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Familial dysautonomia.
Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Among authors: gusella jf. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.
Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Leyne M, et al. Among authors: gusella jf. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659
The GPR54 gene as a regulator of puberty.
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH. Seminara SB, et al. Among authors: gusella jf. N Engl J Med. 2003 Oct 23;349(17):1614-27. doi: 10.1056/NEJMoa035322. N Engl J Med. 2003. PMID: 14573733 Free article.
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Among authors: gusella jf. Hum Mol Genet. 2004 Feb 15;13(4):429-36. doi: 10.1093/hmg/ddh046. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709595
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Smith MJ, et al. Among authors: gusella jf. Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949514 Free PMC article.
535 results