Franklin Quan

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

J. Andrew Keightley, Roberto P. Anitori, Miriam D. Burton et al. · The American Journal of Human Genetics · 2000 · 120 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetic Disorder +10

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Feras Hantash, Dana G. Goos, David Tsao et al. · Genetics in Medicine · 2010 · 83 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +12

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Charles M. Strom, Dana Goos, Beryl Crossley et al. · Genetics in Medicine · 2012 · 81 citations · Full text

Allelic Variant, Genetic Testing, Population Frequencies +12

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism

Franklin Quan, Markus Grompe, Petra Jakobs et al. · Human Molecular Genetics · 1995 · 69 citations

Genetic Testing, Genetics, Pathology +23

Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory

Charles M. Strom, Beryl Crossley, Joy B. Redman et al. · Genetics in Medicine · 2007 · 62 citations · Full text

Fragile X Syndrome, Genetic Testing, Mendelian Disorder +12