Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633279
3.
Non-White Race and Concomitant Orthopedic Conditions Are Risk Factors for Failure to Achieve Clinically Relevant Improvement After Total Knee Arthroplasty.
J Arthroplasty
; 39(4): 927-934, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852453
4.
Social vulnerability adversely affects emergency-department utilization but not patient-reported outcomes after total joint arthroplasty.
Arch Orthop Trauma Surg
; 144(4): 1803-1811, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38206446
5.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
6.
The Efficacy of Telemedicine Versus In-Person Education for High-Risk Patients Undergoing Primary Total Joint Arthroplasty.
J Arthroplasty
; 38(7): 1230-1237.e1, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690187
7.
Acetabular Total Hip Arthroplasty Revision: A Summary of Operative Factors, Outcomes, and Comparison of Approaches.
J Arthroplasty
; 38(8): 1571-1577, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773658
8.
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
J Allergy Clin Immunol
; 149(1): 379-387, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004258
9.
seqr: A web-based analysis and collaboration tool for rare disease genomics.
Hum Mutat
; 43(6): 698-707, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266241
10.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148959
11.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581083
12.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet
; 14(12): e1007752, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586411
13.
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
Hum Mutat
; 41(9): 1488-1498, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442321
14.
Multimodal Positron Emission Tomography Imaging to Quantify Uptake of 89Zr-Labeled Liposomes in the Atherosclerotic Vessel Wall.
Bioconjug Chem
; 31(2): 360-368, 2020 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31095372
15.
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Genet Med
; 21(4): 798-812, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655598
16.
Immune cell screening of a nanoparticle library improves atherosclerosis therapy.
Proc Natl Acad Sci U S A
; 113(44): E6731-E6740, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27791119
17.
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Hum Mutat
; 39(12): 1827-1834, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240502
18.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(11): 880-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25611685
19.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(4): 319, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835197
20.
Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy.
J Genet Couns
; 24(5): 797-809, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25566741