Detalhe da pesquisa
1.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
2.
Uncertainty in healthcare and health decision making: Five methodological and conceptual research recommendations from an interdisciplinary team.
J Behav Med
; 46(4): 541-555, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574173
3.
Measuring quality and value in genetic counseling: The current landscape and future directions.
J Genet Couns
; 32(2): 315-324, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385723
4.
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Am J Med Genet C Semin Med Genet
; 187(1): 83-94, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576083
5.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
6.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
7.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
8.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
9.
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Genet Med
; 21(3): 727-735, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976988
10.
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Hum Mutat
; 39(11): 1660-1667, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311381
11.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Hum Mutat
; 39(11): 1668-1676, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311371
12.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915380
13.
The utilization of counseling skills by the laboratory genetic counselor.
J Genet Couns
; 24(1): 6-17, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138081
14.
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.
Genet Med
; 16(8): 588-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24525918
15.
Looking back and moving forward: an historical perspective from laboratory genetic counselors.
J Genet Couns
; 23(3): 363-70, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217982
16.
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
J Mol Diagn
; 26(3): 159-167, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103592
17.
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.
Hum Mutat
; 34(6): 915-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463607
18.
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.
Am J Psychiatry
; 180(1): 65-72, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36475376
19.
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Eur J Hum Genet
; 31(10): 1165-1174, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308598
20.
The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.
J Genet Couns
; 21(5): 631-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22610653