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Clinical Case Reports|April 19, 2019
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variantsAditi Gupta, Sarah A Ewing, Deborah L Renaud, et al.The Neurologist|August 15, 2023
Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi AnemiaNabeela Nathoo, Ralitza H Gavrilova, Jorge A Trejo-Lopez, et al.American Journal of Medical Genetics. Part A|March 22, 2017
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotypeNicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 7, 2012
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgiaChristopher J Klein, Yanhong Wu, Dean H Kilfoyle, et al.American Journal of Medical Genetics. Part A|October 23, 2018
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, et al.International Journal of Radiation Oncology, Biology, Physics|September 13, 2006
Multiple sclerosis, brain radiotherapy, and risk of neurotoxicity: the Mayo Clinic experienceRobert C Miller, Daniel H Lachance, Claudia F Lucchinetti, et al.Pediatric Neurology|January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelayDerek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 8, 2014
Application of whole exome sequencing in undiagnosed inherited polyneuropathiesChristopher J Klein, Sumit Middha, Xiaohui Duan, et al.Journal of Clinical Immunology|March 28, 2022
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical ExemplarAgnes Donko, Douglas B Kuhns, Margot A Cousin, et al.Molecular Genetics and Metabolism Reports|August 24, 2017
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patientsFilippo Pinto Vairo, Nicole J Boczek, Margot A Cousin, et al.Pageof 6