Detalhe da pesquisa
1.
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
J Med Genet
; 61(5): 459-468, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296632
2.
Identifying Genetic Factors of Polycystic Ovary Syndrome in Women with Epilepsy: A Whole-Genome Sequencing Study.
Neuroendocrinology
; 114(3): 223-233, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827139
3.
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
Hum Genet
; 141(3-4): 401-411, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182233
4.
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
J Immunol
; 200(7): 2464-2478, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500241
5.
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
J Am Soc Nephrol
; 29(12): 2809-2819, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377230
6.
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
PLoS Genet
; 11(3): e1005137, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25816005
7.
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
J Am Soc Nephrol
; 27(4): 1245-53, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283675
8.
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
J Am Soc Nephrol
; 25(1): 55-64, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24029428
9.
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Hum Mutat
; 35(7): 819-23, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24729539
10.
NCAD v1.0: a database for non-coding variant annotation and interpretation.
J Genet Genomics
; 51(2): 230-242, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142743
11.
Exploring noncoding variants in genetic diseases: from detection to functional insights.
J Genet Genomics
; 51(2): 111-132, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181897
12.
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Genome Med
; 15(1): 116, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38111038
13.
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Clin Dev Immunol
; 2012: 370426, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23251215
14.
seGMM: A New Tool for Gender Determination From Massively Parallel Sequencing Data.
Front Genet
; 13: 850804, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35309142
15.
Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
Hum Genet
; 128(5): 549-56, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20809279
16.
Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome.
Am J Kidney Dis
; 65(6): 968-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25818678
17.
[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
Yi Chuan
; 31(1): 43-9, 2009 Jan.
Artigo
em Chinês
| MEDLINE | ID: mdl-19138900
18.
[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris].
Yi Chuan
; 30(7): 843-50, 2008 Jul.
Artigo
em Chinês
| MEDLINE | ID: mdl-18779126
19.
Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.
PLoS One
; 9(11): e112358, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25396734
20.
Factors predicting vitamin D response variation in non-Hispanic white postmenopausal women.
J Clin Endocrinol Metab
; 97(8): 2699-705, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585090