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C. Stevens · SciRah

Researcher profile · Semantic Scholar

C. Stevens

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C. Stevens — researcher profile on SciRah

h-index: 8
Works: 14
Citations: 485

Most-cited papers

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
J. Kraszewski, D. Kay, C. Stevens, Carrie Koval +11 more
2017Genetics in Medicine124 citations Open access
Semantic Scholar
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2
D. Kay, C. Stevens, T. Hamza, J. Montimurro +15 more
2010Neurology99 citations Open access
Semantic Scholar
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
D. Kay, C. Stevens, A. Parker, Carlos A. Saavedra-Matiz +14 more
2020Genetics in Medicine73 citations Open access
Semantic Scholar
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
S. Tortorelli, Jason S Eckerman, Joseph J. Orsini, C. Stevens +8 more
2017Genetics in Medicine50 citations Open access
Semantic Scholar
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population
Erin E. Hughes, C. Stevens, Carlos A. Saavedra-Matiz, Norma P. Tavakoli +19 more
2016Human Mutation43 citations Open access
Semantic Scholar
Newborn Screening for Spinal Muscular Atrophy in New York State
Bo Lee, Stella Deng, C. Chiriboga, D. Kay +15 more
2022Neurology40 citations Open access
Semantic Scholar
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Na Lin, Jingyu Huang, S. Violante, Joseph J. Orsini +13 more
2017Clinical Chemistry26 citations Open access
Semantic Scholar
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
R. Sicko, C. Stevens, Erin E. Hughes, Melissa Leisner +4 more
2021International Journal of Neonatal Screening24 citations Open access
Semantic Scholar
Rare Variants in RPPH1 qPCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.
R. Sicko, P. Romitti, M. Browne, L. Brody +4 more
2021Journal of Molecular Diagnostics4 citations Open access
Semantic Scholar
Clinical characterization of variants of uncertain significance discovered through newborn screening for Pompe disease at one referral center
Amy C. Yang, N. Zeid, L. Estrella, Na Lin +7 more
20171 citations
Semantic Scholar
EPS7.03 Variability in evaluation and follow-up of newborns with CFSPID/CRMS In New York State Cystic Fibrosis Specialty Care Centres
H. Sadeghi, C. Kier, D. Kay, E. Langfelder-Schwind +12 more
2023Journal of Cystic Fibrosis0 citations
Semantic Scholar
32 Characteristics of 225 infants with cystic fibrosis screen positive, inconclusive diagnosis and cystic fibrosis transmembrane conductance regulator–related metabolic syndrome identified in New York State over a 3-year period
C. Kier, H. Sadeghi, D. Kay, E. Langfelder-Schwind +12 more
2022Journal of Cystic Fibrosis0 citations Open access
Semantic Scholar
P3.039 Polymorphisms in the transcription factor gene GATA2 and GATA-2 target region in a-synuclein (SNCA) are associated with Parkinson's disease (PD)
D. Kay, J. Montimurro, M. Schlossmacher, E. Bresnick +6 more
20090 citations
Semantic Scholar
P2.067 Resolving mode-of-inheritance and association of PRKN with PD in a comprehensive sequence and copy-number-variation (CNV) analysis of 3800 subjects
H. Payami, D. Kay, C. Stevens, J. Montimurro +8 more
20090 citations
Semantic Scholar

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