Detalhe da pesquisa
1.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37870986
2.
Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project.
Genet Med
; 22(10): 1710-1717, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32647274
3.
Airmen and health-care providers' attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project.
Genet Med
; 22(12): 2003-2010, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32807975
4.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
J Inherit Metab Dis
; 43(6): 1298-1309, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32749716
5.
Automated typing of red blood cell and platelet antigens from whole exome sequences.
Transfusion
; 59(10): 3253-3263, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31392742
6.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100316, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36507974
7.
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100017, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36799919
8.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab
; 123(3): 337-346, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29397290
9.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1295, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-30030676
10.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1027-1035, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29926259
11.
Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease.
Am J Forensic Med Pathol
; 44(1): e4-e7, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36103413
12.
Mandibular canal branching assessed with cone beam computed tomography.
Radiol Med
; 123(8): 601-608, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29663186
13.
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.
Genet Med
; 17(12): 1002-6, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25741863
14.
Assessing Clinical Utility of Pharmacogenetic Testing in the Military Health System.
Mil Med
; 189(1-2): e198-e204, 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37436924
15.
Surveying the Genomic Landscape Supporting the Development of Precision Military Aerospace Medicine.
Aerosp Med Hum Perform
; 93(2): 89-93, 2022 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35105425
16.
Evaluation of the Maxillary Sinus of Patients with Maxillary Posterior Implants: A CBCT Cross-Sectional Study.
Diagnostics (Basel)
; 12(12)2022 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36553176
17.
Precision Medicine-A Demand Signal for Genomics Education.
Mil Med
; 187(Suppl 1): 40-46, 2021 12 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34967402
18.
Response to Nogales-Gadea et al.
Genet Med
; 17(8): 680-1, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26240974
19.
Return of secondary findings in genomic sequencing: Military implications.
Mol Genet Genomic Med
; 7(2): e00483, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30415494
20.
Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.
Mol Genet Genomic Med
; 5(6): 617-620, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29178650