KimKeppler-NoreuilMD

PubMed

• 60 citations
  A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
  Jennifer J. Johnston, Monica Sanchez-Contreras, Kim M. Keppler-Noreuil, Julie C. Sapp, Molly M. Crenshaw
  American Journal of Human Genetics. 2015-09-03
• 47 citations
  Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
  Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Thomas N. Darling, Jasmine Burton-Akright
  American Journal of Human Genetics. 2019-03-07
• 89 citations
  Mosaic 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

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
• Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway  
  Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN, Dermatologic Clinics, 1/1/2016
• Nephroblastomatosis or Wilms Tumor in a Fourth Patient with a Somatic PIK3CA Mutation  
  Gripp KW, Baker L, Kandula V, Conard K, Napoli J, Griffin G, Thacker M, Knox R, Clark G, Parker V, Semple R, Mirzaa G, Keppler-Noreuil KM, American Journal of Medical Genetics, 1/1/2016
• Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007  
  Dawson 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
• The Fourth International Symposium on Genetic Disorders of the RAS/MAPK Pathway  
  Stevenson 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
• Exome Sequencing Identifies Novel Mutations in C5orf42 in Patients with Joubert Syndrome with Oral-Facial-Digital Anomalies  
  Wentzensen IM, Johnston JJ, Keppler-Noreuil K, Acrich K, David K, Johnson KD, Graham JM Jr, Sapp JC, Biesecker LG, Human Genome Variation, 1/1/2015
• Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes  
  Reutter H, Keppler-Noreuil K, Keegan CE, Thiele H, Yamada G, Ludwig M, Current Genomics, 1/1/2015
• A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome  
  Johnston JJ, Sanchex-Contreras MY, Keppler-Noreuil K, Sapp JC, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG, American Journal of Human Genetics, 1/1/2015
• Risk factors for Dandy-Walker Malformation, National Birth Defects Prevention Study, 1997-2009  
  Reeder M, Carey J, Keppler-Noreuil KM, Botto L, Byrne J, Feldkamp M, American Journal of Medical Genetics A, 1/1/2015
• Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures and a Down syndrome-like facies  
  Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C..., American Journal of Human Genetics, 1/1/2015
• MATR3 Disruption in Human and Mouse Associated with Bicuspid Aortic Valve, Aortic Coarctation and Patent Ductus Arteriosus  
  Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Mosk..., Human Molecular Genetics, 1/1/2015
• PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis and evaluation  
  Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG, American Journal of Medical Genetics A, 1/1/2015
• Myocardial Fat Overgrowth in Proteus Syndrome  
  Hannoush H, Sachdev V, Brofferio A, Arai A, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker L, Keppler-Noreuil KM, American Journal of Medical Genetics A, 1/1/2014
• Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum  
  Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VER, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fr..., American Journal of Medical Genetics A, 1/1/2014
• Assessment of Congenital Anomalies in Infants Born to Pregnant Women Enrolled in Clinical Trials  
  Rasmussen SA, Hernandez-Diaz S, Abdul-Rahman OA, Sahin L, Petrie CR, Keppler-Noreuil KM, Frey SE, Mason RM, Nesin M, Carey JC, Clinical Infectious Diseases, 1/1/2014
• Sensenbrenner syndrome (Cranioectodermal Dysplasia): Clinical and Molecular Analyses of 39 Patients Including Two New Patients  
  Lin AE, Traum AL, Sahai I, Keppler-Noreuil KM, Kukolich MK, Adam MJ, Westra SJ, Arts HH, American Journal of Medical Genetics A, 1/1/2013
• Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome  
  Johnston JJ, Wen KK, Keppler-Noreuil KM, McKane M, Maiers JL, Greiner A, Sapp JC, DeMali KA, Rubenstein PA, Biesecker LG, Human Mutation, 1/1/2013
• Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome  
  Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Wiggs, EA, American Journal of Medical Genetics A, 1/1/2013
• Deletion 16p1311 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of microcephaly to include fetal brain disruption  
  Paciorkowki AR, Keppler-Noreuil KM, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel S, Gleeson JG, Sherr E, Dobyns WB, American Journal of Medical Genetics A, 1/1/2013
• Shaheen R, Aglan M, Keppler-Noreuil KM, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Zahrani F, Cueto-Gonzalez AM, Abdel-Salam, G, Temtamy S, Alkuraya FS  
  Shaheen R, Aglan M, Keppler-Noreuil KM, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Zahrani F, Cueto-Gonzalez AM, Abdel-Salam, G, Temtamy S, Alkuraya FS, American Journal of Human Genetics, 1/1/2013
• Apparent germline mosaicism for a novel 19p1313 deletion disrupting NFIX and CACNA1A  
  Nimmakayalu M, Horton VK, Darbro B, Patil SR, Alsayouf H, Keppler-Noreuil K and Shchelochkov OA, American Journal of Medical Genetics, 1/1/2013
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  Carter CS, Vogel TW, Zhang Q, Swiderski RE, Moninger TO, Cassell MD, Thedens DR, Keppler-Noreuil KM, Nishimura DY, Searby CS, Bugge K, Sheffield VC, Nature Medicine, 1/1/2012
• The development of an in-service exam for medical genetics residency programs  
  Keppler-Noreuil KM, Genetics in Medicine, 1/1/2012
• A Novel 4p163 Microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with New Phenotypic Features  
  Cyr AB, Nimmakayalu M, Patil SR, Keppler-Noreuil KM, Shchelochkov OA, American Journal of Medical Genetics A, 1/1/2011
• A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome  
  Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA,..., New England Journal of Medicine, 1/1/2011
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Books/Book Chapters

• American Academy of Pediatrics. Medical Genetics in Pediatric Practice 
  Chapter: Appendix A: Resources for the Pediatrician 
  Keppler-Noreuil, KMEditors: Saul RA.American Academy of Pediatrics, Elk Grove Village, IL2013
• Med Study - Pediatric Board Review Core Curriculum 
  Chapter: Metabolic Disorders & Genetic Disorders 
  Keppler-Noreuil, KMEditors: Cross JT, Hannaman RA.MedStudy Corporation, Colorado Springs, CO2007
• Med Study - Pediatric Board Review Core Curriculum 
  Chapter: Metabolic Disorders" & "Genetic Disorders 
  Keppler-Noreuil, KMEditors: Cross JT, Hannaman RA.MedStudy Corporation, Colorado Springs, CO2004
• Pediatric Clerkship Guide 
  Chapter: Genetics 
  Keppler-Noreuil KM, Kanis, A.Editors: Woodhead JC.Mosby, Division of Harcourt, St. Louis, MO2003
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Lectures

• Clinical and Risk Factor Analysis of Cloacal Exstrophy in the NBDPS 
  1/1/2016
• Current Treatment Trials for Segmental Overgrowth Disorders 
  NIH Clinical Center - 1/1/2016
• Clinical and Risk Factor Analysis of Cloacal Exstrophy in the National Birth Defects Prevention Study (NBDPS) 
  1/1/2015
• Common Defects and Rare Genetic Syndromes with Asymmetry 
  1/1/2015
• Delineation of Genitourinary Developmental Defects in 118 Infants with Cloacal Malformations 
  1/1/2015
• Approach to the Clinical Genetics Evaluation 
  1/1/2015
• Overgrowth syndromes 
  Dartmouth Medical Center - 1/1/2015
• PIK3CA-Related Overgrowth Spectrum and Therapeutic Treatment Trials 
  Dartmouth Medical Center - 1/1/2015
• Characteristic Pattern of Cranial Hyperostosis Associated with Underlying Brain Malformations & Meningiomas in Proteus Syndrome 
  1/1/2015
• Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum 
  1/1/2014
• Pattern of Craniofacial Hyperostosis in Proteus syndrome - Association with Underlying Brain Malformations & Meningiomas 
  1/1/2014
• Thrombosis in Proteus syndrome: Risk Assessment and Plan for Evaluation 
  1/1/2013
• Top 10 Genetics Resources for Pediatric Primary Care Providers 
  Genetics in Primary Care Institute (GPCI), Central, Illinois - 10/25/2012
• Review of Klippel-Feil syndrome in 25 patients - Potential Pathogenetic Role of NOTCH Signaling Pathway 
  1/1/2012
• Prenatal findings in Genetic syndromes 
  UIHC - 1/1/2012
• Clinical Dysmorphology 
  1/1/2012
• Role of Genetics in Women's Cancer 
  1/1/2011
• Brain abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) correlate with neurodevelopmental findings 
  1/1/2011
• Clinical, Genetic & Risk Factor Analyses of Cloacal Exstrophy /OEIS complex & Related Malformations 
  1/1/2011
• Clinical Dysmorphology Evaluation 
  Center for Disabilities and Development (CDD) In-service Education. Center for Disability and Develo - 1/1/2011
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