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April L Studinski Jones
Observed name:
April L. Studinski Jones
Institution:
Mayo Clinic
Observed institution:
Mayo Clinic
ORCID:
0009-0009-9356-8669
Observed ORCID:
0009-0009-9356-8669
OpenAlex ID:
A5017678450
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
2011
·
David M.S. McHugh
, Cynthia A. Cameron
, et al.
·
Genetics in Medicine
·
355
PDF
De novo 11q deletion including SHANK2 in a patient with global developmental delay
2017
·
Cherisse A. Marcou
, April L. Studinski Jones
, et al.
·
American Journal of Medical Genetics Part A
·
9
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease
2025
·
Ibrahim T. Khoja
, Dawn S. Peck
, et al.
·
Genetics in Medicine
·
3
Clinical utility of untargeted urine oligosaccharide screening
2025
·
Gisele Bentz Pino
, Marie A. Quade
, et al.
·
Molecular Genetics and Metabolism
·
1
The Laboratory Genetic Counselor as an Educator
2017
·
Eric Rosenthal
, April L. Studinski Jones
·
Oxford University Press eBooks
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Works count:
5
Citation count:
368
H-index:
3
I10-index:
1
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