Detalhe da pesquisa
1.
Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.
Genet Med
; : 101146, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676451
2.
Compassion and equity-focused clinical genomics training for health professional learners.
J Genet Couns
; 2024 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38363012
3.
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Am J Hum Genet
; 107(5): 953-962, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157008
4.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Am J Hum Genet
; 107(5): 942-952, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157007
5.
Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.
Am J Hum Genet
; 104(2): 193-196, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735659
6.
Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States.
Hum Mol Genet
; 27(R2): R250-R258, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750248
7.
Interdisciplinary development of a standardized introduction to gene drives for lay audiences.
BMC Med Res Methodol
; 20(1): 273, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33153449
8.
Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.
Hum Mol Genet
; 25(15): 3383-3394, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27329760
9.
PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS.
Bioinformatics
; 33(6): 871-878, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065902
10.
Genome-wide association study of HIV-associated neurocognitive disorder (HAND): A CHARTER group study.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 413-426, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28447399
11.
The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.
Neuroimage
; 124(Pt B): 1149-1154, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937488
12.
Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE).
Genet Med
; 22(3): 665-666, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31740737
13.
A genome sequencing program for novel undiagnosed diseases.
Genet Med
; 17(12): 995-1001, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790160
14.
De novo KCNB1 mutations in epileptic encephalopathy.
Ann Neurol
; 76(4): 529-540, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25164438
15.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann Neurol
; 75(4): 542-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700542
16.
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation.
J Med Genet
; 51(2): 83-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24343916
17.
Long-term influence of normal variation in neonatal characteristics on human brain development.
Proc Natl Acad Sci U S A
; 109(49): 20089-94, 2012 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169628
18.
Multimodal imaging of the self-regulating developing brain.
Proc Natl Acad Sci U S A
; 109(48): 19620-5, 2012 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23150548
19.
Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.
Proc Natl Acad Sci U S A
; 109(10): 3985-90, 2012 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22343285
20.
Effect of direct-to-consumer genomewide profiling to assess disease risk.
N Engl J Med
; 364(6): 524-34, 2011 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21226570