Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)
MD - Weill Cornell Medical College, New York, NY
Pediatrics and Medical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Medical Biochemical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA
Clinical Biochemical Genetics – American Board of Medical Genetics and GenomicsClinical Genetics and Genomics – American Board of Medical Genetics and GenomicsPediatrics – American Board of Pediatrics
PhD in Physiology & Biophysics - Weill Cornell Medical College, New York, NY
Attending Physician
Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Ahrens-Nicklas R.C.*, Ganetzky R.D.*, Rush P.W., Conway R.L, Ficicioglu C. Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis. 2018. In Press. *Authors contributed equally
Yun S., Reynolds R.P., Petrof I., White A., Rivera P.D., Segev A., Gibson A.D., Suarez M., Desalle M.J., Ito N., Mukhergee S., Richardson D.R., Kang C.E., Ahrens-Nicklas R.C., Soler I., Chetkovich D.M., Kourrich S., Coulter D.A., Eisch A.J. Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive. Nat Med. 2018. 24(658-666).
Ahrens-Nicklas R.C.*, Schlotawa L*, Ballabio A., Brunetti-Pierri N., de Castro M., Dierks T., Eichler F., Ficicioglu C., Finglas A., Gaertner J., Kirmse B., Klepper J., Lee M., Olsen A., Parenti G., Vossough A., Vanderver A., Adang LA. Complex care of patients with Multiple Sulfatase Deficiency: Clinical cases and guidelines consensus statement. Mol Gen Metab. 2018. 123(337-346). *Authors contributed equally
Ahrens-Nicklas R.C., Umanah G., Sondheimer N., Deardorff M., Wilkens A., Conlin L., Santani A., Nesbitt A., Juusola,J, Ma E., Dawson T., Dawson V., Marsh E. Precision therapy for a new disorder of AMPA-receptor recycling. Neurol Genet. 2017. 3(e130).
Ahrens-Nicklas R.C., Whitaker A.M., Kaplan P., Cuddapah S., Burfield J., Blair J., Brochi L., Yudkoff M., Ficicioglu C. Efficacy of early treatment in patients with Cobalamin C disease identified by newborn screening, a sixteen-year experience. Genet Med. 2017. 19(926-935).
Bhoj E.J, Yu Z., Guan Q., Ahrens-Nicklas, R.C., Cao K., Tischler T., Deardorff M., Zackai E., Stolle C., Santani A. Phenotypic Predictors and Final Diagnoses in Patients Referred for RASopathy Testing by Targeted Next-Generation Sequencing. Genet Med. 2017. 19(715-718)
Ahrens-Nicklas R.C., Khan S., Garbarini J., Woyciechowski S., D’Alessandro L, Zackai E.H., Deardorff M.A., Goldmuntz E. Utility of Genetic Evaluation in Infants with Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit. Am J Med Genet. 2016. 170A(3090-3097).
Ahrens-Nicklas R.C., Pyle L., Ficicioglu C. Morbidity and Mortality Among Exclusively Breastfed Neonates with Medium Chain Acyl-CoA Dehydrogenase Deficiency. Genet Med. 2016. 18(1315-1319).
Ganetzky R.D., Bloom K., Ahrens-Nicklas R.C., Edmondson A., Deardorff M.A., Bennett M.J., Ficicioglu C. ECHS1 deficiency as a cause of severe neonatal lactic acidosis. JIMD Reports. 2016. 30(33-37).
Ahrens-Nicklas R.C., Reichert S.L., Zackai E.H.Z., Kaplan P.B. Atypical Williams Syndrome in an infant with complete atrioventricular canal defect. Am J Med Genet. 2015. 167(3108-12).
Ahrens-Nicklas R.C., Serdaroglu E., Muraresku C., Ficicioglu C. Cobalamin C disease missed by newborn screening in a patient with a low carnitine level. JIMD Reports. 2015. 23(71-75).
Bhoj E.J., Li M., Ahrens-Nicklas R.C., Pyle L, Wang J., Zhang V., Clarke C., Wong L.J., Sondheimer N., Ficicioglu C., Yudkoff M. Pathologic variants of the mitochondrial phosphate carrier SLC25A3: two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis. JIMD Reports. 2015. 19(59-66).
Perez C.A., Stanley S.A., Wysocki R.W., Havranova J., Ahrens-Nicklas R., Onyimba F., Friedman J.M. Molecular annotation of integrative feeding neural circuits. Cell Metab. 2011. 13(222-32).
Ahrens-Nicklas R.C. and Christini D.J. Anthropomorphizing the mouse cardiac action potential via a novel dynamic clamp method. Biophys J. 2009. 97(2684-92).
Ahrens-Nicklas R.C., Clancy C.E. and Christini D.J. Re-evaluating the efficacy of -adrenergic agonists and antagonists in Long QT 3 syndrome through computational modeling. Cardiovasc Res. 2009. 82(439-47).
Tsui-Pierchala B., Ahrens R., Paden A., and Johnson, E. NGF promotes the survival of sympathetic neurons through the cooperative function of the PKC and PI-3-K pathways. J Biol Chem. 2004. 279(27986-93).
Pond B.B., Galeffi F., Ahrens R., and Schwartz-Bloom R. Chloride transport inhibitors influence recovery from oxygen-glucose deprivation-induced cellular injury in adult hippocampus. Neuropharm. 2004. 47(253-62).
Bardgett M.E., Boeckman R., Krochmal D., Fernando H., Ahrens R., and Csernansky J.G. NMDA receptor blockade and hippocampal neuronal loss impair fear conditioning and position habit reversal in C57Bl/6 mice. Brain Res Bull. 2003. 60(131-42).
Tsui-Pierchala B., Ahrens R., Crowder R., Milbrandt J., and Johnson, E. The long and short isoforms of Ret function as independent signaling complexes. 2002. J Biol Chem. 2002. 277(34618-25).
Sah R., Galeffi F., Ahrens R., Jordan G. and Schwartz-Bloom R. Modulation of the GABAA –gated chloride channel by reactive oxygen species. J Neurochem. 2002. 80(383-91).
Ahrens-Nicklas R.C., Tecedor L., Banwell, E., Lysenko E., Davidson B.L., Marsh E.D. Neuronal Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis. Society for Neuroscience. Washington, D.C. 2017.
Ahrens-Nicklas R.C., Henderson N., Ficicioglu C., Ortiz D., Gordon P., Ierardi-Curto L., Cuddapah S., El-Gharbawy A., Lichter-Konecki U., Sebastien J., Byers S., Dobrowolski S., Higa L.A., Vockley G., DiPerna J., Sgroi-Gaita B., Patik M. Newborn screening for Pompe disease, the Pennsylvania experience. American College of Medical Genetics. Phoenix, Arizona. 2017.
Ahrens-Nicklas R.C., Whitaker A.M., Kaplan P., Cuddapah S., Burfield J., Blair J., Brochi L., Yudkoff M., Ficicioglu C. Efficacy of early treatment in patients with Cobalamin C disease identified by newborn screening, a sixteen-year experience. American College of Medical Genetics. Phoenix, Arizona. 2017.
Ahrens-Nicklas R.C., Tecedor L., Shultz M.L., Lysenko E., Ramachandran, S., Marsh E.D., Davidson B.L. Small molecule therapies for Juvenile Neuronal Ceroid Lipofuscinosis. Lysosomal WORLD Symposium. San Diego, California. 2017.
Ahrens-Nicklas R.C, Khan S., Garbarini J., Woyciechowski S., D’Alessandro L, Zackai E.H., Deardorff M.A., Goldmuntz E. Utility of Genetic Evaluation in Infants with Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit. American College of Medical Genetics. Tampa, Florida. 2016.
Ahrens-Nicklas R.C., Pyle L., Ficicioglu C. Morbidity and Mortality Among Exclusively Breastfed Neonates with Medium Chain Acyl-CoA Dehydrogenase Deficiency. Society of Inherited Metabolic Disorders. Ponte Verda Beach, Florida. 2016.
Ahrens-Nicklas R.C., Umanah G.K.E., Sondheimer N., Deardorff M.A, Wilkens A.B., Santani A.B, Nesbitt A., Dawson T.M., Dawson V.L., Marsh E.D. Targeted therapy for a novel neurologic disorder identified by whole exome sequencing. American College of Medical Genetics. Salt Lake City, Utah. 2015.
Ahrens-Nicklas R.C., Ganetzky R., Ficicioglu C. Identification of Asymptomatic Glutamate Formiminotransferase Deficiency by newborn screening. Society of Inherited Metabolic Disorders. Salt Lake City, Utah. 2015.
Bhoj E.J, Ahrens-Nicklas R.C, Wenger T. “Genetics” in The Philadelphia Guide to Inpatient Pediatrics, 2nd ed. Gary Frank, Samir S. Shah, Marina Catallozzi Eds. Philadelphia, PA: Lippincott Williams & Wilkins, 2013.
Ahrens-Nicklas RC. “Mechanisms of Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis”- Lysosomal WORLD Symposium 2018.
Ahrens-Nicklas RC. “Searching for potential repurposed therapies in multiple sulfatase deficiency”- MSD Action Foundation Conference. 2017
2018, Lysosomal WORLD Symposium Travel Award
2017, Richard King Award for Best Publication in Genetics in Medicine by a Trainee
2017, Supplemental Support Grant for Neuroscience Research, Children’s Hospital of Philadelphia
2016, Children’s Hospital of Philadelphia Research Day Award
2015, Alavi-Dabiri Fellowship Award
2011, The Mitchell Spivak Memorial Prize in Pediatrics, Weill Cornell Medical College
2011, American Medical Women’s Association Janet M. Glasgow Memorial Achievement Citation
2008-2011, National Institutes of Health (NHLBI) F30 Predoctoral Fellowship
2008-2009, Vincent DuVigneaud Research Symposium Award of Excellence
2006, Alpha Omega Alpha, Weill Cornell Medical College
2003, Phi Beta Kappa, Duke University
2003, Sigma Xi, Duke University
2003, Howard Hughes Research Forum Fellow, Duke University
2002, Barry M. Goldwater Scholarship
2017-present, American Academy of Neurology
2014-present, American College of Medical Genetics and Genomics
2014-present, Society for the Study of Inborn Errors of Metabolism
2014-present, Society of Inborn Metabolic Disorders