Pesquisa | BVS Integralidade em Saúde

1.

Familial communication and cascade testing following elective genomic testing.

Adelson, Sophia M; Blout Zawatsky, Carrie L; Hickingbotham, Madison R; Bell, Megan E; Platt, Dylan M; Leonhard, Jennifer R; Zoltick, Emilie S; Hajek, Catherine A; Green, Robert C; Christensen, Kurt D.

J Genet Couns ; 2024 May 16.

Artigo em Inglês | MEDLINE | ID: mdl-38757439

2.

Improved provider preparedness through an 8-part genetics and genomic education program.

Hajek, Catherine; Hutchinson, Allison M; Galbraith, Lauren N; Green, Robert C; Murray, Michael F; Petry, Natasha; Preys, Charlene L; Zawatsky, Carrie L B; Zoltick, Emilie S; Christensen, Kurt D.

Genet Med ; 24(1): 214-224, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34906462

3.

Cytochrome P450 2D6 Genotyping for Post-Operative Opioids.

Thomsen, Jacob; Wilke, Russell A; Jahraus, Matthew; Baye, Jordan; Hajek, Catherine; Larson, Eric A; Anderson, Matthew C.

S D Med ; 75(11): 500-502, 2022 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-36893027

4.

Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.

Galbraith, Lauren N; Preys, Charlene L; Rehm, Heidi L; Scheuner, Maren T; Hajek, Catherine; Green, Robert C; Christensen, Kurt D.

Genet Med ; 23(10): 1977-1983, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34113000

5.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley J F; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan.

Nucleic Acids Res ; 47(D1): D1018-D1027, 2019 01 08.

Artigo em Inglês | MEDLINE | ID: mdl-30476213

6.

Genomic Medicine in Primary Care.

Hajek, Catherine.

S D Med ; Spec No: 62-65, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-28817866

7.

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze, Alexandre; Cirulli, Elizabeth T; Hajek, Catherine; Schnell Blitstein, Jamie M; Grzymski, Joseph J.

JAMA Oncol ; 10(2): 236-239, 2024 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-38153744

8.

Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting.

Massmann, Amanda; Christensen, Kurt D; Van Heukelom, Joel; Schultz, April; Shaukat, Muhammad Hamza Saad; Hajek, Catherine; Weaver, Max; Green, Robert C; Wu, Ann Chen; Hickingbotham, Madison R; Zoltick, Emilie S; Stys, Adam; Stys, Tomasz P.

Eur J Hum Genet ; 2024 Feb 29.

Artigo em Inglês | MEDLINE | ID: mdl-38424298

9.

SLCO1B1 gene-based clinical decision support reduces statin-associated muscle symptoms risk with simvastatin.

Massmann, Amanda; Van Heukelom, Joel; Green, Robert C; Hajek, Catherine; Hickingbotham, Madison R; Larson, Eric A; Lu, Christine Y; Wu, Ann Chen; Zoltick, Emilie S; Christensen, Kurt D; Schultz, April.

Pharmacogenomics ; 24(7): 399-409, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-37232094

10.

Attitudes about pharmacogenomic testing vary by healthcare specialty.

Preys, Charlene L; Blout Zawatsky, Carrie L; Massmann, Amanda; Heukelom, Joel Van; Green, Robert C; Hajek, Catherine; Hickingbotham, Madison R; Zoltick, Emilie S; Schultz, April; Christensen, Kurt D.

Pharmacogenomics ; 24(10): 539-549, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37458095

11.

Pharmacogenetic Review: Germline Genetic Variants Possessing Increased Cancer Risk With Clinically Actionable Therapeutic Relationships.

Saugstad, Austin A; Petry, Natasha; Hajek, Catherine.

Front Genet ; 13: 857120, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35685436

12.

SLCO1B1*5 Allele Is Associated With Atorvastatin Discontinuation and Adverse Muscle Symptoms in the Context of Routine Care.

Voora, Deepak; Baye, Jordan; McDermaid, Adam; Narayana Gowda, Smitha; Wilke, Russell A; Nicole Myrmoe, Anna; Hajek, Catherine; Larson, Eric A.

Clin Pharmacol Ther ; 111(5): 1075-1083, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-35034348

13.

Workforce Considerations When Building a Precision Medicine Program.

Blout Zawatsky, Carrie L; Leonhard, Jennifer R; Bell, Megan; Moore, Michelle M; Petry, Natasha J; Platt, Dylan M; Green, Robert C; Hajek, Catherine; Christensen, Kurt D.

J Pers Med ; 12(11)2022 Nov 19.

Artigo em Inglês | MEDLINE | ID: mdl-36422106

14.

Association of polygenic risk scores with incident atherosclerotic cardiovascular disease events among individuals with coronary artery calcium score of zero: The multi-ethnic study of atherosclerosis.

Al Rifai, Mahmoud; Yao, Jie; Guo, Xiuqing; Post, Wendy S; Malik, Shaista; Blumenthal, Roger S; Ballantyne, Christie M; Budoff, Matthew; Taylor, Kent D; Lin, Henry J; Rich, Stephen S; Hajek, Catherine; Greenland, Philip; Rotter, Jerome I; Virani, Salim S.

Prog Cardiovasc Dis ; 74: 19-27, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35952728

15.

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.

Cherukuri, Praveen F; Soe, Melissa M; Condon, David E; Bartaria, Shubhi; Meis, Kaitlynn; Gu, Shaopeng; Frost, Frederick G; Fricke, Lindsay M; Lubieniecki, Krzysztof P; Lubieniecka, Joanna M; Pyatt, Robert E; Hajek, Catherine; Boerkoel, Cornelius F; Carmichael, Lynn.

BMC Med Genomics ; 15(1): 56, 2022 03 14.

Artigo em Inglês | MEDLINE | ID: mdl-35287663

16.

CYP2C19 genotype-directed P₂Y₁₂ inhibitor antiplatelet therapy normalizes risk for major adverse cardiovascular events after percutaneous coronary intervention.

Stys, Tomasz P; Gedela, Maheedhar; Gowda, Smitha N; Bares, Valerie; Fanta, Lauren; Petrasko, Marian; Hajek, Catherine; Larson, Eric; Stys, Adam T.

Indian Heart J ; 73(3): 281-288, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-34154743

17.

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.

Schmidt, Lindsey; Wain, Karen E; Hajek, Catherine; Estrada-Veras, Juvianee I; Guillen Sacoto, Maria J; Wentzensen, Ingrid M; Malhotra, Alka; Clause, Amanda; Perry, Denise; Moreno-De-Luca, Andres; Bell, Megan.

Mol Syndromol ; 12(1): 33-40, 2021 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-33776625

18.

Precision Population Medicine in Primary Care: The Sanford Chip Experience.

Christensen, Kurt D; Bell, Megan; Zawatsky, Carrie L B; Galbraith, Lauren N; Green, Robert C; Hutchinson, Allison M; Jamal, Leila; LeBlanc, Jessica L; Leonhard, Jennifer R; Moore, Michelle; Mullineaux, Lisa; Petry, Natasha; Platt, Dylan M; Shaaban, Sherin; Schultz, April; Tucker, Bethany D; Van Heukelom, Joel; Wheeler, Elizabeth; Zoltick, Emilie S; Hajek, Catherine.

Front Genet ; 12: 626845, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33777099

19.

Implementation of wide-scale pharmacogenetic testing in primary care.

Baye, Jordan; Aifaoui, Aissa; Wilke, Russell A; Lupu, Roxana A; Savageau, John; Gapp, Britni; Massmann, Amanda; Hahn, Deidre; Hajek, Catherine; Schultz, April.

Pharmacogenomics ; 20(12): 903-913, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31453774

20.

Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Hajek, Catherine A; Ji, Jianling; Saitta, Sulagna C.

Mol Syndromol ; 9(3): 122-133, 2018 May.

Artigo em Inglês | MEDLINE | ID: mdl-29928177

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