Associated Papers
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Schubert S et al.
Molecular and Cellular Probes, 2015
Integrative data mining highlights candidate genes for monogenic myopathies.
Abath Neto O et al.
Plos One, 2014
25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Javaher P et al.
Fertility and Sterility, 2012
Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
Hering R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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