Kathryn J. Swoboda
Affiliations: | Neuology | Massachusetts General Hospital, Boston, MA |
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Publications
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| Alves CRR, Ha LL, Yaworski R, et al. (2023) Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy. Nature Biomedical Engineering |
| Alves CRR, Ha LL, Yaworski R, et al. (2023) Base editing as a genetic treatment for spinal muscular atrophy. Biorxiv : the Preprint Server For Biology |
| Walker MA, Lerman-Sagie T, Swoboda K, et al. (2019) Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. American Journal of Medical Genetics. Part A |
| Ruhno C, McGovern VL, Avenarius MR, et al. (2019) Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human Genetics |
| Snijders Blok L, Rousseau J, Twist J, et al. (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619 |
| Margraf RL, Durtschi J, Krock B, et al. (2018) Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. Child Neurology Open. 5: 2329048X18789282 |
| Torres A, Brownstein CA, Tembulkar SK, et al. (2018) and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29 |
| Yano ST, Silver K, Young R, et al. (2017) Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatric Neurology |
| Bend EG, Si Y, Stevenson DA, et al. (2016) NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology |
| Roosing S, Hofree M, Kim S, et al. (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4 |