Neil H. Parker

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-kai Wang et al. · Genetics in Medicine · 2019 · 207 citations · Full text

Sequencing, Mendelian Disorder, Diagnostic Utility +7

Eradicating Medical Student Mistreatment

Joyce M. Fried, Michelle Vermillion, Neil H. Parker et al. · Academic Medicine · 2012 · 165 citations · Full text

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

Neurology, Neuroscience, Molecular Neurobiology +4

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann et al. · Genetics in Medicine · 2018 · 80 citations · Full text

Engineering, Medicine, Comprehensive Iterative Approach +5