Detalhe da pesquisa
1.
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
Acta Obstet Gynecol Scand
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38872454
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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