Matthew Nichols

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz et al. · Genetics in Medicine · 2016 · 111 citations · Full text

Medicine, Child Health, Pediatrics +13

Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots

Carlos A. Saavedra‐Matiz, Jason T Isabelle, Chad K. Biski et al. · Clinical Chemistry · 2013 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Maria L. Beltran‐Quintero, Nicholas A. Bascou, Michele D. Poe et al. · Orphanet Journal of Rare Diseases · 2019 · 56 citations · Full text

Medicine, Neurology, Neuroscience +13

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Georgianne L. Arnold, Carlos A. Saavedra‐Matiz, Patricia Galvin‐Parton et al. · Molecular Genetics and Metabolism · 2009 · 54 citations

Medicine, Genetics, Pediatrics +16

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in <scp>N</scp>ew <scp>Y</scp>ork <scp>S</scp>tate and in confirmed cases of <scp>K</scp>rabbe's disease

Carlos A. Saavedra‐Matiz, Paola Luzi, Matthew Nichols et al. · Journal of Neuroscience Research · 2016 · 42 citations

Life Sciences, Genetics, Molecular Genetics +17