Selected Publications

Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM.: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European Journal of Human Genetics 32(8): 928, Aug 2024.

Benjamin T Cocanougher, Samuel W Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G Jackson, Kristen L Deak, Chi D Hornik, Mai K ElMallah, Carolyn E Pizoli, Edward C Smith, Khoon Ghee Queenie Tan, Marie T McDonald: The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt. Human Genetics and Genomics Advances 5(3): 100288, July 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.

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 2024.

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.

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.

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.

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.

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.

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.