Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Phenotype.
Connection Strength

0.716
  1. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan; 52(1):56-64.
    View in: PubMed
    Score: 0.167
  2. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579.
    View in: PubMed
    Score: 0.058
  3. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar; 138(3):241-256.
    View in: PubMed
    Score: 0.057
  4. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9.
    View in: PubMed
    Score: 0.048
  5. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Ann Neurol. 2015 Apr; 77(4):668-74.
    View in: PubMed
    Score: 0.043
  6. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. . 2015 Feb; 167A(2):296-312.
    View in: PubMed
    Score: 0.043
  7. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One. 2012; 7(4):e35462.
    View in: PubMed
    Score: 0.035
  8. New therapeutic approaches to spinal muscular atrophy. Curr Neurol Neurosci Rep. 2012 Feb; 12(1):42-53.
    View in: PubMed
    Score: 0.035
  9. Of SMN in mice and men: a therapeutic opportunity. J Clin Invest. 2011 Aug; 121(8):2978-81.
    View in: PubMed
    Score: 0.033
  10. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7.
    View in: PubMed
    Score: 0.020
  11. Diagnosis and treatment of neurotransmitter-related disorders. Neurol Clin. 2002 Nov; 20(4):1143-61, viii.
    View in: PubMed
    Score: 0.018
  12. A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. Eur J Med Genet. 2020 Dec; 63(12):104063.
    View in: PubMed
    Score: 0.016
  13. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.016
  14. Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype. Neurobiol Dis. 2020 07; 141:104881.
    View in: PubMed
    Score: 0.015
  15. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology. 1999 Oct 12; 53(6):1205-11.
    View in: PubMed
    Score: 0.015
  16. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619.
    View in: PubMed
    Score: 0.014
  17. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017 Aug; 73:101-105.
    View in: PubMed
    Score: 0.012
  18. Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet. 2015 Jul 15; 24(14):4094-102.
    View in: PubMed
    Score: 0.011
  19. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014 Dec; 51(12):806-13.
    View in: PubMed
    Score: 0.010
  20. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat. 2013 Nov; 34(11):1558-67.
    View in: PubMed
    Score: 0.010
  21. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
    View in: PubMed
    Score: 0.009
  22. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011 Mar; 32(3):299-308.
    View in: PubMed
    Score: 0.008
  23. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
    View in: PubMed
    Score: 0.007
  24. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. . 2006 Dec 15; 140(24):2797-801.
    View in: PubMed
    Score: 0.006
  25. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
    View in: PubMed
    Score: 0.005
  26. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. . 2004 Oct 15; 130A(3):307-10.
    View in: PubMed
    Score: 0.005
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.