Shahrin Pereira

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 600 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri et al. · New England Journal of Medicine · 2012 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Zehra Ordulu, Tammy Kammin, Harrison Brand et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14