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Andrew J Connell
Andrew J Connell
Alfred I. duPont Hospital for Children
Spinal muscular atrophy
SMA*
Medicine
Genome
Medical genetics
3
Papers
30
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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
2020
Genetics in Medicine
Xiao Chen
Alba Sanchis-Juan
Courtney E. French
Andrew J Connell
Isabelle Delon
Zoya Kingsbury
Aditi Chawla
Aaron L. Halpern
Ryan J. Taft
Nihr BioResource
David R. Bentley
Matthew E. R. Butchbach
F. Lucy Raymond
Michael A. Eberle
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Citations (26)
Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data
2019
medRxiv
Xiao Chen
Alba Sanchis-Juan
Courtney E. French
Andrew J Connell
Isabelle Delon
Zoya Kingsbury
Aditi Chawla
Aaron L. Halpern
Ryan J. Taft
Nihr BioResource
David R. Bentley
Matthew E. R. Butchbach
F. Lucy Raymond
Michael A. Eberle
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Citations (2)
The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.
2017
PLOS ONE
Cinsley Gentillon
Andrew J Connell
Ryan W. Kirk
Matthew E.R. Butchbach
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Citations (2)
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