Detalhe da pesquisa
1.
Genotype first: Clinical genomics research through a reverse phenotyping approach.
Am J Hum Genet
; 110(1): 3-12, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608682
2.
A health systems assessment of genetic counseling in cardiovascular care in a large health system: Adherence to genetics recommendations in the Military Health System.
J Genet Couns
; 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37766662
3.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
4.
Genetic testing in Non-Hispanic Black women with breast cancer treated within an equal-access healthcare system.
Genet Med
; 24(1): 232-237, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906450
5.
Are genetic counselors prepared to counsel active-duty service members? A survey of genetic counselors' self-efficacy, counseling techniques, and knowledge of military policy.
J Genet Couns
; 31(6): 1363-1372, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35950707
6.
Philadelphia Prostate Cancer Genetic Consensus Conference 2019 and implications for military medicine.
Can J Urol
; 28(3): 10659-10667, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34129457
7.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
8.
Patient-centered care and genomic medicine: A qualitative provider study in the military health system.
J Genet Couns
; 28(5): 940-949, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240828
9.
Computational in silico genetic variant prediction tools in cardiovascular disease.
Ann Noninvasive Electrocardiol
; 28(5): e13079, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607111
10.
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Hum Mutat
; 38(4): 409-425, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28055140
11.
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Genet Med
; 19(8): 955-958, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125078
12.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Hum Genet
; 135(12): 1399-1409, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681385
13.
Management of Incidental Findings in the Era of Next-generation Sequencing.
Curr Genomics
; 16(3): 159-74, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26069456
14.
Assessing Clinical Utility of Pharmacogenetic Testing in the Military Health System.
Mil Med
; 189(1-2): e198-e204, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436924
15.
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Biochim Biophys Acta Mol Cell Res
; 1871(1): 119572, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659504
16.
Prevalence of Heart Failure Stages in a Universal Health Care System: The Military Health System Experience.
Am J Med
; 136(11): 1079-1086.e1, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481019
17.
ATP1A1 -linked diseases require a malfunctioning protein product from one allele.
bioRxiv
; 2023 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090550
18.
Uncommon Protein-Coding Variants Associated With Suicide Attempt in a Diverse Sample of U.S. Army Soldiers.
Biol Psychiatry
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141912
19.
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
Genome Res
; 19(9): 1665-74, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19602640
20.
Influence of germline test results on surgical decision making in women with invasive breast cancer.
Cancer Genet
; 266-267: 81-85, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868102