Catarina M. Seabra

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

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Harrison Brand, Claire Redin et al. · Genome biology · 2017 · 229 citations · Full text

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

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

Alexandra M. Lopes, Kenneth I. Aston, Emma E. Thompson et al. · PLoS Genetics · 2013 · 142 citations · Full text

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

Derek J.C. Tai, Ashok Ragavendran, Poornima Manavalan et al. · Nature Neuroscience · 2016 · 96 citations · Full text

Engineering, Segmental Duplications, Genetics +11