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.

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 Jul 30;

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;

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 Jul 09;

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 Jul 01;

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

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;

Further delineation of the SCAF4-associated neurodevelopmental disorder

Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane

European journal of human genetics. 2025 May ; 33:588-594