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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. DiStefano MT, et al. Among authors: rehm hl. Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0553-7. Genet Med. 2019. PMID: 31114025 Free article.
A new age in the genetics of deafness.
Rehm HL, Morton CC. Rehm HL, et al. Genet Med. 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009. Genet Med. 1999. PMID: 11258632 Free article. Review.
Connexin 26 studies in patients with sensorineural hearing loss.
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Kenna MA, et al. Among authors: rehm hl. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. doi: 10.1001/archotol.127.9.1037. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11556849
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: rehm hl. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
An overview of custom array sequencing.
Kothiyal P, Cox S, Ebert J, Aronow BJ, Greinwald JH, Rehm HL. Kothiyal P, et al. Among authors: rehm hl. Curr Protoc Hum Genet. 2009 Apr;Chapter 7:Unit 7.17. doi: 10.1002/0471142905.hg0717s61. Curr Protoc Hum Genet. 2009. PMID: 19360699 Free PMC article.
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA, Feldman HA, Neault MW, Frangulov A, Wu BL, Fligor B, Rehm HL. Kenna MA, et al. Among authors: rehm hl. Arch Otolaryngol Head Neck Surg. 2010 Jan;136(1):81-7. doi: 10.1001/archoto.2009.202. Arch Otolaryngol Head Neck Surg. 2010. PMID: 20083784 Free PMC article.
Temporal bone abnormalities in children with GJB2 mutations.
Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD. Kenna MA, et al. Among authors: rehm hl. Laryngoscope. 2011 Mar;121(3):630-5. doi: 10.1002/lary.21414. Epub 2011 Feb 4. Laryngoscope. 2011. PMID: 21298644 Free PMC article.
360 results