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.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease

Wilson, Genevieve E; Goldman, Deberah S; Saxe, Harriet; Li, Xiaochun; Goldberg, Judith D; Lau, Heather A; Abreu, Nicolas J

Journal of the neurological sciences. 2024 Sep 15; 464:123168

Isolated Cervical Cord Infarct in a Neonate

Yang, Kristen M; Garcia, Mekka R; Segal, Devorah

Journal of child neurology. 2024 Aug 23; 8830738241273362

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

Dugue, Andrew G; Abreu, Nicolas J; Pillai, Cinthi; Galetta, Steven L; Grossman, Scott N

Journal of neuro-ophthalmology. 2024 Aug 15;

Identifying Lesions of the Corpus Callosum in Patients With Neurofibromatosis Type 1

Jandhyala, Nora R; Garcia, Mekka R; Kim, Monica; Yohay, Kaleb; Segal, Devorah

Pediatric neurology. 2024 Jul ; 156:66-71

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

Garber, Alison; Weingarten, Lisa S; Abreu, Nicolas J; Elloumi, Houda Zghal; Haack, Tobias; Hildebrant, Clara; Martínez-Gil, Núria; Mathews, Jennifer; Müller, Amelie Johanna; Valenzuela Palafoll, Irene; Steigerwald, Connolly; Chung, Wendy K

American journal of medical genetics. Part A. 2024 Jul ; 194:e63578

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Duy, Phan Q; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H; Shohfi, John P; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G Bradley; Pisarska, Margareta D; Vásquez, Jaime; Estrada-Veras, Juviannee I; Keren, Boris; Mignot, Cyril; Flore, Leigh A; Palafoll, Irene V; Alper, Seth L; Lifton, Richard P; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T

Brain. 2024 Jun 04;

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. 2024 May ; 30:1500

Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease

O'Neal, Matthew; Noher de Halac, Ines; Aylward, Shawn C; Yildiz, Vedat; Zapanta, Bianca; Abreu, Nicolas; de Los Reyes, Emily

Pediatric neurology. 2024 Mar 01; 154:51-57