K. Nicole Weaver

Instructor, UC Department of Pediatrics

Phone 513-636-4760

Email kathryn.weaver@cchmc.org

Clinical

Cardiovascular genetics

Research

Craniofacial malformations

MD: University of Alabama, Birmingham, AL, 2009.

Residency: Pediatrics and Medical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2014.

View PubMed Publications

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP et al. Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia. American Journal of Human Genetics. 2015.

Weaver KN, Wang D, Cnota J, Gardner N, Stabley D, Sol-Church K, Gripp KW, Witte DP, Bove KE, Hopkin RJ. Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease. Pediatric and Developmental Pathology. 2014 November/December;17(6):421-430.

Weaver KN, Johnson J, Kline-Fath B, Zhang X, Lim F, Tinkle B, Saal HM, Hopkin RJ. Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. Prenat Diagn. 2014 Dec;34(13):1326-31.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Del Gaudio D, Yuksel A, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of 2 new MGP mutations and discussion of clinical overlaps with arylsulfatase E deficiency and relapsing polychondritis. Am J Medical Genetics Part A. 2014 Apr;164A(4):1062-8.

Bous SM, Weaver KN, Hufnagel R, Bader R, Schorry E, Hopkin RJ. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct;164A(10):2607-12.

Sellars EA, Wusik K, Weaver KN, Hopkin R. Variable presentation between a mother and fetus with Goltz syndrome. Prenatal Diagnosis. 2013 Aug;13:1-3.

Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Medical Genetics Part A. 2010 Feb;152A(2):438-40.