Associated Papers
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Mazel B et al.
American Journal of Medical Genetics. Part A, 2022
Unravelling the disease mechanism for TSPYL1 deficiency.
Buyse G et al.
Human Molecular Genetics, 2020
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Slater B et al.
American Journal of Medical Genetics. Part A, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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
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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