Detalhe da pesquisa
1.
A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
Hum Mol Genet
; 32(5): 720-731, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048850
2.
CCDC66 mutations are associated with high myopia through affected cell mitosis.
J Med Genet
; 61(3): 262-269, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852749
3.
GLRA2 gene mutations cause high myopia in humans and mice.
J Med Genet
; 60(2): 193-203, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396272
4.
Identification and functional study of a novel variant of PAX9 causing tooth agenesis.
Oral Dis
; 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515263
5.
The autism risk gene CNTN4 modulates dendritic spine formation.
Hum Mol Genet
; 31(2): 207-218, 2021 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415325
6.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
7.
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Mov Disord
; 38(7): 1282-1293, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148549
8.
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.
Hum Genet
; 141(8): 1371-1383, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35024939
9.
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet
; 105(1): 166-176, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178126
10.
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time.
Cerebellum
; 21(3): 358-367, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264505
11.
SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.
J Cell Mol Med
; 25(17): 8432-8441, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302427
12.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
13.
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
Eur J Neurol
; 28(11): 3774-3783, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255403
14.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Brain
; 143(1): 222-233, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31819945
15.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30348779
16.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294000
17.
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
Clin Genet
; 97(2): 338-346, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31674007
18.
Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration.
Hum Genomics
; 13(1): 15, 2019 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894217
19.
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
J Med Genet
; 56(4): 265-270, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194086
20.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med
; 21(12): 2744-2754, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273342