Dr. Keppler-Noreuil is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Gain access to free telehealth tools, such as our “call shielding” and one-way patient texting.
- Connect with colleagues in the same hospital or clinic.
- Read the latest clinical news, personalized to your specialty.
Office
1500 Highland Ave
Madison, WI 53705Phone+1 608-263-3301- Is this information wrong?
Summary
- My position as Professor of Pediatrics in the University of Iowa Carver College of Medicine for 16 years, and my recent position at the NHGRI /Genetics Disease Research Branch have both provided me with a breadth of clinical and research experience in dysmorphology and genetics. I served as the Clinical Director of Birth Defects, Iowa Registry for Congenital & Inherited Disorders (IRCID) from 1997-2012In my position at the NHGRI/NIH my additional research interests include natural history, clinical characterization, genetic studies, and therapeutic interventions of somatic overgrowth disorders, including Proteus syndrome and PIK3CA-Related Overgrowth Spectrum (PROS), as well as other malformations and rare genetic disorders, including OEIS complex/cloacal exstrophy, and Bardet-Biedl syndrome. As principal investigator and co-lead of the PIK3CA-Related Overgrowth Multinational Investigation of Sirolimus Efficacy (PROMISE), we have initiated the pilot treatment trial in collaboration the University of Cambridge, UK and University of Dijon, France as part of the Consortium for Overgrowth Disorder Management and Evaluation of Therapeutics (COMET).
Education & Training
- University of Alabama Medical CenterResidency, Medical Genetics and Genomics, 1992 - 1994
- University of Arkansas for Medical Sciences (UAMS) College of MedicineResidency, Pediatrics, 1989 - 1992
- Southern Illinois University School of MedicineClass of 1989
- Grinnell CollegeBA, Biology and French, 1980 - 1984
- Institute of European StudiesNo Degree, 1983
Certifications & Licensure
- IL State Medical License 2021 - 2026
- WI State Medical License 2020 - 2025
- VA State Medical License 2018 - 2020
- MD State Medical License 2018 - 2020
- DC State Medical License 2018 - 2020
- IA State Medical License 1996 - 2020
- AL State Medical License 1992 - 1996
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Top Poster ACMG Annual Clinical Genetics Meeting Program Committee, 2016, 2019
- Director's Award for Rare Diseases Group NIH, 2013
- Distinguished Alumna Southern Illinois University (SIU) School of Medicine, Alumni Society Board of Governors, 2013
- Join now to see all
Clinical Trials
- Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Start of enrollment: 2015 Apr 23
Publications & Presentations
PubMed
- 65 citationsA dyadic approach to the delineation of diagnostic entities in clinical genomics.Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad
American Journal of Human Genetics. 2021-01-07 - 86 citationsMosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A Andrews, Paulina Stadnik
The Journal of Clinical Investigation. 2018-04-02 - 53 citationsDeletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruptionAlex R. Paciorkowski, Kim M. Keppler-Noreuil, Luther K. Robinson, Christopher T. Sullivan, Samin A. Sajan
American Journal of Medical Genetics. Part A. 2013-07-01
Journal Articles
- Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.Keppler-Noreuil KM1, Sapp JC1, Lindhurst MJ1, Darling TN2, Burton-Akright J1, Bagheri M3, Dombi E4, Gruber A1, Jarosinski PF5, Martin S6, Nathan N2, Paul SM7, Savage R..., Am J Hum Genet, 3/7/2019
- The Fourth International Symposium on Genetic Disorders of the RAS/MAPK PathwayStevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Franz D, Gelb B, Goriely A, Gripp..., American Journal of Medical Genetics, 1/1/2016
- Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007Dawson A, Tinker S, Jamieson D, Hobbs C, Berry RJ, Anderka M, Keppler-Noreuil KM, Lin AL, Reefhuis J, and the National Birth Defects Prevention Study, Journal of Epidemiology & Community Health, 1/1/2016
- Join now to see all
Books/Book Chapters
Lectures
- Clinical and Risk Factor Analysis of Cloacal Exstrophy in the NBDPS1/1/2016
- Current Treatment Trials for Segmental Overgrowth DisordersNIH Clinical Center - 1/1/2016
- Approach to the Clinical Genetics Evaluation1/1/2015
- Join now to see all
Press Mentions
- University of Wisconsin Center for Rare Diseases Recognized by National Organization for Rare DisordersNovember 4th, 2021
Hospital Affiliations
- University HospitalMadison, Wisconsin
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence: