As a physician-scientist, my goal is to not only pursue understanding of novel human genetic diagnoses, but also to serve as a liaison between the laboratory and clinic for both parents and families as well as other physicians and members of the care team.
K. Nicole Weaver, MD



I have always enjoyed working with children and had a natural affinity for math and science. Therefore, becoming a pediatrician seemed an obvious career path for me and was my long-term goal, even as I entered undergraduate training at Duke University with plans to major in engineering. Shadowing experiences in college at the local pediatric hospital confirmed my commitment to becoming a pediatrician. I was also fortunate to participate in the Duke University Pratt School of Engineering Undergraduate Fellows Program and gain exposure to translational research, with a project focused on bringing lab-on-a-chip technology to preemies.

I began medical school at the University of Alabama, still with plans to train in pediatrics. However, I became intrigued by medical genetics during my clinical pediatric rotation, leading me to pursue elective time in the Department of Genetics. The field of clinical genetics is a perfect fit for me as it combines caring for children and their families with the rapidly changing field of genetics.

After receiving my MD, I entered the combined pediatrics and medical genetics residency program at Cincinnati Children’s. My residency provided broad training in the care of children and adults with a variety of genetic diagnoses, but I found I had a particular affinity for diagnoses involving craniofacial and cardiac components. As exome sequencing became readily available towards the end of my residency, I participated in a divisional rare-disease whole-exome sequencing research project. I learned how to analyze exomes and facilitated the discovery of two novel craniofacial malformation syndromes. Although highly confident that I had found the “right” answers for these two cases, functional studies were necessary to prove that our predictions were correct, and the variants were indeed pathogenic. Through this process, I realized that I wanted additional training and experience in bench research, so I was not dependent on collaborators to validate results I discovered in sequencing analyses. My career path subsequently veered from that of “clinical geneticist” to “clinical geneticist and physician scientist” as I obtained institutional and National Institutes of Health (NIH) funding to facilitate my training in basic science while simultaneously continuing to provide care to patients in clinic.

My clinical expertise lies in the areas of cardiovascular, craniofacial and biochemical genetics. I am co-director of the Cincinnati Children’s Cardiovascular Genetics Clinic, which provides care to children and adults with diagnoses, such as Marfan, Loeys Dietz, Williams and vascular Ehlers Danlos syndromes. I also see patients in the Cincinnati Children’s RASopathies Program.

I have been a member of the Costello Syndrome Family Network (CSFN) Professional Advisory Board since 2015, and an activate participant in CSFN meetings for the last five years.

Understanding the natural history of rare genetic diagnoses is a particular concern for parents, and therefore understanding the medical concerns of adults with Costello syndrome became a focus of my clinical research. I am deeply committed to the care of children with RASopathies and their families, and actively participate in clinical research as well as clinical care through my involvement with the Cincinnati Children’s RASopathy Program. Last but not least, I completed training in biochemical genetics and provide care for children with metabolic disorders, and serve as one of three lab directors for the Cincinnati Children’s Biochemical Genetics Laboratory.

Today, I split my time between the lab and clinical realms. As a physician-scientist, my goal is to not only pursue understanding of novel human genetic diagnoses, but also to serve as a liaison between the laboratory and clinic for both parents and families as well as other physicians and members of the care team. Education of others and training the next generation of clinical geneticists is also an important part of my job: I serve as the associate program director for the Cincinnati Children’s clinical genetics training programs and also am a member of the Executive Committee for the Committee on Genetics for the American Academy of Pediatrics (AAP). Ultimately, I hope that knowledge of the underlying pathogenesis of genetic syndromes will aid in identifying novel mechanisms for prevention, modification or treatment for affected individuals.

When I am not at work, I enjoy spending time with my children and family, reading and exercising.

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

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


Cardiovascular genetics

Services and Specialties

Genetics, Cardiovascular Genetics, Treacher Collins, Craniofacial Disorders, Rasopathy


Craniofacial malformations

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Smallwood, K; Watt, KE N; Ide, S; Baltrunaite, K; Brunswick, C; Inskeep, K; Capannari, C; Adam, MP; Begtrup, A; Bertola, DR; Maeshima, K; Stottmann, RW; Trainor, PA; Weaver, KN. The American Journal of Human Genetics. 2023; 110:809-825.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. van Woerden, GM; Senden, R; de Konink, C; Trezza, RA; Baban, A; Bassetti, JA; van Bever, Y; Bird, LM; van Bon, BW; Brooks, AS; Tartaglia, M; Niceta, M; Elgersma, Y; Demirdas, S. Human Mutation. 2022; 43:1377-1395.

Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Hancock, B; Miller, EM; Parrott, A; Weaver, KN; Tretter, JT; Pilipenko, V; Shikany, AR. Journal of Genetic Counseling. 2022; 31:965-975.

Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Weaver, KN; Chen, J; Shikany, A; White, PS; Prada, CE; Gelb, BD; Cnota, JF. Circulation: Genomic and Precision Medicine. 2022; 15:e003635.

Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. Perl, E; Ravisankar, P; Beerens, ME; Mulahasanovic, L; Smallwood, K; Sasso, MB; Wenzel, C; Ryan, TD; Komár, M; Bove, KE; MacRae, CA; Weaver, KN; Prada, CE; Waxman, JS. HGG Advances. 2022; 3:100115.

A clinical scoring system for early onset (neonatal) Marfan syndrome. Zarate, YA; Morris, SA; Blackshare, A; Algaze, CA; Connor, BS; Kim, AJ; Yutzey, KE; Miller, EM; Weaver, KN; Collins, RT. Genetics in Medicine. 2022; 24:1503-1511.

Craniosynostosis is a feature of Costello syndrome. Weaver, KN; Care, M; Wakefield, E; Zarate, YA; Skoch, J; Gripp, KW; Prada, CE. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286.

Robin sequence without cleft palate: Genetic diagnoses and management implications. Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; Saal, HM. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

POLRMT mutations impair mitochondrial transcription causing neurological disease. Oláhová, M; Peter, B; Szilagyi, Z; Diaz-Maldonado, H; Singh, M; Sommerville, EW; Blakely, EL; Collier, JJ; Hoberg, E; Stránecký, V; Gorman, GS; Falkenberg, M; Gustafsson, CM; Taylor, RW. Nature Communications. 2021; 12:1135.

Reply: Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis. Ehsan, Z; Weaver, KN; Pan, BS; Huang, G; Hossain, MM; Simakajornboon, N; Hossain, MM; Weaver, KN; Huang, G; Hossain, MM; Simakajornboon, N. Plastic and Reconstructive Surgery. 2021; 148:502e-503e.

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