Associated Papers
Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.
Reinoso-Castillo A et al.
Biochemical Genetics, 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_MOESM10_ESM.xlsx › MB-SHH
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-12.xlsx › TableS11A-germline_snv_indel
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
36672810 (PubMed )
Supplement: genes-14-00069-s001.zip › genes-2004703-supplementary.pdf
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.
Figueroa-Ildefonso E et al.
Genes, 2019
Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
Paz-y-Miño C et al.
International Journal of Pediatric Otorhinolaryngology, 2014
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