Etiology
Naz S
Hum Genet
2022 Apr;141(3-4):633-648.
Epub 2021 Jul 25
doi: 10.1007/s00439-021-02320-0.
PMID: 34308486
Shen J,
Oza AM,
Del Castillo I,
Duzkale H,
Matsunaga T,
Pandya A,
Kang HP,
Mar-Heyming R,
Guha S,
Moyer K,
Lo C,
Kenna M,
Alexander JJ,
Zhang Y,
Hirsch Y,
Luo M,
Cao Y,
Wai Choy K,
Cheng YF,
Avraham KB,
Hu X,
Garrido G,
Moreno-Pelayo MA,
Greinwald J,
Zhang K,
Zeng Y,
Brownstein Z,
Basel-Salmon L,
Davidov B,
Frydman M,
Weiden T,
Nagan N,
Willis A,
Hemphill SE,
Grant AR,
Siegert RK,
DiStefano MT,
Amr SS,
Rehm HL,
Abou Tayoun AN;
ClinGen Hearing Loss Working Group
Genet Med
2019 Nov;21(11):2442-2452.
Epub 2019 Jun 4
doi: 10.1038/s41436-019-0535-9.
PMID: 31160754Free PMC Article
Zhang M,
Han Y,
Zhang F,
Bai X,
Wang H
Acta Otolaryngol
2019 Jul;139(7):612-617.
Epub 2019 May 20
doi: 10.1080/00016489.2019.1609699.
PMID: 31107121
Faridi R,
Tona R,
Brofferio A,
Hoa M,
Olszewski R,
Schrauwen I,
Assir MZK,
Bandesha AA,
Khan AA,
Rehman AU,
Brewer C,
Ahmed W,
Leal SM,
Riazuddin S,
Boyden SE,
Friedman TB
Hum Mutat
2019 Feb;40(2):162-176.
Epub 2018 Dec 12
doi: 10.1002/humu.23689.
PMID: 30461122Free PMC Article
Xu T,
Zhu W,
Wang P
Eur Arch Otorhinolaryngol
2019 Jan;276(1):11-16.
Epub 2018 Oct 26
doi: 10.1007/s00405-018-5160-8.
PMID: 30367262
Diagnosis
Gan NS,
Oziębło D,
Skarżyński H,
Ołdak M
Audiol Neurootol
2023;28(5):327-337.
Epub 2023 Apr 28
doi: 10.1159/000529464.
PMID: 37121227
Freeman L,
Righetti S,
Delatycki MB,
Scully JL,
Kirk EP
Genet Med
2022 Sep;24(9):1803-1813.
Epub 2022 Jun 3
doi: 10.1016/j.gim.2022.05.005.
PMID: 35659827
Wu D,
Huang W,
Xu Z,
Li S,
Zhang J,
Chen X,
Tang Y,
Qiu J,
Wang Z,
Duan X,
Zhang L
Mol Genet Genomic Med
2020 Apr;8(4):e1177.
Epub 2020 Feb 12
doi: 10.1002/mgg3.1177.
PMID: 32048449Free PMC Article
Ben-Yosef T,
Friedman TB
Trends Mol Med
2003 Nov;9(11):496-502.
doi: 10.1016/j.molmed.2003.09.004.
PMID: 14604828
Zeviani M,
Tiranti V,
Piantadosi C
Medicine (Baltimore)
1998 Jan;77(1):59-72.
doi: 10.1097/00005792-199801000-00006.
PMID: 9465864
Therapy
Aliazami F,
Gilani S,
Farhud D,
Naraghi M,
Afshari M,
Eslami M
Int J Pediatr Otorhinolaryngol
2023 May;168:111512.
Epub 2023 Mar 29
doi: 10.1016/j.ijporl.2023.111512.
PMID: 37086676
Salame M,
Bonnet C,
Moctar ECM,
Brahim SM,
Dedy A,
Vetah LA,
Veten F,
Hamed CT,
Petit C,
Houmeida A
Eur Arch Otorhinolaryngol
2023 Sep;280(9):4057-4063.
Epub 2023 Mar 16
doi: 10.1007/s00405-023-07907-z.
PMID: 36928321
Kousha A,
Reed M,
Else S
BMJ Case Rep
2021 Mar 16;14(3)
doi: 10.1136/bcr-2020-241159.
PMID: 33727300Free PMC Article
Xu T,
Zhu W,
Wang P
Eur Arch Otorhinolaryngol
2019 Jan;276(1):11-16.
Epub 2018 Oct 26
doi: 10.1007/s00405-018-5160-8.
PMID: 30367262
Ou YH,
Chen AW,
Fan JY,
Cheng WL,
Lin TT,
Chen MK,
Liu CS
Medicine (Baltimore)
2018 Oct;97(42):e12878.
doi: 10.1097/MD.0000000000012878.
PMID: 30335006Free PMC Article
Prognosis
Dianatpour M,
Smith E,
Hashemi SB,
Farazifard MA,
Nezafat N,
Razban V,
Mani A
Gene
2021 Apr 30;778:145464.
Epub 2021 Jan 29
doi: 10.1016/j.gene.2021.145464.
PMID: 33524517Free PMC Article
Zhang M,
Han Y,
Zhang F,
Bai X,
Wang H
Acta Otolaryngol
2019 Jul;139(7):612-617.
Epub 2019 May 20
doi: 10.1080/00016489.2019.1609699.
PMID: 31107121
Chen K,
Liu M,
Wu X,
Zong L,
Jiang H
Int J Pediatr Otorhinolaryngol
2018 Dec;115:19-23.
Epub 2018 Sep 14
doi: 10.1016/j.ijporl.2018.09.008.
PMID: 30368385
Yan D,
Kannan-Sundhari A,
Vishwanath S,
Qing J,
Mittal R,
Kameswaran M,
Liu XZ
Genet Test Mol Biomarkers
2015 Sep;19(9):512-27.
Epub 2015 Jul 17
doi: 10.1089/gtmb.2015.0023.
PMID: 26186295Free PMC Article
Matsunaga T
Keio J Med
2009 Dec;58(4):216-22.
doi: 10.2302/kjm.58.216.
PMID: 20037285
Clinical prediction guides
Bademci G,
Lachgar-Ruiz M,
Deokar M,
Zafeer MF,
Abad C,
Yildirim Baylan M,
Ingham NJ,
Chen J,
Sineni CJ,
Vadgama N,
Karakikes I,
Guo S,
Duman D,
Singh N,
Harlalka G,
Jain SP,
Chioza BA,
Walz K,
Steel KP,
Nasir J,
Tekin M
Proc Natl Acad Sci U S A
2022 Jun 28;119(26):e2204084119.
Epub 2022 Jun 21
doi: 10.1073/pnas.2204084119.
PMID: 35727972Free PMC Article
Al Mutery A,
Mahfood M,
Chouchen J,
Tlili A
Hum Genet
2022 Apr;141(3-4):595-605.
Epub 2021 Aug 2
doi: 10.1007/s00439-021-02323-x.
PMID: 34338889
Dianatpour M,
Smith E,
Hashemi SB,
Farazifard MA,
Nezafat N,
Razban V,
Mani A
Gene
2021 Apr 30;778:145464.
Epub 2021 Jan 29
doi: 10.1016/j.gene.2021.145464.
PMID: 33524517Free PMC Article
Krause A,
Seymour H,
Ramsay M
Annu Rev Genomics Hum Genet
2018 Aug 31;19:149-175.
doi: 10.1146/annurev-genom-083117-021256.
PMID: 30169122
Matsunaga T
Keio J Med
2009 Dec;58(4):216-22.
doi: 10.2302/kjm.58.216.
PMID: 20037285