by
Shen, Wei
;
Sellers, Heidi L.
;
Choate, Lauren A.
;
Stein, Mariam I.
;
Tandale, Pratyush P.
, et al.
소스
In
The Journal of Molecular Diagnostics
July 2023 25(7):524-531
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7 . Academic Journal
“Inflammatory Leiomyosarcoma” and “Histiocyte-rich Rhabdomyoblastic Tumor”: a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as “Inflammatory Rhabdomyoblastic Tumor”
저자
by
Cloutier, Jeffrey M.
;
Charville, Gregory W.
;
Mertens, Fredrik
;
Sukov, William
;
Fritchie, Karen
, et al.
소스
In
Modern Pathology
April 2021 34(4):758-769
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7 . Academic Journal
SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)
저자
by
Johnson, Sarah H.
;
Smadbeck, James B.
;
Smoley, Stephanie A.
;
Gaitatzes, Athanasios
;
Murphy, Stephen J.
, et al.
소스
In
Cancer Genetics
February 2018 221:1-18
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7 . Academic Journal
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
저자
by
Polonis, Katarzyna
;
Lopes, Jaime L.
;
Cabral, Huong
;
Babcock, Holly E.
;
Kline, Laura
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1978-1983, 6p
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7 . Academic Journal
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype
저자
by
Polonis, Katarzyna
;
Lopes, Jaime L.
;
Cabral, Huong
;
Hasadsri, Linda
;
Rowsey, Ross A.
, et al.
소스
In
Cancer Genetics
June 2022 264-265 Supplement 1:5-6
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7 . Academic Journal
Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy.
저자
by
Jawahir-Schonauer, Jessica
;
Norman, Alexa
;
Mbanugo, Chineze
;
Yu, Grace
;
Rowsey, Ross A.
, et al.
소스
Fetal Diagnosis & Therapy
. 2022, Vol. 49 Issue 7/8, p301-305. 5p.
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7 . Periodical
Single-Nucleotide Polymorphism Array for Histologically Ambiguous Melanocytic Tumors
저자
by
Geiersbach, Katherine B.
;
Gliem, Troy J.
;
Jenkins, Sarah M.
;
Gaitatzes, Athanasios G.
;
Brodersen, Pamela R.
, et al.
소스
The Journal of Molecular Diagnostics; November 2022, Vol. 24 Issue: 11 p1160-1170, 11p
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7 . Periodical
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders
저자
by
Shen, Wei
;
Sellers, Heidi L.
;
Choate, Lauren A.
;
Stein, Mariam I.
;
Tandale, Pratyush P.
, et al.
소스
The Journal of Molecular Diagnostics; 20240101, Issue: Preprints
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7 . Academic Journal
Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.
저자
by
Lopes, Jaime L.
;
Lopes, Guilherme S.
;
Enninga, Elizabeth A. L.
;
Kearney, Hutton M.
;
Hoppman, Nicole L.
, et al.
소스
Prenatal Diagnosis; Jun2020, Vol. 40 Issue 7, p831-837, 7p
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