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Susan Ann Slaugenhaupt, Ph.D.

Co-Author

This page shows the publications co-authored by Susan Slaugenhaupt and James Gusella.
Connection Strength

1.860
  1. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet. 2004 Feb 15; 13(4):429-36.
    View in: PubMed
    Score: 0.289
  2. Familial dysautonomia. Curr Opin Genet Dev. 2002 Jun; 12(3):307-11.
    View in: PubMed
    Score: 0.259
  3. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar; 68(3):598-605.
    View in: PubMed
    Score: 0.235
  4. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet. 1999 Sep; 65(3):773-8.
    View in: PubMed
    Score: 0.214
  5. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics. 2007 Sep; 90(3):389-96.
    View in: PubMed
    Score: 0.092
  6. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl). 2007 Feb; 85(2):149-61.
    View in: PubMed
    Score: 0.089
  7. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26.
    View in: PubMed
    Score: 0.079
  8. Identification of the first non-Jewish mutation in familial Dysautonomia. . 2003 May 01; 118A(4):305-8.
    View in: PubMed
    Score: 0.069
  9. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar; 72(3):749-58.
    View in: PubMed
    Score: 0.068
  10. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001 Sep; 20(9):579-86.
    View in: PubMed
    Score: 0.061
  11. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome. 2000 Jan; 11(1):81-3.
    View in: PubMed
    Score: 0.055
  12. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 1999 Jun 15; 58(3):302-9.
    View in: PubMed
    Score: 0.053
  13. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet. 1999 Apr; 64(4):1110-8.
    View in: PubMed
    Score: 0.052
  14. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenet Cell Genet. 1998; 83(3-4):236-7.
    View in: PubMed
    Score: 0.048
  15. Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A. 1995 Sep 12; 92(19):8734-8.
    View in: PubMed
    Score: 0.041
  16. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics. 1995 May 20; 27(2):355-7.
    View in: PubMed
    Score: 0.040
  17. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun; 2(6):745-9.
    View in: PubMed
    Score: 0.035
  18. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
    View in: PubMed
    Score: 0.018
  19. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55.
    View in: PubMed
    Score: 0.010
  20. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn. 1995 Sep; 15(9):817-26.
    View in: PubMed
    Score: 0.010
  21. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7859-63.
    View in: PubMed
    Score: 0.010
  22. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet. 1995 Jan; 21(1):83-8.
    View in: PubMed
    Score: 0.010
  23. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar; 6(3):314-7.
    View in: PubMed
    Score: 0.009
  24. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88.
    View in: PubMed
    Score: 0.009
  25. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141.
    View in: PubMed
    Score: 0.008
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

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.