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2. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing. Sun Y; Zhang Z; Cheng J; Lu Y; Yang CL; Luo YY; Yang G; Yang H; Zhu L; Zhou J; Yao HQ J Hum Genet; 2015 Jun; 60(6):299-304. PubMed ID: 25809937 [TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families. Pan J; Ma S; Teng Y; Liang D; Li Z; Wu L Clin Chim Acta; 2022 Jul; 532():53-60. PubMed ID: 35640668 [TBL] [Abstract][Full Text] [Related]
4. Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. Park G; Gim J; Kim AR; Han KH; Kim HS; Oh SH; Park T; Park WY; Choi BY BMC Genomics; 2013 Mar; 14():191. PubMed ID: 23506231 [TBL] [Abstract][Full Text] [Related]
5. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957 [TBL] [Abstract][Full Text] [Related]
6. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. Sommen M; Schrauwen I; Vandeweyer G; Boeckx N; Corneveaux JJ; van den Ende J; Boudewyns A; De Leenheer E; Janssens S; Claes K; Verstreken M; Strenzke N; Predöhl F; Wuyts W; Mortier G; Bitner-Glindzicz M; Moser T; Coucke P; Huentelman MJ; Van Camp G Hum Mutat; 2016 Aug; 37(8):812-9. PubMed ID: 27068579 [TBL] [Abstract][Full Text] [Related]
7. Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss. Ishino T; Ogawa Y; Sonoyama T; Taruya T; Kono T; Hamamoto T; Ueda T; Takeno S; Moteki H; Nishio SY; Usami SI; Nagano Y; Yoshimura A; Yoshikawa K; Kato M; Ichimoto M; Watanabe R Otol Neurotol; 2021 Aug; 42(7):e866-e874. PubMed ID: 33859130 [TBL] [Abstract][Full Text] [Related]
8. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. Pater JA; Benteau T; Griffin A; Penney C; Stanton SG; Predham S; Kielley B; Squires J; Zhou J; Li Q; Abdelfatah N; O'Rielly DD; Young TL Hum Genet; 2017 Jan; 136(1):107-118. PubMed ID: 27838790 [TBL] [Abstract][Full Text] [Related]
9. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. Sun Y; Chen J; Sun H; Cheng J; Li J; Lu Y; Lu Y; Jin Z; Zhu Y; Ouyang X; Yan D; Dai P; Han D; Yang W; Wang R; Liu X; Yuan H J Hum Genet; 2011 Jan; 56(1):64-70. PubMed ID: 21150918 [TBL] [Abstract][Full Text] [Related]
10. Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment. Sang Q; Mei H; Kuermanhan A; Feng R; Guo L; Qu R; Xu Y; Li H; Jin L; He L; Wang L Mol Genet Genomics; 2015 Jun; 290(3):1135-9. PubMed ID: 25557914 [TBL] [Abstract][Full Text] [Related]
11. Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. Timms AE; Dorschner MO; Wechsler J; Choi KY; Kirkwood R; Girirajan S; Baker C; Eichler EE; Korvatska O; Roche KW; Horwitz MS; Tsuang DW JAMA Psychiatry; 2013 Jun; 70(6):582-90. PubMed ID: 23553203 [TBL] [Abstract][Full Text] [Related]
12. Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies. Bai X; Lv H; Zhang F; Liu J; Fan Z; Xu L; Han Y; Chai R; Li J; Wang H Am J Med Genet A; 2014 Dec; 164A(12):3052-60. PubMed ID: 25250959 [TBL] [Abstract][Full Text] [Related]
13. Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing. Choi HS; Kim AR; Kim SH; Choi BY Eur Arch Otorhinolaryngol; 2016 May; 273(5):1123-9. PubMed ID: 26015337 [TBL] [Abstract][Full Text] [Related]
14. MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation. Motavaf M; Soveizi M; Maleki M; Mahdieh N Int J Pediatr Otorhinolaryngol; 2017 May; 96():35-38. PubMed ID: 28390610 [TBL] [Abstract][Full Text] [Related]
15. [Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by Yang JY; Wang QQ; Han MY; Huang SS; Kang DY; Zhang X; Yang SY; Dai P; Yuan YY Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2023 May; 58(5):460-469. PubMed ID: 37114731 [No Abstract] [Full Text] [Related]
16. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Salazar-Silva R; Dantas VLG; Alves LU; Batissoco AC; Oiticica J; Lawrence EA; Kawafi A; Yang Y; Nicastro FS; Novaes BC; Hammond C; Kague E; Mingroni-Netto RC Hum Mol Genet; 2021 Jan; 29(22):3691-3705. PubMed ID: 33326993 [TBL] [Abstract][Full Text] [Related]
17. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. Azaiez H; Decker AR; Booth KT; Simpson AC; Shearer AE; Huygen PL; Bu F; Hildebrand MS; Ranum PT; Shibata SB; Turner A; Zhang Y; Kimberling WJ; Cornell RA; Smith RJ PLoS Genet; 2015 Mar; 11(3):e1005137. PubMed ID: 25816005 [TBL] [Abstract][Full Text] [Related]
19. Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss. Liu F; Hu J; Xia W; Hao L; Ma J; Ma D; Ma Z PLoS One; 2015; 10(5):e0126602. PubMed ID: 25961296 [TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss. Pollak A; Lechowicz U; Murcia Pieńkowski VA; Stawiński P; Kosińska J; Skarżyński H; Ołdak M; Płoski R BMC Med Genet; 2017 Dec; 18(1):142. PubMed ID: 29197352 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]