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1 . Academic Journal
Neptune: an environment for the delivery of genomic medicine
저자
by
Eric, Venner
;
Yi, Victoria
;
Murdock, David
;
Kalla, Sara E.
;
Wu, Tsung-Jung
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1838-1846
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7 . Academic Journal
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
저자
by
Yuan, Bo
;
Wang, Lei
;
Liu, Pengfei
;
Shaw, Chad
;
Dai, Hongzheng
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1633-1641
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7 . Academic Journal
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
저자
by
Zouk, Hana
;
Venner, Eric
;
Lennon, Niall J.
;
Muzny, Donna M.
;
Abrams, Debra
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):588-605
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7 . Academic Journal
WHOLE EXOME SEQUENCING STUDY IDENTIFIES RARE COPY NUMBER VARIATIONS FOR LATE-ONSET ALZHEIMER’S DISEASE: THE ALZHEIMER’S DISEASE SEQUENCING PROJECT CASE-CONTROL ANALYSIS
저자
by
Jian, Xueqiu
;
Chiang, Theodore
;
Worley, Kim C.
;
Bis, Joshua C.
;
Destefano, Anita L.
, et al.
소스
In
Alzheimer's & Dementia: The Journal of the Alzheimer's Association
July 2018 14(7) Supplement:P1025-P1025
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7 . Academic Journal
In vivo modeling of metastatic human high-grade serous ovarian cancer in mice.
저자
by
Kim, Olga
;
Park, Eun Young
;
Klinkebiel, David L.
;
Pack, Svetlana D.
;
Shin, Yong-Hyun
, et al.
소스
PLoS Genetics
. 6/4/2020, Vol. 16 Issue 6, p1-29. 29p.
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7 . Periodical
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
저자
by
Chiang, Theodore
;
Liu, Xiuping
;
Wu, Tsung-Jung
;
Hu, Jianhong
;
Sedlazeck, Fritz J.
, et al.
소스
Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2135-2144, 10p
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7 . Academic Journal
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
저자
by
Gambin, Tomasz
;
Akdemir, Zeynep C.
;
Bo Yuan
;
Shen Gu
;
Chiang, Theodore
, et al.
소스
Nucleic Acids Research; Feb2017, Vol. 45 Issue 4, p1633-1648, 16p, 1 Color Photograph, 1 Diagram, 1 Chart, 5 Graphs
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7 . Academic Journal
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
저자
by
Harel, Tamar
;
Yoon, Wan Hee
;
Garone, Caterina
;
Gu, Shen
;
Coban-Akdemir, Zeynep
, et al.
소스
American Journal of Human Genetics
. Oct2016, Vol. 99 Issue 4, p831-845. 15p.
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7 . Academic Journal
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
저자
by
Leduc, Magalie S.
;
Niu, Zhiyv
;
Bi, Weimin
;
Zhu, Wenmiao
;
Miloslavskaya, Irene
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2016, Vol. 170A Issue 8, p2206-2211, 6p
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7 . Academic Journal
Reanalysis of Clinical Exome Sequencing Data.
저자
by
Pengfei Liu
;
Lupski, James R.
;
Yaping Yang
;
Liu, Pengfei
;
Meng, Linyan
, et al.
소스
New England Journal of Medicine
. 6/20/2019, Vol. 380 Issue 25, p2478-2480. 3p.
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