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4 Article(s) on File
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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Erlich Y,
Edvardson S,
Hodges E,
Zenvirt S,
Thekkat P,
Shaag A,
Dor T,
Hannon GJ,
Elpeleg O

Genome Research
  21 (5): 658-664; May 2011   PMCID: PMC3083082
[Abstract]
[DOI]

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Edvardson S,
Shaag A,
Zenvirt S,
Erlich Y,
Hannon GJ,
Shanske AL,
Gomori JM,
Ekstein J,
Elpeleg O

American Journal of Human Genetics
  86 (1): 93-97; Jan 8 2010   PMCID: PMC2801745
[Abstract]
[DOI] [Full Text] [PDF]

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
Nielsen KB,
Sorensen S,
Cartegni L,
Corydon TJ,
Doktor TK,
Schroeder LD,
Reinert LS,
Elpeleg O,
Krainer AR,
Gregersen N,
Kjems J,
Andresen BS

American Journal of Human Genetics
  80 (3): 416-432; Mar 2007  
[Abstract]
[PDF]

Simple mutations in the coding region of three acyl-CoA dehydrogenase genes may lead to skipping of the constitutive exon due to disruption of potential splice enhancer sequences or mRNA secondary structures
Andresen BS,
Nielsen KB,
Madsen PP,
Corydon TJ,
Kjems J,
Krainer AR,
Elpeleg ON,
Schroeder LD,
Gregersen N

American Journal of Human Genetics
  71 (4): 196-196; Oct 2002  
[Full Text]


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