Brent L Fogel

Clinical application of next-generation sequencing to the practice of neurology

Hane Lee, Jessica Rexach, Julian A Martinez-Agosto, 2019, The Lancet Neurology.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.

Neelroop Parikshak, Fuying Gao, Genevieve Konopka, 2012, Human molecular genetics.

Interpretation of genetic testing: variants of unknown significance.

Brent L Fogel, 2011, Continuum.

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

Brent L Fogel, S. Perlman, B. Fogel, 2007, The Lancet Neurology.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Brent L Fogel, J. Lowe, B. Fogel, 2013, International review of neurobiology.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Giovanni Coppola, Fuying Gao, Genevieve Konopka, 2014, Human molecular genetics.