S. Lane Rutledge

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

Claudia S. Benton, R. de Silva, S. Lane Rutledge et al. · Neurology · 1998 · 174 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin et al. · American Journal of Medical Genetics Part A · 2011 · 172 citations

Medicine, Genetics, Molecular Genetics +17

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Launce Gouw, Craig D. Kaplan, John H. Haines et al. · Nature Genetics · 1995 · 151 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17