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Journal of Child Neurology|April 16, 2025
NDUFS8-Related Leigh Syndrome Mimicking a LeukodystrophyBailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, et al.Journal of Genetic Counseling|March 13, 2024
Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosisConnolly G Steigerwald, Carina Bertolini, Martin McElhiney, et al.Journal of Human Genetics|May 2, 2025
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3AAnna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, et al.Cerebellum (London, England)|March 18, 2025
Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases AutoinhibitionGayatri Raj Ghosh, Tiffany H Kao, Connolly G Steigerwald, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 22, 2025
Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27BDaniel R Gold, Anand K Bery, Emile Moukheiber, et al.European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.Pageof 1