Detalhe da pesquisa
1.
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
J Med Genet
; 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534204
2.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211152
3.
Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.
J Genet Couns
; 30(6): 1591-1597, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33881185
4.
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.
Genet Med
; 21(6): 1457-1461, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327540
5.
Cornelia de Lange syndrome in diverse populations.
Am J Med Genet A
; 179(2): 150-158, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614194
6.
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Hum Mutat
; 39(2): 255-265, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29105242
7.
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Hum Genet
; 137(10): 795-806, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267214
8.
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Am J Kidney Dis
; 72(2): 296-301, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246420
9.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
10.
Is "incidental finding" the best term?: a study of patients' preferences.
Genet Med
; 19(2): 176-181, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490114
11.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 19(8): 962, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777376
12.
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Am J Med Genet A
; 173(2): 471-478, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868354
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055113
15.
Improving performance of multigene panels for genomic analysis of cancer predisposition.
Genet Med
; 18(10): 974-81, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845104
16.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med
; 18(11): 1143-1150, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26986877
17.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637299
19.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Hum Mutat
; 36(11): 1070-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172944
20.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann Neurol
; 75(4): 542-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700542