Detalhe da pesquisa
1.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med;
24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36066546
2.
Unravelling genetic variants of a swedish family with high risk of prostate cancer.
Hered Cancer Clin Pract;
20(1): 28, 2022 Jul 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35870994
3.
Identification of known and novel familial cancer genes in Swedish colorectal cancer families.
Int J Cancer;
149(3): 627-634, 2021 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33729574
4.
Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient.
Hum Mol Genet;
28(16): 2675-2685, 2019 08 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31216356
5.
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Nature;
497(7450): 517-20, 2013 May 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23644456
6.
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Hum Mol Genet;
24(19): 5637-43, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26188007
7.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Hum Mol Genet;
23(11): 3045-53, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24403052
8.
A variant in MCF2L is associated with osteoarthritis.
Am J Hum Genet;
89(3): 446-50, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21871595
9.
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
Ann Rheum Dis;
73(12): 2130-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23989986
10.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol;
14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37273706
11.
Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.
Biomedicines;
10(5)2022 Apr 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35625741
12.
A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16.
Cancers (Basel);
14(5)2022 Feb 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35267517
13.
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
Sci Rep;
11(1): 14737, 2021 07 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34282249
14.
Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins.
J Invest Dermatol;
139(11): 2272-2280.e12, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31128203
15.
Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type.
Genome Biol;
20(1): 285, 2019 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31849330
16.
Somatic mutagenesis in satellite cells associates with human skeletal muscle aging.
Nat Commun;
9(1): 800, 2018 02 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29476074
17.
The CRP and GDNF genes do not contribute to apnea-hypopnea index or risk of obstructive sleep apnea.
Am J Respir Crit Care Med;
184(1): 143-4; author reply 144-5, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21737596
18.
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.
Nat Genet;
48(3): 318-22, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26829749
19.
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Nat Genet;
46(3): 294-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24464100
20.
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
Nat Genet;
46(5): 498-502, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24728293