Jennifer Scull

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell et al. · The American Journal of Human Genetics · 2014 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

Yanming Feng, Xiaoyan Ge, Linyan Meng et al. · Genetics in Medicine · 2017 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan et al. · Genome Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17