Concepedia

Nicole P. Safina

NP

Statistics

Publications

13

Citations

1.9K

H-Index

12

Active since

2010

Affiliations

University of Missouri–Kansas City(Current)

Children's Mercy Hospital

Baylor College of Medicine

Université de Montpellier

University of Antwerp

Nicole P. Safina is an author at University of Missouri–Kansas City specializing in genetics, life sciences, and molecular genetics.

Publications per year

2010–2020

13

Publications

13

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Saunders, Neil Miller, Sarah Soden et al. · Science Translational Medicine · 2012 · 678 citations

, , +17

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah Soden, Carol Saunders, Laurel K. Willig et al. · Science Translational Medicine · 2014 · 532 citations

, , +6

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

, , +14

A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization

Isabelle Thiffault, David J. Speca, Daniel C. Austin et al. · The Journal of General Physiology · 2015 · 94 citations · Full text

, , +17

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina et al. · The American Journal of Human Genetics · 2010 · 84 citations · Full text

, , +14

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