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NIH

Kim M. Keppler-Noreuil, M.D.

Associate Investigator, Medical Genomics and Metabolic Genetics Branch
Clinical Genomics Section

Selected Publications

Keppler-Noreuil KM. OEIS Complex (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects): A review of 14 cases. Am J Med Genet, 99:271-279. 2001. [PubMed]

Rasmussen S, Olney R, Holmes L, Lin A, Keppler-Noreuil K, Moore C, National Birth Defects Prevention Study. Guidelines for Case Classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol, 67:193-201. 2003. [PubMed]

Herrasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fiorito A, Wallerstein R, Muti C, Simon-Bouy B, Mornet E. Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. J Med Genet, 40:605-609. 2003. [Full Text PDF]

Olsen CK, Keppler-Noreuil KM, Romitti P, Budelier WT, Sparks AET, Van Voorhis BJ. In vitro fertilization is associated with an increase in major birth defects. Fertil Steril, 84:1308-1315. 2005. [PubMed]

Keppler-Noreuil KM, Gorton S, Foo F, Yankowitz J, Keegan C. Prenatal ascertainment of OEIS complex/ cloacal exstrophy - 15 new cases and literature review. Am J Med Genet A, 143A:2122-2128. 2007. [Full Text PDF]

Keppler-Noreuil KM, Welch J, Baker-Lange K. Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases. Am J Med Genet A, 143A:2581-2587. 2007. [PubMed]

Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Iyer R, Park JM, Keppler-Noreuil KM, Keegan CE. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. Am J Med Genet A, 155A:38-49. 2011. [PubMed]

Keppler-Noreuil KM, Blumhorst C, Sapp JC, Brinckman D, Johnston J, Nopoulos PC, Biesecker LG. Brain tissue-and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS). BMC Med Genet, 12:101. 2011. [PubMed]

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, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med, 18;365:611-619. 2011. [PubMed]

Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Wiggs, EA. Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome. Am J Med Genet A, 161A:2964-2971. 2013. [PubMed]

Johnston JJ, Wen KK, Keppler-Noreuil KM, McKane M, Maiers JL, Greiner A, Sapp JC, DeMali KA, Rubenstein PA, Biesecker LG. Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Hum Mutat, 34:1242-1249. 2013. [PubMed]

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, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LDM, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM, Geer J, Henderson A, Semple RK, Biesecker LG. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum Am J Med Genet A, 164A:1713-1733. 2014. [PubMed]

Rasmussen SA, Hernandez-Diaz S, Abdul-Rahman OA, Sahin L, Petrie CR, Keppler-Noreuil KM, Frey SE, Mason RM, Nesin M, Carey JC. Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials. Clin Infect Dis, 59; Suppl7:S428-436. 2014. [PubMed]

Hannoush H, Sachdev V, Brofferio A, Arai A, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker L, Keppler-Noreuil KM. Myocardial fat overgrowth in Proteus syndrome. Am J Med Genet A, 167A:103-110. 2014. [PubMed]

Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis and evaluation. Am J Med Genet A, 167A:287-295. 2015. [PubMed]

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, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet, 24:2375-2389. 2015. [PubMed]

Reeder MR, Botto L, Keppler-Noreuil KM, Carey J, Byrne J, Feldkamp M; National Birth Defects Prevention Study. Risk factors for Dandy-Walker Malformation: A population-based assessment. Am J Med Genet A, 167:2009-2016. 2015. [PubMed]

Reutter H, Keppler-Noreuil K, Keegan CE, Thiele H, Yamada G, Ludwig M. Genetics of bladder-exstrophy-epispadias complex (BEEC): Systematic elucidation of Mendelian and multifactorial phenotypes. Current Genomics, 17: XXX  2016. [In Press]

Johnston JJ, Sanchex-Contreras MY, Keppler-Noreuil K, Sapp JC, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. 2015. A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome. Am J Hum Genet, 97:465-474. [PubMed]

Keppler-Noreuil KM, Baker EH, Sapp JC, Lindhurst MJ, Biesecker LG. Somatic AKT1 Mutations Cause Meningiomas Colocalizing with a Characteristic Pattern of Cranial Hyperostosis. American Journal of Medical Genetics, 170A:2605-2610. 2016. [PubMed]

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 KW, Hardan A, Keppler-Noreuil K, Kerr B, Korf B, Leoni C, McCormick F, Plotkin S, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC. The Fourth International Symposium on Genetic Disorders of the RAS/MAPK Pathway. American Journal of Medical Genetics, 170:1959-1966. 2016. [PubMed]

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. Nephroblastomatosis or Wilms Tumor in a Fourth Patient with a Somatic PIK3CA Mutation. American Journal of Medical Genetics, 170A:2559-2569. 2016. [PubMed]

Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN. Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway. Dermatologic Clinics, 35:51-60. 2017. [PubMed]

Keppler-Noreuil KM, Parker VER, Darling TN, Martinez-Agosto JA. Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies. American Journal of Medical Genetics Part C, Seminars in Medical Genetics, "Therapy for non-metabolic genetic disorders". 2016. [PubMed]


Last Updated: January 27, 2017