Detalhe da pesquisa
1.
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Cell
; 154(2): 452-64, 2013 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23870131
2.
A cornucopia of candidates for deafness.
Cell
; 150(5): 879-81, 2012 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939617
3.
Reversal of an existing hearing loss by gene activation in Spns2 mutant mice.
Proc Natl Acad Sci U S A
; 120(34): e2307355120, 2023 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552762
4.
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
PLoS Genet
; 19(11): e1011058, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38011198
5.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Proc Natl Acad Sci U S A
; 119(26): e2204084119, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727972
6.
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.
BMC Biol
; 20(1): 150, 2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761239
7.
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.
BMC Biol
; 20(1): 67, 2022 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296311
8.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
PLoS Biol
; 17(4): e3000194, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973865
9.
miR-96 is required for normal development of the auditory hindbrain.
Hum Mol Genet
; 27(5): 860-874, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325119
10.
Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.
Hum Mol Genet
; 25(12): 2393-2403, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27056980
11.
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
PLoS Genet
; 11(7): e1005386, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197441
12.
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.
Hum Mol Genet
; 24(3): 609-24, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25217574
13.
Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.
PLoS Genet
; 10(10): e1004688, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356849
14.
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.
PLoS Genet
; 10(10): e1004705, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340873
15.
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors.
J Neurosci
; 35(7): 3073-84, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25698744
16.
The acquisition of mechano-electrical transducer current adaptation in auditory hair cells requires myosin VI.
J Physiol
; 594(13): 3667-81, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27111754
17.
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
Hum Mol Genet
; 23(23): 6407-18, 2014 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060954
18.
Presynaptic maturation in auditory hair cells requires a critical period of sensory-independent spiking activity.
Proc Natl Acad Sci U S A
; 110(21): 8720-5, 2013 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23650376
19.
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 998-1010, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23200864
20.
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
Proc Natl Acad Sci U S A
; 109(34): 13775-80, 2012 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22872862