Detalhe da pesquisa
1.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329581
2.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
3.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131308
4.
A cross-professional competency framework for communicating genomic results.
J Genet Couns
; 33(1): 222-231, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965839
5.
Implementation of Body Worn Camera: Practical and Ethical Considerations.
Issues Ment Health Nurs
; 45(4): 379-390, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412433
6.
Very large release of mostly volcanic carbon during the Palaeocene-Eocene Thermal Maximum.
Nature
; 548(7669): 573-577, 2017 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28858305
7.
The enigma of Oligocene climate and global surface temperature evolution.
Proc Natl Acad Sci U S A
; 117(41): 25302-25309, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989142
8.
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Am J Med Genet A
; 188(3): 959-964, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904380
9.
Rapid ocean acidification and protracted Earth system recovery followed the end-Cretaceous Chicxulub impact.
Proc Natl Acad Sci U S A
; 116(45): 22500-22504, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636204
10.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
11.
Strategies in times of crisis-insights into the benthic foraminiferal record of the Palaeocene-Eocene Thermal Maximum.
Philos Trans A Math Phys Eng Sci
; 376(2130)2018 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177568
12.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
13.
Advances in Genetic Testing for Hereditary Cancer Syndromes.
Recent Results Cancer Res
; 205: 1-15, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075345
14.
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
J Med Genet
; 57(12): 859-862, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303606
15.
Surviving rapid climate change in the deep sea during the Paleogene hyperthermals.
Proc Natl Acad Sci U S A
; 110(23): 9273-6, 2013 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23690593
16.
End-Cretaceous marine mass extinction not caused by productivity collapse.
Proc Natl Acad Sci U S A
; 109(3): 728-32, 2012 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22207626
17.
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
BMC Med Genet
; 15: 70, 2014 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24956927
18.
Oxygen rise in the tropical upper ocean during the Paleocene-Eocene Thermal Maximum.
Science
; 383(6684): 727-731, 2024 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359106
19.
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Genet Med
; 15(12): 948-57, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23680767
20.
Exploring the use of body-worn cameras in acute mental health wards: A qualitative interview study with mental health patients and staff.
Int J Nurs Stud
; 140: 104456, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821953