Jodi D. Hoffman

Ethical and Policy Issues in Genetic Testing and Screening of Children

Mary E. Fallat, Aviva L. Katz, Mark R. Mercurio et al. · PEDIATRICS · 2013 · 393 citations

Life Sciences, Genetics, Pediatrics +17

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

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 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Life Sciences, Genetics, Molecular Genetics +17