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1.
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).
Mol Genet Metab
; 139(3): 107628, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37354891
2.
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
J Med Genet
; 59(12): 1219-1226, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35961784
3.
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci
; 24(10)2023 May 17.
Article
in English
| MEDLINE | ID: mdl-37240244
4.
Genetic etiology of hearing loss in Iran.
Hum Genet
; 141(3-4): 623-631, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35050400
5.
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
Hum Genet
; 141(3-4): 401-411, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35182233
6.
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Am J Med Genet A
; 188(10): 3110-3117, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35943032
7.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Hum Genet
; 140(6): 915-931, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33496845
8.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Am J Hum Genet
; 103(4): 484-497, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30245029
9.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34230634
10.
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Clin Genet
; 100(1): 59-78, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33713422
11.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29293958
12.
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 139(12): 1565-1574, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32562050
13.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Hum Genet
; 139(10): 1315-1323, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32382995
14.
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
J Hum Genet
; 65(7): 609-617, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32231217
15.
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Int J Mol Sci
; 21(11)2020 May 31.
Article
in English
| MEDLINE | ID: mdl-32486382
16.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Genet Med
; 21(4): 948-954, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30245514
17.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2239-2247, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30894701
18.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2409, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31114025
19.
Human cochlear diffusion from the cerebrospinal fluid space with gadolinium contrast.
Mol Ther
; 31(9): 2566-2569, 2023 09 06.
Article
in English
| MEDLINE | ID: mdl-37582360
20.
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
J Med Genet
; 55(8): 555-560, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29703829