Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
3.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
4.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929737
5.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
6.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
7.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
8.
Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Hum Mutat
; 40(10): 1684-1689, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268616
9.
Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study.
Genet Med
; 19(5): 537-545, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27657683
10.
Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study.
J Genet Couns
; 26(6): 1270-1279, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28512697
11.
Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing.
Ann Intern Med
; 164(8): 513-22, 2016 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928821
12.
Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing.
Genet Med
; 18(1): 65-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25812042
13.
Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees.
Genet Med
; 18(9): 924-32, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820063
14.
Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking.
Nicotine Tob Res
; 18(12): 2273-2277, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613923
15.
Consumer Perspectives on Access to Direct-to-Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience.
Milbank Q
; 95(2): 291-318, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589610
16.
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Front Genet
; 12: 698595, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326862
17.
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Nat Commun
; 9(1): 4885, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459321
18.
Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.
Public Health Genomics
; 20(1): 36-45, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28068660
19.
Diet and exercise changes following direct-to-consumer personal genomic testing.
BMC Med Genomics
; 10(1): 24, 2017 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28464943
20.
Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study.
J Community Genet
; 8(4): 293-301, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28868574