Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 19R03642.xls › SNVIndel
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
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
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
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