Detalhe da pesquisa
1.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Hum Genomics
; 17(1): 39, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138343
2.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
3.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
JAMA
; 324(7): 663-673, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706371
4.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem
; 63(2): 503-512, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974384
5.
Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer.
Eur Urol Oncol
; 7(2): 282-291, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673768
6.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Int J Neonatal Screen
; 10(1)2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535124
7.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355605
8.
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer.
Eur J Surg Oncol
; 49(7): 1283-1290, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740555
9.
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer.
Cancers (Basel)
; 14(18)2022 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36139577
10.
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Genome Med
; 14(1): 66, 2022 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710456
11.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
12.
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
J Mol Diagn
; 11(6): 514-23, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19779133
13.
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
BMJ Case Rep
; 20092009.
Artigo
em Inglês
| MEDLINE | ID: mdl-21686774