Richard E. Lutz

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 554 citations · Full text

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

G. Bradley Schaefer, Richard E. Lutz · Genetics in Medicine · 2006 · 95 citations · Full text

Neurodevelopmental Disorders, Psychiatry, Autism Spectrum Disorders +10

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Deeksha Bali, Jennifer Goldstein, Keri Fredrickson et al. · Molecular Genetics and Metabolism · 2013 · 56 citations

Mendelian Disorder, Hepatology, Genetic Disorder +10

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types

Jing Wang, Hui Yu, Victor Wei Zhang et al. · Genetics in Medicine · 2015 · 37 citations · Full text

Mutation Types, Mutation-based Testing, Engineering +13