Emilie D. Douine

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

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Hayk Barseghyan, W.H. Wilson Tang, Richard T. Wang et al. · Genome Medicine · 2017 · 110 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

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair et al. · Genetics in Medicine · 2018 · 105 citations · Full text

Pathogenic Kat6a Variants, Kat6a Syndrome, Genetics +6

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