Detalhe da pesquisa
1.
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Am J Hum Genet
; 109(6): 1077-1091, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35580588
2.
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Hum Genomics
; 18(1): 23, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448978
3.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
4.
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mol Ther
; 32(3): 800-817, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243601
5.
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
J Cell Mol Med
; 28(8): e18119, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38534090
6.
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 143(3): 311-329, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459354
7.
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
8.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
9.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
10.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
11.
FGFR1 variants contributed to families with tooth agenesis.
Hum Genomics
; 17(1): 93, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833774
12.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain
; 145(9): 3095-3107, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718349
13.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
14.
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Ear Hear
; 44(6): 1464-1484, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438890
15.
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768210
16.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Hum Mutat
; 43(10): 1472-1489, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815345
17.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
18.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148116
19.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278131
20.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear Hear
; 43(3): 1049-1066, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753855