Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855 Free PMC Article

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.

Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505 Free PMC Article

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R
Int J Pediatr Otorhinolaryngol 2013 May;77(5):714-6. Epub 2013 Feb 19 doi: 10.1016/j.ijporl.2013.01.024. PMID: 23434199

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O
Genet Test 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526. PMID: 18294049

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.

Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

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Diagnosis

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783 Free PMC Article

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P
J Assist Reprod Genet 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5. PMID: 19728075 Free PMC Article

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O
Genet Test 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526. PMID: 18294049

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
Hum Mutat 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. PMID: 16752389

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Prognosis

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.

Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

González JR, Wang W, Ballana E, Estivill X
Hum Mutat 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. PMID: 16941638 Free PMC Article

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