Sarah B. Emery
University of Michigan(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Chromosomal and Genetic Variations, Cancer Genomics and Diagnostics
Most-Cited Works
- → An integrated map of structural variation in 2,504 human genomes(2015)2,617 cited
- → Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice(2008)320 cited
- → The genomic landscape of polymorphic human nuclear mitochondrial insertions(2014)282 cited
- → Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network(2017)279 cited
- → Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication(2018)172 cited
- → The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing(2021)132 cited
- → Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment(2011)123 cited
- → Increased activity of Diaphanous homolog 3 ( DIAPH3 )/ diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila(2010)123 cited
- → Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology(2019)108 cited
- → A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome(2012)97 cited