1 |
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
61
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Lu J...Wu H
|
32428919 |
2020 |
2 |
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness.
61
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Lu X...Liu Y
|
31972369 |
2020 |
3 |
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
61
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Wu D...Zhang L
|
32048449 |
2020 |
4 |
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.
61
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Morell RJ...Hoa M
|
32152201 |
2020 |
5 |
Functions of Vertebrate Ferlins.
61
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Bulankina AV...Thoms S
|
32106631 |
2020 |
6 |
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice.
61
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Men Y...Gao J
|
30159668 |
2019 |
7 |
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
61
|
Scheidecker S...Dollfus H
|
31116475 |
2019 |
8 |
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
61
|
Mucha BE...Campeau PM
|
30245510 |
2019 |
9 |
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B.
61
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Li Y...Zhu B
|
30826590 |
2019 |
10 |
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
61
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Booth KT...Smith SD
|
30245514 |
2019 |
11 |
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
61
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Shin DH...Gee HY
|
30556268 |
2019 |
12 |
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
61
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Faridi R...Friedman TB
|
30461122 |
2019 |
13 |
Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.
61
|
Conte G...Di Berardino F
|
31390618 |
2019 |
14 |
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
61
|
Li C...Tekin M
|
30610177 |
2019 |
15 |
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder.
61
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Chen K...Jiang H
|
30368385 |
2018 |
16 |
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
61
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Jung J...Gee HY
|
30413759 |
2018 |
17 |
Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report.
61
|
Ou YH...Liu CS
|
30335006 |
2018 |
18 |
[Analysis of audiological characteristics and genetic background in patients with nonsyndromic deafness and mitochondrial DNA 1555A>G mutation].
61
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Zhuo Y...Zheng B
|
30298482 |
2018 |
19 |
Structural plasticity of the HHD2 domain of whirlin.
61
|
Delhommel F...Wolff N
|
30053338 |
2018 |
20 |
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
61
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Krause A...Ramsay M
|
30169122 |
2018 |
21 |
Chronic prenatal hypoxia impairs cochlear development, a mechanism involving connexin26 expression and promoter methylation.
61
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Lin J...Zheng M
|
29207085 |
2018 |
22 |
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.
61
|
Shang H...Liu X
|
29568747 |
2018 |
23 |
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
61
|
Wang X...Wu H
|
29849566 |
2018 |
24 |
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear.
61
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Li P...Gao J
|
30123247 |
2018 |
25 |
Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.
61
|
Tlili A...Hadj Kacem H
|
29016196 |
2017 |
26 |
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.
61
|
Tian C...Johnson KR
|
28934385 |
2017 |
27 |
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
61
|
Neuhaus C...Bolz HJ
|
28944237 |
2017 |
28 |
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
61
|
Kasakura-Kimura N...Matsunaga T
|
28271504 |
2017 |
29 |
Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China.
61
|
Pan J...Wang C
|
28583500 |
2017 |
30 |
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice.
61
|
Wang Y...Xu Z
|
29255404 |
2017 |
31 |
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
61
|
Wang Q...Liu Y
|
28099493 |
2017 |
32 |
Noninvasive Test for Mitochondrial DNA A1555G Mutation Associated with Deafness.
61
|
Fan W...Xue L
|
28164482 |
2017 |
33 |
[Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family].
61
|
Dai X...Cai WQ
|
29798269 |
2016 |
34 |
Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice.
61
|
Chen M...Xie DH
|
27693694 |
2016 |
35 |
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
61
|
Rehman AU...Friedman TB
|
27375115 |
2016 |
36 |
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
61
|
de Moraes VCS...Dossena S
|
26752218 |
2016 |
37 |
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
61
|
|
27494218 |
2016 |
38 |
Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.
61
|
Li Y...Zhu B
|
27176802 |
2016 |
39 |
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
61
|
Delmaghani S...Petit C
|
27259055 |
2016 |
40 |
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.
61
|
Alves RM...Sartorato EL
|
27230773 |
2016 |
41 |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
61
|
Bademci G...Tekin M
|
26226137 |
2016 |
42 |
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
61
|
Seco CZ...Kremer H
|
26173970 |
2016 |
43 |
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice.
61
|
Hu J...Zheng QY
|
26748055 |
2016 |
44 |
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
61
|
Masuda M...Matsunaga T
|
26631968 |
2016 |
45 |
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
61
|
Chen P...Wu H
|
27965898 |
2016 |
46 |
Auditory Pathology in a Transgenic mtTFB1 Mouse Model of Mitochondrial Deafness.
61
|
McKay SE...Shadel GS
|
26552864 |
2015 |
47 |
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
61
|
Amorini M...Rigoli L
|
26096904 |
2015 |
48 |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
61
|
Ammar-Khodja F...Petit C
|
26029705 |
2015 |
49 |
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
61
|
Simon M...Riazuddin S
|
25807530 |
2015 |
50 |
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
61
|
Strazisar BG...Writzl K
|
25557349 |
2015 |