A functional and genetic analysis of SOD2 promoter variants and their contribution to age-related hearing loss

Autor: Nolan, Lisa S., Cadge, Barbara A., Gomez-Dorado, Miriam, Dawson, Sally J.

Publikováno v: In Mechanisms of Ageing and Development July-August 2013 134(7-8):298-306

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Autor: Lewis, Morag A., Nolan, Lisa S., Cadge, Barbara A., Matthews, Lois J., Schulte, Bradley A., Dubno, Judy R., Steel, Karen P., Dawson, Sally J.

Publikováno v: Lewis, M A, Nolan, L, Cadge, B A, Matthews, L J, Schulte, B A, Dubno, J R, Steel, K P & Dawson, S J 2018, ' Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes ', Bmc Medical Genomics, vol. 11, no. 1, 395 . https://doi.org/10.1186/s12920-018-0395-1
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-12 (2018)
BMC Medical Genomics

Background Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1f08e7bbb1a6411803835bf4b307ade3
https://kclpure.kcl.ac.uk/ws/files/101684726/Whole_exome_sequencing_in_LEWIS_Accepted7August2018_GOLD_VoR_CC_BY_.pdf

Additional file 10: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Autor: Lewis, Morag, Nolan, Lisa, Cadge, Barbara, Matthews, Lois, Schulte, Bradley, Dubno, Judy, Steel, Karen, Dawson, Sally

Table S6. listing individuals homozygous for very rare variants in any gene. (DOCX 15 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eb71d1f1fd05a6f55ed30f89d85882e

Additional file 6: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Autor: Lewis, Morag, Nolan, Lisa, Cadge, Barbara, Matthews, Lois, Schulte, Bradley, Dubno, Judy, Steel, Karen, Dawson, Sally

Table S2. detailing primers used for confirming selected variants. (DOCX 20 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7e24ab26c070d66b0fcfb545967c2

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