Detalhe da pesquisa
1.
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Hum Mol Genet
; 29(11): 1882-1899, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31998945
2.
Functional assessment of variants associated with Wolfram syndrome.
Hum Mol Genet
; 28(22): 3815-3824, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600780
3.
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Hum Mol Genet
; 28(20): 3466-3474, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504499
4.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
5.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Hum Mol Genet
; 27(11): 1927-1940, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29635513
6.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
7.
Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Genet Med
; 21(5): 1083-1091, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270361
8.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Ophthalmology
; 126(6): 888-907, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653986
9.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet
; 55(11): 721-728, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049826
10.
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(3): 279-280, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435658
11.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(2): 111-127, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305691
12.
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.
Hum Mol Genet
; 24(4): 1036-44, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305075
13.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
14.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Hum Mutat
; 37(8): 812-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068579
15.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
; 23(10): 2511-26, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24412933
16.
Republished: Genetic investigations in childhood deafness.
Postgrad Med J
; 91(1077): 395-402, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187953
17.
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Ophthalmology
; 121(2): 580-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24199935
18.
The effect of the common c.2299delG mutation in USH2A on RNA splicing.
Exp Eye Res
; 122: 9-12, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607488
19.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
20.
Gentamicin, genetic variation and deafness in preterm children.
BMC Pediatr
; 14: 66, 2014 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24593698