Detalhe da pesquisa
1.
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Hum Genet
; 142(3): 321-330, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36629921
2.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Hum Genet
; 142(2): 201-216, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376761
3.
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Genet Med
; 24(5): 1027-1036, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35219592
4.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med
; 24(2): 430-438, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906486
5.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
6.
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Genet Med
; 22(6): 1015-1024, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037394
7.
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Am J Med Genet A
; 182(9): 2145-2151, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652832
8.
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Circulation
; 138(12): 1195-1205, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959160
9.
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Genet Med
; 21(4): 1001-1007, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30232381
10.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
11.
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.
JAMA Netw Open
; 4(5): e2110446, 2021 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037732
12.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Front Genet
; 11: 957, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110418
13.
Return of genetic and genomic research findings: experience of a pediatric biorepository.
BMC Med Genomics
; 12(1): 173, 2019 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775751
14.
A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic.
Can J Cardiol
; 38(9): 1454-1457, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35469975
15.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
NPJ Genom Med
; 12016 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28567303