Jodi D. Hoffman

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Karen L. David, Robert G. Best, Leslie Manace Brenman et al. · Genetics in Medicine · 2018 · 129 citations · Full text

Genetic Testing, Medicine, Genetics +7

Somatic mosaicism for an <i>HRAS</i> mutation causes Costello syndrome

Karen W. Gripp, Deborah L. Stabley, Linda K. Nicholson et al. · American Journal of Medical Genetics Part A · 2006 · 92 citations

Mutation analysis of <i>B3GALTL</i> in Peters Plus syndrome

Linda M. Reis, Rebecca C. Tyler, Omar Abdul‐Rahman et al. · American Journal of Medical Genetics Part A · 2008 · 60 citations · Full text