ErinConboyMD

Medical Genetics

Physician

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Mayo Clinic College of Medicine and Science (Rochester)Residency, Pediatrics, 2012 - 2015
Pennsylvania State University College of MedicineClass of 2012

PubMed

34 citations
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips
American Journal of Human Genetics. 2020-12-03
59 citations
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo
American Journal of Human Genetics. 2018-05-03
15 citations
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Vairo
Molecular Genetics & Genomic Medicine. 2019-01-10