Edward J. Lose

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral et al. · Genome Medicine · 2017 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin et al. · American Journal of Medical Genetics Part A · 2011 · 172 citations

Medicine, Genetics, Molecular Genetics +17

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Life Sciences, Bioinformatics, Molecular Medicine +16

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter et al. · Human Genetics · 2011 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17