Child Neurology Publications

Faculty in NYU Langone’s Division of Child Neurology publish frequently in top peer-reviewed journals. Here is a selection of their recent publications.

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A

Gunelson, Anna M; Kim, Kwang-Soo; Steigerwald, Connolly G; Segal, Devorah; Abreu, Nicolas J; Yi, Jason J

Journal of human genetics. 2025 May 02;

Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey

Merker, Vanessa L; Ma, Yidan; Chibnik, Lori B; Radtke, Heather B; Kelts, Kate; Yohay, Kaleb; Ullrich, Nicole J; Plotkin, Scott R; Jordan, Justin T

Orphanet journal of rare diseases. 2025 Apr 16; 20:185

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy

Hogue, Bailyn; Garcia, Mekka R; Steigerwald, Connolly G; Borja, Maria J; Abreu, Nicolas J

Journal of child neurology. 2025 Apr 16; 8830738251328199

Author Correction: The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial

Kilburn, Lindsay B; Khuong-Quang, Dong-Anh; Hansford, Jordan R; Landi, Daniel; van der Lugt, Jasper; Leary, Sarah E S; Driever, Pablo Hernáiz; Bailey, Simon; Perreault, Sébastien; McCowage, Geoffrey; Waanders, Angela J; Ziegler, David S; Witt, Olaf; Baxter, Patricia A; Kang, Hyoung Jin; Hassall, Timothy E; Han, Jung Woo; Hargrave, Darren; Franson, Andrea T; Yalon Oren, Michal; Toledano, Helen; Larouche, Valérie; Kline, Cassie; Abdelbaki, Mohamed S; Jabado, Nada; Gottardo, Nicholas G; Gerber, Nicolas U; Whipple, Nicholas S; Segal, Devorah; Chi, Susan N; Oren, Liat; Tan, Enrica E K; Mueller, Sabine; Cornelio, Izzy; McLeod, Lisa; Zhao, Xin; Walter, Ashley; Da Costa, Daniel; Manley, Peter; Blackman, Samuel C; Packer, Roger J; Nysom, Karsten

Nature medicine. 2025 Apr 16;

Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force

Gutmann, David H; Anastasaki, Corina; Gupta, Aditi; Hou, Yang; Morris, Stephanie M; Payne, Jonathan M; Raber, Jacob; Tomchik, Seth M; Van Aelst, Linda; Walker, James A; Yohay, Kaleb H; ,

Genes & development. 2025 Mar 24;

Acute Effects of Pediatric Primary Brain Tumors

Garcia, Mekka R; Jandhyala, Nora; Segal, Devorah

Pediatric neurology. 2025 Mar 22; 167:60-65

Cutaneous Toxicities of MEK Inhibitor Use in Children: A Comparison of Binimetinib and Selumetinib

Needle, Carli D; Yin, Lu; Young, Trevor K; Friedman, Steven; Mandal, Soutrik; Segal, Devorah; Yohay, Kaleb H; Lakdawala, Nikita R; Oza, Vikash S

Pediatric dermatology. 2025 Nov ; 42:67-72

Radiographic and visual response to the type II RAF inhibitor tovorafenib in children with relapsed/refractory optic pathway glioma in the FIREFLY-1 trial

Nysom, Karsten; Kilburn, Lindsay B; Leary, Sarah E S; Landi, Daniel B; de Vos-Kerkhof, Evelien; Perreault, Sébastien; Witt, Olaf; Ziegler, David S; Hernáiz Driever, Pablo; Franson, Andrea T; Baxter, Patricia A; Whipple, Nicholas S; Kline, Cassie; Segal, Devorah; Jabado, Nada; Bailey, Simon; McCowage, Geoffrey; Hansford, Jordan R; Khuong-Quang, Dong-Anh; Gottardo, Nicholas G; Hassall, Timothy; Han, Jung Woo; Yalon Oren, Michal; Chi, Susan N; Qiu, Jiaheng; Da Costa, Daniel; Govinda Raju, Sandya; Manley, Peter; Hargrave, Darren

Neuro-oncology. 2024 Dec 19;

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Child Neurology Publications | NYU Langone Health