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| 35868845 | Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Ann Rheum Dis | 2022 |
| 36103453 | Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. | Mov Disord | 2022 |
| 35095905 | The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. | Front Immunol | 2022 |
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| 34412939 | Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Mol Genet Metab | 2021 |
| 34548659 | Author Correction: Pan-viral serology implicates enteroviruses in acute flaccid myelitis. | Nat Med | 2021 |
| 34089226 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. | Am J Med Genet A | 2021 |
| 33168705 | Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome. | Neurology | 2021 |
| 33280099 | FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. | Epilepsia | 2021 |
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