PubMed for id: 1690

Year	Number of Results
1991	1
1993	2
1994	1
1996	1
1997	1
1998	1
1999	3
2001	4
2002	1
2003	5
2004	2
2005	1
2006	4
2007	5
2008	3
2009	4
2010	7
2011	4
2012	4
2013	6
2014	4
2015	5
2016	4
2017	4
2018	3
2019	3
2020	4
2021	9
2022	5
2023	4
2024	1

1

Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.

Moyaert J, Gilles A, Mertens G, Lammers MJW, Gommeren H, Janssens de Varebeke S, Fransen E, Verhaert N, Denys S, van de Berg R, Pennings R, Vanderveken O, Van Rompaey V. Moyaert J, et al. Sci Rep. 2024 Jan 2;14(1):184. doi: 10.1038/s41598-023-50583-6. Sci Rep. 2024. PMID: 38167558 Free PMC article.

2

Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study).

Gommeren H, Moyaert J, Bosmans J, Mertens G, Cras P, Engelborghs S, Van Ombergen A, Gilles A, Van Dam D, Van Rompaey V. Gommeren H, et al. BMJ Open. 2023 Sep 13;13(9):e075179. doi: 10.1136/bmjopen-2023-075179. BMJ Open. 2023. PMID: 37709329 Free PMC article.

3

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE. Robijn SMM, et al. Biomolecules. 2022 Jan 27;12(2):220. doi: 10.3390/biom12020220. Biomolecules. 2022. PMID: 35204720 Free PMC article. Review.

4

Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.

Salah M, Moyaert J, Vanderveken O, Schepers S, Termote B, Van Rompaey V, Janssens de Varebeke S. Salah M, et al. Otol Neurotol. 2022 Mar 1;43(3):e348-e354. doi: 10.1097/MAO.0000000000003434. Otol Neurotol. 2022. PMID: 35020687

5

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.

JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V. JanssensdeVarebeke SPF, et al. Ear Hear. 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099. Ear Hear. 2021. PMID: 34369416 Free PMC article.

6

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.

Smits JJ, van Beelen E, Weegerink NJD, Oostrik J, Huygen PLM, Beynon AJ, Lanting CP, Kunst HPM, Schraders M, Kremer H, de Vrieze E, Pennings RJE. Smits JJ, et al. Otol Neurotol. 2021 Apr 1;42(4):e399-e407. doi: 10.1097/MAO.0000000000003004. Otol Neurotol. 2021. PMID: 33710989

7

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.

Verdoodt D, Van Camp G, Ponsaerts P, Van Rompaey V. Verdoodt D, et al. Hear Res. 2021 Mar 1;401:108162. doi: 10.1016/j.heares.2020.108162. Epub 2020 Dec 30. Hear Res. 2021. PMID: 33421658 Review.

8

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA. Danial-Farran N, et al. Eur J Hum Genet. 2021 Feb;29(2):338-342. doi: 10.1038/s41431-020-00724-6. Epub 2020 Sep 16. Eur J Hum Genet. 2021. PMID: 32939038 Free PMC article.

9

Cochlin-cleaved LCCL is a dual-armed regulator of the innate immune response in the cochlea during inflammation.

Rhyu HJ, Bae SH, Jung J, Hyun YM. Rhyu HJ, et al. BMB Rep. 2020 Sep;53(9):449-452. doi: 10.5483/BMBRep.2020.53.9.104. BMB Rep. 2020. PMID: 32635986 Free PMC article. Review.

10

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S. Booth KT, et al. Hum Genet. 2020 Dec;139(12):1565-1574. doi: 10.1007/s00439-020-02197-5. Epub 2020 Jun 19. Hum Genet. 2020. PMID: 32562050 Free PMC article.

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