Hong Lu

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 468 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Hansook Kim Chong, Tao Wang, Hsiao-Mei Lu et al. · PLoS ONE · 2014 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>ELP2</i> is a novel gene implicated in neurodevelopmental disabilities

Julie S. Cohen, Siddharth Srivastava, Kelly D. Farwell et al. · American Journal of Medical Genetics Part A · 2015 · 73 citations

Life Sciences, Genetics, Molecular Genetics +17

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Russell J. Butterfield, Tamara J. Stevenson, Lingyan Xing et al. · Neurology · 2014 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A human de novo mutation in<i>MYH10</i>phenocopies the loss of function mutation in mice

Lea Tuzović, Lan Yu, Wenqi Zeng et al. · Rare Diseases · 2013 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13