Search details
1.
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
Cell
; 174(3): 536-548.e21, 2018 07 26.
Article
in English
| MEDLINE | ID: mdl-29961578
2.
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Clin Genet
; 105(5): 584-586, 2024 05.
Article
in English
| MEDLINE | ID: mdl-38454547
3.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37977818
4.
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Hum Genet
; 142(10): 1499-1517, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37668839
5.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36807241
6.
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.
J Neurosci
; 40(15): 2976-2992, 2020 04 08.
Article
in English
| MEDLINE | ID: mdl-32152201
7.
G protein-coupled receptor Gpr115 (Adgrf4) is required for enamel mineralization mediated by ameloblasts.
J Biol Chem
; 295(45): 15328-15341, 2020 11 06.
Article
in English
| MEDLINE | ID: mdl-32868297
8.
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Hum Mol Genet
; 28(9): 1530-1547, 2019 05 01.
Article
in English
| MEDLINE | ID: mdl-30602030
9.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Clin Genet
; 99(2): 226-235, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33089500
10.
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
11.
Maturation arrest in early postnatal sensory receptors by deletion of the miR-183/96/182 cluster in mouse.
Proc Natl Acad Sci U S A
; 114(21): E4271-E4280, 2017 05 23.
Article
in English
| MEDLINE | ID: mdl-28484004
12.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30303587
13.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Am J Hum Genet
; 98(2): 331-8, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26805784
14.
A comparative analysis of library prep approaches for sequencing low input translatome samples.
BMC Genomics
; 19(1): 696, 2018 Sep 21.
Article
in English
| MEDLINE | ID: mdl-30241496
15.
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
J Med Genet
; 54(10): 665-673, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28780564
16.
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Am J Hum Genet
; 94(1): 144-52, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24387994
17.
Genetic causes of moderate to severe hearing loss point to modifiers.
Clin Genet
; 91(4): 589-598, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27573290
18.
Recessive mutations of TMC1 associated with moderate to severe hearing loss.
Neurogenetics
; 17(2): 115-123, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26879195
19.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23541340
20.
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
J Med Genet
; 52(8): 548-52, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25941349