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
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
Chen Y,
Wang Z,
Wang Z,
Chen D,
Chai Y,
Pang X,
Sun L,
Wang X,
Yang T,
Wu H
PLoS One
2015;10(5):e0127879.
Epub 2015 May 26
doi: 10.1371/journal.pone.0127879.
PMID: 26011067Free PMC Article
Diagnosis
Zhu GJ,
Huang Y,
Zhang L,
Yan K,
Qiu C,
He Y,
Liu Q,
Zhu C,
Morín M,
Moreno-Pelayo MÁ,
Zhu MS,
Cao X,
Zhou H,
Qian X,
Xu Z,
Chen J,
Gao X,
Wan G
EMBO Mol Med
2023 Nov 8;15(11):e17611.
Epub 2023 Sep 11
doi: 10.15252/emmm.202317611.
PMID: 37691516Free PMC Article
Shearer AE,
Smith RJ
Curr Opin Pediatr
2012 Dec;24(6):679-86.
doi: 10.1097/MOP.0b013e3283588f5e.
PMID: 23042251Free 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
Skvorak Giersch AB,
Morton CC
Curr Opin Pediatr
1999 Dec;11(6):551-7.
doi: 10.1097/00008480-199912000-00014.
PMID: 10590915
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
Bindu LH,
Reddy PP
Int J Audiol
2008 Nov;47(11):702-7.
doi: 10.1080/14992020802215862.
PMID: 19031229
Prognosis
Ramzan M,
Philippe C,
Belyantseva IA,
Nakano Y,
Fenollar-Ferrer C,
Tona R,
Yousaf R,
Basheer R,
Imtiaz A,
Faridi R,
Munir Z,
Idrees H,
Salman M,
Nambot S,
Vitobello A,
Kartti S,
Zarrik O,
Witmer PD,
Sobreria N,
Ibrahimi A,
Banfi B,
Moutton S,
Friedman TB,
Naz S
Hum Mutat
2021 Oct;42(10):1321-1335.
Epub 2021 Aug 1
doi: 10.1002/humu.24260.
PMID: 34265170Free 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
Ramzan M,
Philippe C,
Belyantseva IA,
Nakano Y,
Fenollar-Ferrer C,
Tona R,
Yousaf R,
Basheer R,
Imtiaz A,
Faridi R,
Munir Z,
Idrees H,
Salman M,
Nambot S,
Vitobello A,
Kartti S,
Zarrik O,
Witmer PD,
Sobreria N,
Ibrahimi A,
Banfi B,
Moutton S,
Friedman TB,
Naz S
Hum Mutat
2021 Oct;42(10):1321-1335.
Epub 2021 Aug 1
doi: 10.1002/humu.24260.
PMID: 34265170Free 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
Dodson KM,
Blanton SH,
Welch KO,
Norris VW,
Nuzzo RL,
Wegelin JA,
Marin RS,
Nance WE,
Pandya A,
Arnos KS
Am J Med Genet A
2011 May;155A(5):993-1000.
Epub 2011 Apr 4
doi: 10.1002/ajmg.a.33828.
PMID: 21465647Free PMC Article
Matsunaga T
Keio J Med
2009 Dec;58(4):216-22.
doi: 10.2302/kjm.58.216.
PMID: 20037285