Associated Papers
A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.
Ahmadkhani A et al.
Journal of Medical Case Reports, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 2023
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Rabie EA et al.
Genes, 2022
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B et al.
American Journal of Medical Genetics. Part A, 2021
Novel TSPEAR mutations in non-syndromic oligodontia.
Song JS et al.
Oral Diseases, 2020
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R et al.
Human Genetics, 2018
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