Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM. Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. Eur Arch Otorhinolaryngol. 273, 2016, No 10, 3025-3034.
Alzhrani F, Alhussini R, Hudeib R, Alkaff T, Islam T, Alsanosi A. The outcome of cochlear implantation among children with genetic syndromes. Eur Arch Otorhinolaryngol. 275, 2018, No 2, 365-369.
Booth KT, Kahrizi K, Najmabadi H, Azaiez H, Smith RJ. Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 55, 2018, No 8, 555-560.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Ãlvarez R, et al. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics. 11, 2018, No 1, 58.
Chiong MA, Canson DM, Abacan MA, Baluyot MM, Cordero CP, Silao CL. Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. Orphanet J Rare Dis. 12, 2017, No 1, 7.
Corvino V, Apisa P, Malesci R, Laria C, Auletta G, Franzé A. X-linked sensorineural hearing loss: a literature review. Curr Genomics. 19, 2018, No 5, 327-338.
Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, et al. Genetics of hearing loss in the Arab population of Northern Israel. Eur J Hum Genet. 2018 Aug 23. doi: 10.1038/s41431-018-0218-z.
Fiscaletti M, Biggin A, Bennetts B, Wong K, Briody J, Pacey V, et al. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. Bone. 110, 2018, 66-75.
Gettelfinger JD, Dahl JP. Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 7, 2018, No 1, 1-8.
He X, Li X, Guo Y, Zhao Y, Dong H, Dong J, et al. Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array. Am J Audiol. 27, 2018, No 1, 57-66.
Kaheel H, Breß A, Hassan MA, Shah AA, Amin M, Bakhit YHY, et al. Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment. BMC Ear Nose Throat Disord. 18, 2018, 7. doi: 10.1186/s12901-018-0055-2.
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Auditory function in Pelizaeus-Merzbacher disease. J Neurol. 265, 2018, No 7, 1580-1589.
Niepokój K, Rygiel AM, Jurczak P, Kujko AA, Śniegórska D, Sawicka J, et al. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family. J Appl Genet. 59, 2018, No 1, 67-72.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2018 Aug 20. doi: 10.1007/s10157-018-1629-4.
Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, et al. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet. 137, 2018, No 6-7, 471-478.
Schrauwen I, Chakchouk I, Acharya A Liaqat K, Nickerson DA, Bamshad MJ, et al. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 19, 2018а, No 1, 122.
