Detalhe da pesquisa
1.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
2.
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
3.
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
4.
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Br J Cancer
; 124(2): 437-446, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33012783
5.
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.
Genet Med
; 23(6): 1086-1094, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654192
6.
Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome.
Prenat Diagn
; 41(7): 798-816, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33687072
7.
"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.
Pediatr Blood Cancer
; 66(1): e27445, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207072
8.
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.
J Genet Couns
; 28(5): 982-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313416
9.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
10.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
CMAJ
; 190(5): E126-E136, 2018 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29431110
11.
Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.
J Genet Couns
; 27(5): 1130-1147, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29516345
12.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
13.
Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.
Am J Med Genet A
; 170(12): 3083-3089, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530094
14.
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Am J Med Genet A
; 170(10): 2731-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374371
15.
Experience with genetic counseling: the adolescent perspective.
J Genet Couns
; 25(3): 583-95, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26573304
16.
Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling.
J Genet Couns
; 25(5): 912-22, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639756
17.
The Relationship Between Burnout and Occupational Stress in Genetic Counselors.
J Genet Couns
; 25(4): 731-41, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27228983
18.
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Hum Genet
; 133(3): 321-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154661
19.
Risk estimates for complex disorders: comparing personal genome testing and family history.
Genet Med
; 16(3): 231-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24009002
20.
Molecular findings in Beckwith-Wiedemann syndrome.
Am J Med Genet C Semin Med Genet
; 163C(2): 131-40, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23592339