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.
Massive parallel sequencing in a family with rectal cancer.
Hered Cancer Clin Pract
; 19(1): 23, 2021 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827643
3.
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.
J Genet Couns
; 26(3): 447-454, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480089
4.
Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.
Genomics
; 105(3): 150-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25543032
5.
Rare copy number variants are common in young children with autism spectrum disorder.
Acta Paediatr
; 104(6): 610-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25661985
6.
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.
Am J Med Genet A
; 164A(12): 3083-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25251319
7.
Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.
Fetal Diagn Ther
; 36(4): 326-32, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25059832
8.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
9.
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.
Mol Genet Genomic Med
; 8(2): e1084, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837127
10.
Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia.
EBioMedicine
; 59: 102872, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32680723
11.
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
PLoS One
; 14(1): e0210017, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615648
12.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Genome Med
; 11(1): 68, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694722
13.
Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.
PLoS One
; 11(5): e0156088, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195496
14.
Fetal calcifications are associated with chromosomal abnormalities.
PLoS One
; 10(4): e0123343, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923652
15.
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
PLoS One
; 9(1): e85313, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24416387