Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

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

0.425
  1. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A. 2014 Jan; 164A(1):17-28.
    View in: PubMed
    Score: 0.075
  2. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7.
    View in: PubMed
    Score: 0.039
  3. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003; 54 Suppl 6:S49-55.
    View in: PubMed
    Score: 0.035
  4. Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000. Neurology. 2001 Dec; 57(11 Suppl 4):S42-8.
    View in: PubMed
    Score: 0.033
  5. 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: 0.030
  6. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.030
  7. 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: 0.027
  8. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11.
    View in: PubMed
    Score: 0.025
  9. Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am J Hum Genet. 2017 02 02; 100(2):297-315.
    View in: PubMed
    Score: 0.023
  10. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4.
    View in: PubMed
    Score: 0.017
  11. 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: 0.016
  12. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet. 2011 Feb; 79(2):176-82.
    View in: PubMed
    Score: 0.015
  13. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar; 43(3):189-96.
    View in: PubMed
    Score: 0.015
  14. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64.
    View in: PubMed
    Score: 0.013
  15. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. . 2006 Dec 15; 140(24):2797-801.
    View in: PubMed
    Score: 0.012
  16. 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: 0.010
  17. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72.
    View in: PubMed
    Score: 0.007
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.