Neurogenetics Publications | NYU Langone Health

Neurogenetics Research Neurogenetics Publications

Neurogenetics Publications

NYU Langone’s Division of Neurogenetics faculty publish frequently in prestigious, peer-reviewed journals. Here is a selection of their recent publications.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Annals of neurology. 2025 Sep ; 98:561-572

Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy

Shi, Guangbin; Miller, Claire; Kuno, Sota; Rey Hipolito, Alejandro G; El Nagar, Salsabiel; Riboldi, Giulietta M; Korn, Megan; Tran, Wyatt C; Wang, Zixuan; Ficaro, Lia; Lin, Tao; Spillier, Quentin; Gamallo-Lana, Begoña; Jones, Drew R; Snuderl, Matija; Song, Soomin C; Mar, Adam C; Joyner, Alexandra L; Sillitoe, Roy V; Banh, Robert S; Pacold, Michael E

Nature. 2025 Sep ; 645:466-474

Influenza-Associated Acute Necrotizing Encephalopathy in US Children

,; Silverman, Andrew; Walsh, Rachel; Santoro, Jonathan D; Thomas, Katherine; Ballinger, Elizabeth; Fisher, Kristen S; Thomas, Ajay X; Appavu, Brian; Kruer, Michael C; Neilson, Derek; Knoll, Jasmine; Sharp, April N; Edelman, Hannah E; Otallah, Scott; Morgan, Alexandra; Grzezulkowska, Aniela; Nguyen, John; Rao, Lekha M; Hecht, Shaina M; Catalano, Laura; Daigle, Hunter; Kronfol, Catherine; Wharton, Jessica; Adams, David; Kalawi, Adam Z; Kung, Michael; Arellano, Janetta L; Smith, Lauren; Segal, Devorah; Feja, Kristina; Broomall, Eileen; Jayakar, Anuj; Arnold, Sandra R; Retallack, Hanna; Press, Craig A; Gombolay, Grace; McLaughlin, Madeleine H; Kannan, Varun; Thakkar, Kavita; Rezwan, Tasmia; Hulfish, Erin; Eid, Dalia; Meylor, Jennifer; Peng, Diane; Hurtado, Ryan; Nickerson, Taylor; Mandell, Iris; Carbonell, Abigail U; Kerner-Rossi, Mallory; Jayaraman, Divya; Davis, Mallory; Olivero, Rosemary; Shah, Neel; Osborne, Christina M; Zhang, Bo; Cortina, Christopher; Randolph, Adrienne G; Rao, Suchitra; LaRocca, Thomas; Van Haren, Keith P; Wilson-Murphy, Molly

JAMA. 2025 Aug 26; 334:692-701

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 Aug ; 70:439-442

Tectal gliomas as a rare finding in presumed idiopathic congenital aqueductal stenosis: patient series

Jandhyala, Nora R; Negash, Bruck; Garcia, Mekka R; Allen, Jeffrey; Wisoff, Jeffrey H; Segal, Devorah

Journal of neurosurgery. Case lessons. 2025 Jul 28; 10:

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B

Gold, Daniel R; Bery, Anand K; Moukheiber, Emile; Mu, Weiyi; Abreu, Nicolas J; Fein, Alexander S; Steigerwald, Connolly G; Rucker, Janet C

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 2025 Jul 22;

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 Jul ; 31:2454

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. 2025 Jun 21; 27:1341-1355