Neurogenetics Publications

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

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

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 HernÃ¡iz; Bailey, Simon; Perreault, SÃ©bastien; 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, ValÃ©rie; 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 Jan ; 30:207-217

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing

Steigerwald, Connolly; Borsuk, Jill; Pappas, John; Galey, Miranda; Scott, Anna; Devaney, Joseph M; Miller, Danny E; Abreu, Nicolas J

Molecular genetics & metabolism. 2023 Dec ; 140:107713

Pearls and Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis

Jain, Aarushi; Arena, Vito P; Steigerwald, Connolly; Borja, Maria J; Kister, Ilya; Abreu, Nicolas J

Neurology. 2023 Sep 12; 101:e1178-e1181

ChatGPT: a pioneering approach to complex prenatal differential diagnosis

Suhag, Anju; Kidd, Jennifer; McGath, Meghan; Rajesh, Raeshmma; Gelfinbein, Joseph; Cacace, Nicole; Monteleone, Berrin; Chavez, Martin R

American journal of obstetrics & gynecology MFM. 2023 May 29; 5:101029

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Neurogenetics Publications | NYU Langone Health