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1 . Academic Journal
P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)
저자
by
Emily Spector
;
Erica Andersen
;
John Herriges
;
Anne Higgins
;
Brynn Levy
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101482- (2024)
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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
Chelsea Lowther
;
Daniele Merico
;
Gregory Costain
;
Jack Waserman
;
Kerry Boyd
, et al.
소스
Genome Medicine, Vol 9, Iss 1, Pp 1-13 (2017)
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7 . Academic Journal
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
저자
by
Anthony R Isles
;
Andrés Ingason
;
Chelsea Lowther
;
James Walters
;
Micha Gawlick
, et al.
소스
PLoS Genetics, Vol 12, Iss 5, p e1005993 (2016)
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7 .
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
저자
by
Kiana Mohajeri
;
Rachita Yadav
;
Eva D'haene
;
Philip M. Boone
;
Serkan Erdin
, et al.
소스
Am J Hum Genet
Full Text (ScienceDirect O/A)
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7 .
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
저자
by
Yukyung Jun
;
Evan E. Eichler
;
Scott E. Devine
;
Ben Weisburd
;
Harrison Brand
, et al.
소스
Am J Hum Genet
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7 .
A cross-disorder dosage sensitivity map of the human genome
저자
by
Swaroop Aradhya
;
Konrad J. Karczewski
;
Farid Ullah
;
Georgios Kellaris
;
Diane Lucente
, et al.
소스
Open Access (OpenAIRE)
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7 .
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
저자
by
Anne S. Bassett
;
Meredith Curtis
;
Gregory Costain
;
Miriam S. Reuter
;
Stephen W. Scherer
, et al.
소스
Genetics in Medicine
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7 .
A cross-disorder dosage sensitivity map of the human genome
저자
by
Ryan L. Collins
;
Joseph T. Glessner
;
Eleonora Porcu
;
Maarja Lepamets
;
Rhonda Brandon
, et al.
소스
Cell
. 185(16)
Full Text (ScienceDirect)
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7 .
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
저자
by
Stephen Sanders
;
Elise Valkanas
;
Charlotte Tolonen
;
Ryan L. Collins
;
Chelsea Lowther
, et al.
소스
Open Access (OpenAIRE)
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7 .
Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
저자
by
Scott E. Devine
;
Peter A. Audano
;
Jack Fu
;
Ryan L. Collins
;
Charles Lee
, et al.
소스
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