Detalhe da pesquisa
1.
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.
Ann Hum Genet
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690755
2.
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Mol Genet Genomics
; 298(2): 329-342, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454308
3.
Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Prenat Diagn
; 43(9): 1132-1141, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37355983
4.
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients.
Ann Hum Genet
; 86(4): 195-206, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312039
5.
Molecular Concordance Between Primary Breast Cancer and Matched Metastases.
Breast J
; 22(4): 420-30, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27089067
6.
Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.
Microvasc Res
; 99: 118-26, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892364
7.
Immunodeficiency associated with a nonsense mutation of IKBKB.
J Clin Immunol
; 34(8): 916-21, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25216719
8.
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.
Eur J Med Genet
; 66(3): 104706, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669590
9.
Total number of reads affects the accuracy of fetal fraction estimates in NIPT.
Mol Genet Genomic Med
; 9(4): e1653, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33687149
10.
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Clin Case Rep
; 9(7): e04507, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34306696
11.
Is MED13L-related intellectual disability a recognizable syndrome?
Eur J Med Genet
; 62(2): 129-136, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959045
12.
Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.
PLoS One
; 13(1): e0189887, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293529
13.
Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence.
Sci Rep
; 7: 43813, 2017 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276460
14.
Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data.
PLoS One
; 11(3): e0151664, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27002637
15.
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).
Bone
; 92: 145-149, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591150
16.
DamX Controls Reversible Cell Morphology Switching in Uropathogenic Escherichia coli.
mBio
; 7(4)2016 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486187
17.
Clonal expansion and linear genome evolution through breast cancer progression from pre-invasive stages to asynchronous metastasis.
Oncotarget
; 6(8): 5634-49, 2015 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25730902
18.
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.
PLoS One
; 9(3): e90272, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603890