Ian Blumenthal

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

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al. · Cell · 2012 · 586 citations · Full text

Developmental Anomaly, Confer Risk, Developmental Biology +12

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

<i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Aarathi Sugathan, Marta Biagioli, Christelle Golzio et al. · Proceedings of the National Academy of Sciences · 2014 · 337 citations · Full text

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Colby Chiang, Jessie C. Jacobsen, Carl Ernst et al. · Nature Genetics · 2012 · 257 citations

Chromatin, Genome Instability, Complex Reorganization +11

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 · 196 citations · Full text

Genetics, Diagnosis, Pathology +18