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1 . Academic Journal
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
저자
by
Lowther, Chelsea
;
Valkanas, Elise
;
Giordano, Jessica L.
;
Wang, Harold Z.
;
Currall, Benjamin B.
, et al.
소스
In
The American Journal of Human Genetics
7 September 2023 110(9):1454-1469
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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)
저자
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
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
저자
by
Mohajeri, Kiana
;
Yadav, Rachita
;
D'haene, Eva
;
Boone, Philip M.
;
Erdin, Serkan
, et al.
소스
American Journal of Human Genetics
. Nov2022, Vol. 109 Issue 11, p2049-2067. 19p.
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7 . Academic Journal
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
저자
by
Zhao, Xuefang
;
Collins, Ryan L.
;
Lee, Wan-Ping
;
Weber, Alexandra M.
;
Jun, Yukyung
, et al.
소스
American Journal of Human Genetics
. May2021, Vol. 108 Issue 5, p919-928. 10p.
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7 . Periodical
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
저자
by
Cleynen, Isabelle
;
Engchuan, Worrawat
;
Hestand, Matthew S.
;
Heung, Tracy
;
Holleman, Aaron M.
, et al.
소스
Molecular Psychiatry; August 2021, Vol. 26 Issue: 8 p4496-4510, 15p
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7 . Academic Journal
Reproductive Genetic Testing and Human Genetic Variation in the Era of Genomic Medicine
저자
by
Lowther, Chelsea
;
Costain, Gregory
;
Bassett, Anne S.
.
소스
15 Am. J. Bioethics 25 (2015) / American Journal of Bioethics, Vol. 15, Issue 6 (June 2015), pp. 25-26
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5 . Academic Journal
A structural variation reference for medical and population genetics.
저자
by
Collins, Ryan L.
;
Brand, Harrison
;
Karczewski, Konrad J.
;
Zhao, Xuefang
;
Alföldi, Jessica
, et al.
소스
Nature; 5/28/2020, Vol. 581 Issue 7809, p444-451, 8p, 3 Diagrams, 11 Graphs
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7 . Academic Journal
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
저자
by
Halgren, Christina
;
Nielsen, Nete M.
;
Nazaryan-Petersen, Lusine
;
Silahtaroglu, Asli
;
Collins, Ryan L.
, et al.
소스
American Journal of Human Genetics
. Jun2018, Vol. 102 Issue 6, p1090-1103. 14p.
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7 .
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
저자
by
Lowther, Chelsea
;
Mehrjouy, Mana M
;
Collins, Ryan L
;
Bak, Mads C
;
Dudchenko, Olga
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
저자
by
Lowther, Chelsea
;
Merico, Daniele
;
Costain, Gregory
;
Waserman, Jack
;
Boyd, Kerry
, et al.
소스
Genome Medicine
. 11/30/2017, Vol. 9, p1-13. 13p. 2 Charts, 1 Graph.
Open Access (BioMed Central)
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