Detalles de la búsqueda
1.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34216551
2.
Words matter: The language of difference in human genetics.
Genet Med
; 25(3): 100343, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36524987
3.
Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 31(6): 1238-1248, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36106433
4.
Taking an antiracist posture in scientific publications in human genetics and genomics.
Genet Med
; 23(6): 1004-1007, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33649579
5.
Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision.
J Genet Couns
; 30(5): 1354-1357, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34309119
6.
Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
Gynecol Oncol
; 156(3): 517-522, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31883735
7.
Assessing transgender and gender non-conforming pedigree nomenclature in current genetic counselors' practice: The case for geometric inclusivity.
J Genet Couns
; 29(6): 1114-1125, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32232917
8.
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.
Genet Med
; 21(6): 1457-1461, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30327540
9.
Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
J Genet Couns
; 28(6): 1208-1213, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31317629
10.
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Hum Genet
; 137(10): 795-806, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-30267214
11.
Both sides now: Changing a long-standing pedigree tradition of men on the left and women on the right.
J Genet Couns
; 32(3): 530-531, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36519192
12.
National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.
J Genet Couns
; 27(1): 9-15, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29075947
13.
Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.
Cancer
; 122(3): 393-401, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26480326
14.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Am J Hum Genet
; 93(4): 631-40, 2013 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24055113
15.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Genet Med
; 18(10): 974-81, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-26845104
16.
Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool.
J Genet Couns
; 25(6): 1146-1156, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27422780
17.
Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.
J Genet Couns
; 25(4): 625-34, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-26739839
18.
Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.
J Genet Couns
; 25(3): 515-9, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26637299
19.
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
Genet Med
; 17(1): 70-87, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25394175
20.
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.
Genet Med
; 15(12): 1004-7, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23619277