Detalhe da pesquisa
1.
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Hum Mol Genet
; 32(15): 2411-2421, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154571
2.
Trans-ancestry meta-analysis of genome wide association studies of inhibitory control.
Mol Psychiatry
; 28(10): 4175-4184, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37500827
3.
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
J Med Genet
; 59(1): 46-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257509
4.
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
5.
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
BMC Med Genet
; 20(1): 68, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31046701
6.
X-Linked Glomerulopathy Due to COL4A5 Founder Variant.
Am J Kidney Dis
; 71(3): 441-445, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198386
7.
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
J Am Soc Nephrol
; 27(6): 1861-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26453610
8.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Brain
; 138(Pt 6): 1505-17, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25808372
9.
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
J Med Genet
; 51(12): 797-805, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293953
10.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Eur J Hum Genet
; 31(7): 815-823, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072551
11.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
medRxiv
; 2023 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778260
12.
High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis.
Ann Rheum Dis
; 70(4): 690-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21242233
13.
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Ophthalmic Genet
; 41(5): 457-464, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32689861
14.
Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.
Eur J Hum Genet
; 16(1): 105-14, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17805225
15.
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Invest Ophthalmol Vis Sci
; 58(3): 1736-1742, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28324114
16.
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Hum Mutat
; 25(1): 38-44, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15580560
17.
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Can J Cardiol
; 30(2): 181-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24461919
18.
Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies.
BMC Proc
; 5 Suppl 9: S11, 2011 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22373114
19.
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
PLoS One
; 5(10): e13314, 2010 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967208
20.
Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study.
BMC Proc
; 3 Suppl 7: S117, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20017982