| Current clinical applications of in vivo gene therapy with AAVs JR Mendell, SA Al-Zaidy, LR Rodino-Klapac, K Goodspeed, SJ Gray, ... Molecular Therapy 29 (2), 464-488, 2021 | 465 | 2021 |
| Pitt-Hopkins syndrome: a review of current literature, clinical approach, and 23-patient case series K Goodspeed, C Newsom, MA Morris, C Powell, P Evans, S Golla Journal of child neurology 33 (3), 233-244, 2018 | 70 | 2018 |
| Current knowledge of SLC6A1-related neurodevelopmental disorders K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ... Brain communications 2 (2), fcaa170, 2020 | 56 | 2020 |
| Gene transfer therapy for neurodevelopmental disorders C Ozlu, RM Bailey, S Sinnett, KD Goodspeed Developmental neuroscience 43 (3-4), 230-240, 2021 | 23 | 2021 |
| Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants IO Tuncay, NL Parmalee, R Khalil, K Kaur, A Kumar, M Jimale, JL Howe, ... NPJ Genomic Medicine 7 (1), 13, 2022 | 16 | 2022 |
| Aspartylglucosaminuria: clinical presentation and potential therapies K Goodspeed, C Feng, M Laine, TC Lund Journal of child neurology 36 (5), 403-414, 2021 | 13 | 2021 |
| Bringing everyone to the table–findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference K Goodspeed, G Bliss, D Linnehan Orphanet Journal of Rare Diseases 15, 1-12, 2020 | 12 | 2020 |
| Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications JM Bain, LAG Snyder, KL Helbig, DD Cooper, WK Chung, K Goodspeed Journal of neurodevelopmental disorders 14 (1), 40, 2022 | 8 | 2022 |
| Pitt-Hopkins syndrome: a unique case study A Tan, K Goodspeed, VB Edgar Journal of the International Neuropsychological Society 24 (9), 995-1002, 2018 | 8 | 2018 |
| SLC13A5 deficiency disorder: From genetics to gene therapy K Goodspeed, JS Liu, KL Nye, S Prasad, C Sadhu, F Tavakkoli, DA Bilder, ... Genes 13 (9), 1655, 2022 | 7 | 2022 |
| A draft conceptual model of SLC6A1 neurodevelopmental disorder K Goodspeed, LR Mosca, NC Weitzel, K Horning, EW Simon, AC Pfalzer, ... Frontiers in neuroscience 16, 1026065, 2023 | 5 | 2023 |
| SLC6A1-related neurodevelopmental disorder K Goodspeed, S Demarest, K Johannesen, J Kang, D Lal, K Angione | 4 | 2023 |
| Intrafamilial variability in SLC6A1-related neurodevelopmental disorders B Kassabian, CD Fenger, M Willems, A Aledo-Serrano, T Linnankivi, ... Frontiers in Neuroscience 17, 1219262, 2023 | 4 | 2023 |
| Electroencephalographic (EEG) biomarkers in genetic neurodevelopmental disorders K Goodspeed, D Armstrong, A Dolce, P Evans, R Said, P Tsai, D Sirsi Journal of child neurology 38 (6-7), 466-477, 2023 | 4 | 2023 |
| Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder S Kalvakuntla, MJ Lee, WK Chung, S Demarest, A Freed, KJ Horning, ... Frontiers in Neuroscience 17, 1024388, 2023 | 4 | 2023 |
| Gene therapy: Novel approaches to targeting monogenic epilepsies K Goodspeed, RM Bailey, S Prasad, C Sadhu, JA Cardenas, M Holmay, ... Frontiers in Neurology 13, 805007, 2022 | 4 | 2022 |
| A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management TR Khan, A Dolce, K Goodspeed BMC neurology 22 (1), 60, 2022 | 4 | 2022 |
| A cross-sectional natural history study of aspartylglucosaminuria K Goodspeed, VB Edgar, D Horton, A Lowden, P Sguina, T Booth, J Wang Molecular Genetics and Metabolism 135 (2), S49-S50, 2022 | 3 | 2022 |
| Optical coherence tomography features in brothers with aspartylglucosaminuria K Goodspeed, L Harder, S Hughes, D Conger, J Taravella, SJ Gray, ... Annals of Clinical and Translational Neurology 5 (12), 1622-1626, 2018 | 3 | 2018 |
| SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis A Stefanski, E Pérez-Palma, T Brünger, L Montanucci, C Gati, C Klöckner, ... Brain 146 (12), 5198-5208, 2023 | 2 | 2023 |
