Neurogenetics Publications | NYU Langone Health

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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.

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 01; 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

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

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 : a journal of neurology. 2024 Jun 04;

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

Treatment of Periodic Alternating Nystagmus as a Consequence of Ataxia-Telangiectasia

Jauregui, Ruben; Bhagat, Dhristie; Garcia, Mekka R; Miller, Claire; Grossman, Scott N

Journal of neuro-ophthalmology. 2024 Mar 01; 44:e151-e152

Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings

O'Neill, Kimberly A; Dugue, Andrew; Abreu, Nicolas J; Balcer, Laura J; Branche, Marc; Galetta, Steven; Graves, Jennifer; Kister, Ilya; Magro, Cynthia; Miller, Claire; Newsome, Scott D; Pappas, John; Rucker, Janet; Steigerwald, Connolly; William, Christopher M; Zamvil, Scott S; Grossman, Scott N; Krupp, Lauren B

Neurology neuroimmunology & neuroinflammation. 2024 Mar ; 11:e200194

Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders

Abreu, Nicolas J; Chiujdea, Madeline; Liu, Shanshan; Zhang, Bo; Spence, Sarah J

Pediatric neurology. 2024 Jan ; 150:17-23