Detalhe da pesquisa
1.
Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.
BJOG;
131(6): 848-857, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37752678
2.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet;
60(7): 669-678, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36572524
3.
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Am J Hum Genet;
102(5): 956-972, 2018 05 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29727692
4.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Am J Hum Genet;
103(6): 984-994, 2018 12 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30471717
5.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
J Med Genet;
57(5): 322-330, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31879361
6.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet;
393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30712880
7.
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Clin Chem;
66(1): 207-216, 2020 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31551312
8.
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clin Genet;
97(3): 509-515, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31650533
9.
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
Prenat Diagn;
40(7): 785-791, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32227640
10.
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
J Am Soc Nephrol;
30(8): 1375-1384, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31263063
11.
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
N Engl J Med;
375(17): 1628-1637, 2016 10 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27783906
12.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Ophthalmology;
126(6): 888-907, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30653986
13.
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
Prenat Diagn;
39(5): 379-387, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30767256
14.
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
J Med Genet;
55(11): 721-728, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30049826
15.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney Int;
93(4): 961-967, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29398133
16.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax;
73(2): 157-166, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28790179
17.
Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice.
Prenat Diagn;
38(1): 44-51, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29266293
18.
Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine-Titanium Complex.
Angew Chem Int Ed Engl;
57(21): 6314-6318, 2018 05 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29633444
19.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
J Clin Immunol;
37(1): 42-50, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27807805
20.
Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatr Nephrol;
32(6): 987-996, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28188436