C. Stevens

发表

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

P. Rinaldo, D. Matern, J. Alexander, 2017, Genetics in Medicine.

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

M. Gelb, R. Kornreich, Chunli Yu, 2017, Clinical chemistry.

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

G. Schellenberg, A. Samii, S. Factor, 2010, Neurology.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

W. Chung, C. Chiriboga, C. Stevens, 2020, Genetics in Medicine.

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

W. Chung, D. Vivo, C. Stevens, 2017, Genetics in Medicine.

Newborn Screening for Spinal Muscular Atrophy in New York State

K. Engelstad, C. Chiriboga, C. Stevens, 2022, Neurology.

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

C. Stevens, M. Caggana, D. Kay, 2021, International journal of neonatal screening.

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

P. Roey, Norma P. Tavakoli, C. Stevens, 2016, Human mutation.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

P. Rinaldo, D. Matern, J. Alexander, 2018, Genetics in Medicine.

Rare Variants in RPPH1 qPCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.

L. Brody, J. Mills, C. Stevens, 2021, The Journal of molecular diagnostics : JMD.