Carolyn E. Pizoli, MD, PhD

2023

Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N: Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration. Cell 186(6): 1162-1178, March 2023.

Schoch K, McConkie-Rosell A, Walley N, Bhambhani V, Feyma T, Pizoli CE, Smith EC, Tan QK, Shashi V: Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1. Orphanet J Rare Dis 18(11): 269, September 2023.

Jones JA, Cason RK, Chambers ET, Pizoli CE, Kumar KR: Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent. Cureus 15(11): e49044, November 2023.

2021

Harmon A, Stingl C, Rikhi A, Tran L, Pizoli C, Malinzak M, Van Mater H: Pediatric GAD-65 Autoimmune Encephalitis: Assessing Clinical Characteristics and Response to Therapy with a Novel Assessment Scale. Pediatr Neurol Page: 128:25-32, December 2021.

2020

Berube MW, Lemmon ME, Pizoli CE, Bidegain M, Tolia VN, Cotton CM, Greenberg RG: Opioid and benzodiazepine use during therapeutic hypothermia in encephalopathic infants. J Perinatol 40(1): 79-88, January 2020.

Mangalesh S, Tran-Viet D, Pizoli C, Tai V, El-Dairi MA, Chen X, Viehland C, Edwards L, Finkle J, Freedman SF, Toth CA: Subclinical retinal versus brain findings in infants with hypoxic ischemic encephalopathy. 2020 May29. PMID 32472201. Graefes Arch Clin Exp Ophthamol 8(9): 2039-2049, September 2020.

2018

Herrera TI, Edwards L, Malcolm WF, Smith PB, Fisher KA, Pizoli C, Gustafson KE, Goldstein RF, Cotten CM, Goldberg RN, Bidegain M: Outcomes of preterm infants treated with hypothermia for hypoxic-ischemic encephalopathy. 2018 Oct;125:1-7. PMID:30144709. Early Hum Dev 125: 1-7, October 2018.

2017

Pecoraro A, Arehart E, Gallentine W, Radtke R, Smith E, Pizoli C, Kansagra S, Abdelnour E, McLendon R, Mikati MA. : Epilepsy in neurofibromatosis type 1. Epilepsy Behav 73: 137-141, August 2017.

Tan QK, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH: The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Cold Spring Harb Mol Case Stud. 3(6): a002063, November 2017.

2016

Edwards L, DeMeo S, Hornik CD, Cotten CM, Smith PB, Pizoli C, Hauer JM, Bidegain M: Gabapentin Use in the Neonatal Intensive Care Unit. J Pediatr. 169: 310-2, February 2016.

2015

Rothman AL1, Sevilla MB1, Mangalesh S1, Gustafson KE2, Edwards L2, Cotten CM2, Shimony JS3, Pizoli CE2, El-Dairi MA4, Freedman SF4, Toth CA5. : Thinner Retinal Nerve Fiber Layer in Very Preterm versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment.. 2015 Sep 16. PMID:26386157. Am J Ophthalmol 160(6): 1296-1308, December 2015.

2013

Englander Z, Pizoli CE, Batrachenko A, sun J, Worley G, Mikati M, Kurtzberg J, Song A: Diffuse Reduction of White Matter Connectivity in Cerebral Palsy with Specific Vulnerability of Long Range Fiber Tracts. Neuroimage Clinical 22(2): 440-7, March 2013.

2012

Raike RS, Pizoli CE, Weisz C, van den Maagdenberg AM, Jinnah HA, Hess EJ. : Limited regional cerebellar dysfunction induces focal dystonia in mice. Neurobiol Dis. 28(49C): 200-210, July 2012.

2011

Carolyn Pizoli, Manish Shah, Abraham Snyder, Joshua Shimony, David Limbrick, Marcus Raichle, Bradley Schlaggar, and Matthew Smyth: Resting State Activity in Development and Maintenance of Normal Brain. Proc Natl Acad Sci USA 108(28): 11638-43, July 2011.

Pizoli CE, Shah MN, Snyder AZ, Shimony JS, Limbrick DD, Raichle ME, Schlaggar BL, Smyth MD: On the Role of Resting State Activity in the Development and Maintenance of Normal Brain Function. Proc Natl Acad Sci U S A. 108(28): 11638-43, July 2011.

2002

Carolyn Pizoli, Hyder Jinnah, Melvin Billingsley, and Ellen Hess: Abnormal Cerebellar Signaling Induces Dystonia in Mice. Journal of Neuroscience 22(17), September 2002.

2023

Speaker, Wake AHEC 18th Annual Time is Brain: Advances in Stroke Care CME Course- "Pediatric Stroke: When to consider big interventions for little kids?" Sept 2023.

2024

Michalak SM, Mangalesh S, Chen Y, Shen LL, Tai V, Winter K, Sarin N, Ying GS, Toth CA, Vajzovic L; BabySTEPS Group: Longitudinal Choroidal Development in Preterm Infants. Ophthalmol Sci 4(1): 100359, Janurary-February 2024.

2023

Sullivan MI, Gupta MJ, Taylor KA, VanMater HA, Pizoli CE: Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series. . 2023 Dec 19: J Child Neurol 39(1-2): 11-21, January 2023.

Maney K, Pizoli C, Russ JB: Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review. Neurology 100(17): 836-839, April 2023.

2022

Mangalesh S, Seely KR, Tran-Viet D, Tai V, Chen X, Prakalapakorn SG, Freedman SF, Toth CA; BabySTEPS Group.: Integrated Visualization Highlighting Retinal Changes in Retinopathy of Prematurity From 3-Dimensional Optical Coherence Tomography Data. JAMA Ophthalmol 140(7): 725-729, July 2022.

2021

Cannon L, Van Mater H, Pizoli C. : Hypersomnolence in a 17-year-old Boy. Pediatr Rev. 42: S82-S84, January 2021.

2020

Trau SP, Pizoli CE : PURA syndrome and myotonia. Pediatr. Neurol 104: 62-63, March 2020.

2019

Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM; Task Force for Neonatal Genomics, Davis EE, Katsanis N: Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies Am J Hum Genet 104(1): 94-111, January 2019.

Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK,Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, MuznyDM; Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, PoseyJE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA: A genocentric approach approach to discovery of mendelian disorders. Am J Hum Genet 105(5): 974-986, November 2019.

2018

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betül Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A Koolen, Boudewijn Gunning, H Jurgen Schelhaas, Michael C Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C Lanpher 20, Eric W Klee 20, Jan-Mendelt Tillema, Eric T Payne, Margot A Cousin, Teresa M Kruisselbrink, Myra J Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E Davis, Nicholas Katsanis; Task Force for Neonatal Genomics; Mark A Corbett, Alastair H MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H Rodan, Elizabeth Kichula 1, Eric Segal 32, Kelly E Jackson 33, Alexander Asamoah 33, David Dimmock 34, Julie McCarrier, Lorenzo D Botto, Francis Filloux, Tatiana Tvrdik, Gregory D Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C Jacobsen, Melinda A Nolan, Russell G Snell, Klaus Lehnert, Lynette G Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J Friez, Michael J Lyons, Jennifer Leonhard 47, Gabriel Kringlen 48, Kari Casas 48, Christelle M El Achkar, Lacey A Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J Carss, Julia Rankin, Adam Zeman, F Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka; Deciphering Developmental Disorders Study; Ulrike B S Hedrich, Ingrid E Scheffer, Ingo Helbig, Gerald W Zamponi, Holger Lerche, Heather C Mefford : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 103(5): 666-678, November 2018.

2015

Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J; Task Force for Neonatal Genomics, Davis EE, Sunyaev SR, Katsanis N: Identification of cis-suppression of human disease mutations by comparative genomics. Nature 13(524): 225-9, August 2015.