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Emily Aston
Observed name:
Aston, Emily
Institution:
ARUP Laboratories (United States)
Observed institutions:
University of Utah,
ARUP Institute for Clinical and Experimental Pathology,
ARUP Laboratories (United States)
OpenAlex ID:
A5113403158
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
2011
·
Erin B Kaminsky
, Vineith Kaul
, et al.
·
Genetics in Medicine
·
446
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
2010
·
Daniel Moreno-De-Luca
, Jennifer G. Mulle
, et al.
·
The American Journal of Human Genetics
·
324
PDF
Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype
2008
·
Sarah T. South
, Heidi Whitby
, et al.
·
American Journal of Medical Genetics Part A
·
102
How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
2008
·
Jennifer Saam
, Jim Gudgeon
, et al.
·
Genetics in Medicine
·
40
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation
2007
·
Annika M. Svensson
, Cynthia J. Curry
, et al.
·
American Journal of Medical Genetics Part A
·
18
Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?
2008
·
Cynthia J. Curry
, Rong Mao
, et al.
·
American Journal of Medical Genetics Part A
·
14
A Practical Approach to the Detection of Prognostically Significant Genomic Aberrations in Multiple Myeloma
2005
·
Zhong Chen
, Bonnie Issa
, et al.
·
Journal of Molecular Diagnostics
·
13
PDF
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
2011
·
Daniel Moreno-De-Luca
, Jennifer G. Mulle
, et al.
·
The American Journal of Human Genetics
·
9
PDF
Small molecule protein assembly modulators with pan-cancer therapeutic efficacy
2024
·
Anuradha F. Lingappa
, Olayemi Akintunde
, et al.
·
Open Biology
·
7
PDF
Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements
2010
·
Sarah T. South
, Lyndsey Rector
, et al.
·
Journal of Molecular Diagnostics
·
7
Author response for "Small molecule protein assembly modulators with pan-cancer therapeutic efficacy"
2024
·
Anuradha F. Lingappa
, Olayemi Akintunde
, et al.
58. Myeloma FISH - Lessons learned from a panel redesign
2024
·
Maria Longhurst
, Emily Aston
, et al.
·
Cancer Genetics
48. Validation of a digital FISH analysis workflow for multiple myeloma
2024
·
Emily Aston
, Maria Longhurst
, et al.
·
Cancer Genetics
5. Implementation of Automatic Slide Processing for Aneuploidy FISH Test
2024
·
Wenhua Zhou
, Eric Fredrickson
, et al.
·
Cancer Genetics
P422: Validation of a digital FISH analysis workflow in an academic reference laboratory*
2023
·
Maria Longhurst
, Emily Aston
, et al.
·
Genetics in Medicine Open
PDF
Validation of MYC and BCL6 rapid break apart digital fluorescence in situ hybridization assays for clinical use.
2023
·
Michael Liew
, Leslie Rowe
, et al.
·
PubMed
PDF
Consultations in Molecular Diagnostics Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements
2010
·
Sarah T. South
, L.S. Rector
, et al.
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Works count:
19
Citation count:
980
H-index:
8
I10-index:
7
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