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Hela Azaiez
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ...
Human genetics 135, 441-450, 2016
5542016
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ...
Human mutation 39 (11), 1593-1613, 2018
4092018
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …
FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...
Journal of medical genetics 42 (7), 588-594, 2005
3802005
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
K Cryns, E Orzan, A Murgia, PLM Huygen, F Moreno, I Del Castillo, ...
Journal of medical genetics 41 (3), 147-154, 2004
3192004
Genomic landscape and mutational signatures of deafness-associated genes
H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ...
The American Journal of Human Genetics 103 (4), 484-497, 2018
2702018
Copy number variants are a common cause of non-syndromic hearing loss
AE Shearer, DL Kolbe, H Azaiez, CM Sloan, KL Frees, AE Weaver, ...
Genome medicine 6, 1-10, 2014
2002014
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
1712014
Genotype–phenotype correlations for SLC26A4-related deafness
H Azaiez, T Yang, S Prasad, JL Sorensen, CJ Nishimura, WJ Kimberling, ...
Human genetics 122, 451-457, 2007
1462007
gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration
J Orvis, B Gottfried, J Kancherla, RS Adkins, Y Song, AA Dror, D Olley, ...
Nature methods 18 (8), 843-844, 2021
1382021
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1272014
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies
F Bu, NG Borsa, MB Jones, E Takanami, C Nishimura, JJ Hauer, H Azaiez, ...
Journal of the American Society of Nephrology 27 (4), 1245-1253, 2016
1232016
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
CM Sloan-Heggen, M Babanejad, M Beheshtian, AC Simpson, KT Booth, ...
Journal of medical genetics 52 (12), 823-829, 2015
1202015
TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss
H Azaiez, KT Booth, F Bu, P Huygen, SB Shibata, AE Shearer, D Kolbe, ...
Human mutation 35 (7), 819-823, 2014
1162014
GJB2: The spectrum of deafness‐causing allele variants and their phenotype
H Azaiez, GP Chamberlin, SM Fischer, CL Welp, SD Prasad, RT Taggart, ...
Human mutation 24 (4), 305-311, 2004
1112004
Consanguinity, endogamy, and genetic disorders in Tunisia
N Ben Halim, N Ben Alaya Bouafif, L Romdhane, R Kefi Ben Atig, ...
Journal of community genetics 4, 273-284, 2013
1072013
A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression
E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, ...
Clinical genetics 78 (3), 267-274, 2010
1012010
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
L Romdhane, R Kefi, H Azaiez, NB Halim, K Dellagi, S Abdelhak
Orphanet journal of rare diseases 7, 1-11, 2012
912012
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ...
Genetics in Medicine 21 (10), 2239-2247, 2019
822019
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
V Michel, KT Booth, P Patni, M Cortese, H Azaiez, A Bahloul, K Kahrizi, ...
EMBO Molecular Medicine 9 (12), 1711-1731, 2017
802017
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice
H Azaiez, AR Decker, KT Booth, AC Simpson, AE Shearer, PLM Huygen, ...
PLoS genetics 11 (3), e1005137, 2015
632015
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