A photo of Kathryn Nicole Weaver.

Clinical Geneticist, Division of Human Genetics

Instructor, UC Department of Pediatrics


Board Certified

About Me

Clinical Interests

Cardiovascular genetics

Research Interests

Craniofacial malformations

Academic Affiliation

Instructor, UC Department of Pediatrics


Human Genetics, Cardiovascular Genetics, Treacher Collins Center, Craniofacial Center, Rasopathy

My Locations

My Education

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

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

My 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.