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The Journal of Biological Chemistry|June 10, 2009
Rdh12 activity and effects on retinoid processing in the murine retinaJared D Chrispell, Kecia L Feathers, Maureen A Kane, et al.
Neurogenetics|May 4, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesClaudia Dufke, Nina Schlipf, Rebecca Schüle, et al.
Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
American Journal of Human Genetics|March 15, 2011
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal, Isabella Rau, Leila El Matri, et al.
American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.
Human Molecular Genetics|January 5, 2002
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova, Matthew M Hims, Hanno Bolz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 2, 2010
Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performanceGeorg Winterer, Kirstin Mittelstrass, Ina Giegling, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Molecular Vision|June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testingJohn Neidhardt, Esther Glaus, Birgit Lorenz, et al.
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