Detalhe da pesquisa
1.
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
Genet Res (Camb)
; 102: e7, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867862
2.
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
Genet Res (Camb)
; 101: e11, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813398
3.
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Prenat Diagn
; 39(12): 1064-1069, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393021
4.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
5.
Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing.
BMC Med Genomics
; 10(1): 17, 2017 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315634
6.
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA.
Eur J Hum Genet
; 24(8): 1167-74, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26757983
7.
Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling.
BMC Med Genomics
; 8: 5, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25889064