Patricia Galvin‐Parton

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini et al. · Pediatric Neurology · 2009 · 187 citations

Medicine, Pediatrics, Preventive Medicine +16

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

D.M. Hagan, Alison Ross, T Strachan et al. · The American Journal of Human Genetics · 2000 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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