Detalhe da pesquisa
1.
Syntaxin 4 is essential for hearing in human and zebrafish.
Hum Mol Genet
; 32(7): 1184-1192, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355422
2.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
3.
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
Am J Med Genet A
; 194(4): e63478, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975178
4.
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Clin Genet
; 104(4): 499-501, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311648
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807241
6.
A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.
Cerebellum
; 22(5): 1029-1033, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987951
7.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
8.
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
Ann Hum Genet
; 86(6): 291-296, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36039988
9.
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Hum Genet
; 141(3-4): 413-430, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291353
10.
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
Hum Genet
; 141(3-4): 951-963, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410490
11.
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.
J Med Genet
; 58(11): 743-751, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32978268
12.
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
BMC Ophthalmol
; 22(1): 69, 2022 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148716
13.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710394
14.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
15.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226616
16.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1009-1018, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879837
17.
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.
BMC Ophthalmol
; 21(1): 353, 2021 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34610801
18.
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
Hum Mutat
; 41(2): 412-419, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660686
19.
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 65(2): 187-192, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656313
20.
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Exp Mol Pathol
; 115: 104471, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446860