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Nicole Safina

Clinical Associate Professor, Stead Family Department of Pediatrics, Division of Medical Genetics & Genomics · Roy J. and Lucille A. Carver College of Medicine

Credentials: · · · · · · · ·

History

Roy J. and Lucille A. Carver College of Medicine
Present

Boston Children's Hospital
2005–2008
Pediatrics
2000–2003
Medical Genetics and Genomics
Boston Children's Hospital
1998–2000
MED COLL OF PENNSYLVANIA, PHILADELPHIA
1994–1998
Biology & Chemistry, University of Pittsburgh, Johnston, PA
1990–1994

Research

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
Science Translational Medicine · 2012 · 500 citations
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Science Translational Medicine · 2014 · 416 citations
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
Case report · The Journal of General Physiology · 2015 · 78 citations

SS
Sarah Soden
3 papers
AN
Aaron Noll
2 papers
Joshua Petrikin
2 papers
Kristi Canty
2 papers
Nikita Raje
2 papers
VP
Virginia Proud
2 papers
AA
Abdulrahman Aldeeri
1 paper
Ahmed Abdelmoity
1 paper
Alexander Kats
1 paper
AM
Ann Modrcin
1 paper
Atif Ahmed
1 paper
AA
Aya Abu-El-Haija
1 paper