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Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
Published in:
Breast Cancer Research & Treatment, 2022, v. 196, n. 2, p. 355, doi. 10.1007/s10549-022-06723-z
By:
- Laitman, Yael;
- Nielsen, Sarah M.;
- Bernstein-Molho, Rinat;
- Heald, Brandie;
- Hatchell, Kathryn E.;
- Esplin, Edward D.;
- Friedman, Eitan
Publication type:
Article
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
Published in:
JAMA Network Open, 2022, v. 5, n. 10, p. e2238167, doi. 10.1001/jamanetworkopen.2022.38167
By:
- Moretz, Chad;
- Byfield, Stacey DaCosta;
- Hatchell, Kathryn E.;
- Dalton, Joline;
- Onglao, Peter Nicholas;
- Hang, Lillian;
- Hansen, Pamela;
- Radford, Cristi;
- Nielsen, Sarah M.;
- Heald, Brandie;
- Munro, Sandra B.;
- Nussbaum, Robert L.;
- Esplin, Edward D.
Publication type:
Article
Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.
Published in:
Human Genetics, 2019, v. 138, n. 10, p. 1155, doi. 10.1007/s00439-019-02049-x
By:
- Hatchell, Kathryn E.;
- Lu, Qiongshi;
- Hebbring, Scott J.;
- Michos, Erin D.;
- Wood, Alexis C.;
- Engelman, Corinne D.
Publication type:
Article
Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers.
Published in:
Cancers, 2022, v. 14, n. 23, p. 5875, doi. 10.3390/cancers14235875
By:
- Forkosh, Esther;
- Bergel, Michael;
- Hatchell, Kathryn E.;
- Nielsen, Sarah M.;
- Heald, Brandie;
- Benson, Ariel A.;
- Friedman, Eitan;
- Esplin, Edward D.;
- Katz, Lior H.
Publication type:
Article
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
Published in:
JAMA Network Open, 2023, v. 6, n. 10, p. e2339571, doi. 10.1001/jamanetworkopen.2023.39571
By:
- Chen, Elaine;
- Facio, Flavia M.;
- Aradhya, Kerry W.;
- Rojahn, Susan;
- Hatchell, Kathryn E.;
- Aguilar, Sienna;
- Ouyang, Karen;
- Saitta, Sulagna;
- Hanson-Kwan, Andrea K.;
- Capurro, Nicole Nakousi;
- Takamine, Eriko;
- Jamuar, Saumya Shekhar;
- McKnight, Dianalee;
- Johnson, Britt;
- Aradhya, Swaroop
Publication type:
Article
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications.
Published in:
Epilepsia Open, 2024, v. 9, n. 1, p. 439, doi. 10.1002/epi4.12878
By:
- Swartwood, Shanna M.;
- Morales, Ana;
- Hatchell, Kathryn E.;
- Moretz, Chad;
- McKnight, Dianalee;
- Demmer, Laurie;
- Chagnon, Sarah;
- Aradhya, Swaroop;
- Esplin, Edward D.;
- Bonkowsky, Joshua L.
Publication type:
Article
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Published in:
JAMA Neurology, 2022, v. 79, n. 12, p. 1267, doi. 10.1001/jamaneurol.2022.3651
By:
- McKnight, Dianalee;
- Morales, Ana;
- Hatchell, Kathryn E.;
- Bristow, Sara L.;
- Bonkowsky, Joshua L.;
- Perry, Michael Scott;
- Berg, Anne T.;
- Borlot, Felippe;
- Esplin, Edward D.;
- Moretz, Chad;
- Angione, Katie;
- Ríos-Pohl, Loreto;
- Nussbaum, Robert L.;
- Aradhya, Swaroop;
- Haldeman-Englert, Chad R.;
- Levy, Rebecca J.;
- Parachuri, Venu G.;
- Lay-Son, Guillermo;
- de Montellano, David J. Dávila-Ortiz;
- Ramirez-Garcia, Miguel Angel
Publication type:
Article
Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant.
Published in:
Familial Cancer, 2022, v. 21, n. 3, p. 305, doi. 10.1007/s10689-021-00278-6
By:
- Laitman, Yael;
- Nielsen, Sarah M.;
- Hatchell, Kathryn E.;
- Truty, Rebecca;
- Bernstein-Molho, Rinat;
- Esplin, Edward D.;
- Friedman, Eitan
Publication type:
Article
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867226
By:
- Schmidlen, Tara J.;
- Bristow, Sara L.;
- Hatchell, Kathryn E.;
- Esplin, Edward D.;
- Nussbaum, Robert L.;
- Haverfield, Eden V.
Publication type:
Article
Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2018, v. 103, n. 4, p. 1380, doi. 10.1210/jc.2017-01802
By:
- Jaeyoung Hong;
- Hatchell, Kathryn E.;
- Bradfield, Jonathan P.;
- Bjonnes, Andrew;
- Chesi, Alessandra;
- Chao-Qiang Lai;
- Langefeld, Carl D.;
- Lingyi Lu;
- Yingchang Lu;
- Lutsey, Pamela L.;
- Musani, Solomon K.;
- Nalls, Mike A.;
- Robinson-Cohen, Cassianne;
- Roizen, Jeffery D.;
- Saxena, Richa;
- Tucker, Katherine L.;
- Ziegler, Julie T.;
- Arking, Dan E.;
- Bis, Joshua C.;
- Boerwinkle, Eric
Publication type:
Article
Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.
Published in:
2018
By:
- Hong, Jaeyoung;
- Hatchell, Kathryn E;
- Bradfield, Jonathan P;
- Andrew, Bjonnes;
- Alessandra, Chesi;
- Chao-Qiang, Lai;
- Langefeld, Carl D;
- Lu, Lingyi;
- Lu, Yingchang;
- Lutsey, Pamela L;
- Musani, Solomon K;
- Nalls, Mike A;
- Robinson-Cohen, Cassianne;
- Roizen, Jeffery D;
- Saxena, Richa;
- Tucker, Katherine L;
- Ziegler, Julie T;
- Arking, Dan E;
- Bis, Joshua C;
- Boerwinkle, Eric
Publication type:
journal article
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
2021
By:
- Haverfield, Eden V.;
- Esplin, Edward D.;
- Aguilar, Sienna J.;
- Hatchell, Kathryn E.;
- Ormond, Kelly E.;
- Hanson-Kahn, Andrea;
- Atwal, Paldeep S.;
- Macklin-Mantia, Sarah;
- Hines, Stephanie;
- Sak, Caron W.-M.;
- Tucker, Steven;
- Bleyl, Steven B.;
- Hulick, Peter J.;
- Gordon, Ora K.;
- Velsher, Lea;
- Gu, Jessica Y. J.;
- Weissman, Scott M.;
- Kruisselbrink, Teresa;
- Abel, Christopher;
- Kettles, Michele
Publication type:
Journal Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- Haverfield, Eden V.;
- Esplin, Edward D.;
- Aguilar, Sienna J.;
- Hatchell, Kathryn E.;
- Ormond, Kelly E.;
- Hanson-Kahn, Andrea;
- Atwal, Paldeep S.;
- Macklin-Mantia, Sarah;
- Hines, Stephanie;
- Sak, Caron W.-M.;
- Tucker, Steven;
- Bleyl, Steven B.;
- Hulick, Peter J.;
- Gordon, Ora K.;
- Velsher, Lea;
- Gu, Jessica Y. J.;
- Weissman, Scott M.;
- Kruisselbrink, Teresa;
- Abel, Christopher;
- Kettles, Michele
Publication type:
Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- Haverfield, Eden V.;
- Esplin, Edward D.;
- Aguilar, Sienna J.;
- Hatchell, Kathryn E.;
- Ormond, Kelly E.;
- Hanson-Kahn, Andrea;
- Atwal, Paldeep S.;
- Macklin-Mantia, Sarah;
- Hines, Stephanie;
- Sak, Caron W.-M.;
- Tucker, Steven;
- Bleyl, Steven B.;
- Hulick, Peter J.;
- Gordon, Ora K.;
- Velsher, Lea;
- Gu, Jessica Y. J.;
- Weissman, Scott M.;
- Kruisselbrink, Teresa;
- Abel, Christopher;
- Kettles, Michele
Publication type:
Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
2021
By:
- Haverfield, Eden V.;
- Esplin, Edward D.;
- Aguilar, Sienna J.;
- Hatchell, Kathryn E.;
- Ormond, Kelly E.;
- Hanson-Kahn, Andrea;
- Atwal, Paldeep S.;
- Macklin-Mantia, Sarah;
- Hines, Stephanie;
- Sak, Caron W.-M.;
- Tucker, Steven;
- Bleyl, Steven B.;
- Hulick, Peter J.;
- Gordon, Ora K.;
- Velsher, Lea;
- Gu, Jessica Y. J.;
- Weissman, Scott M.;
- Kruisselbrink, Teresa;
- Abel, Christopher;
- Kettles, Michele
Publication type:
journal article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Published in:
BMC Medicine, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12916-021-01999-2
By:
- Haverfield, Eden V.;
- Esplin, Edward D.;
- Aguilar, Sienna J.;
- Hatchell, Kathryn E.;
- Ormond, Kelly E.;
- Hanson-Kahn, Andrea;
- Atwal, Paldeep S.;
- Macklin-Mantia, Sarah;
- Hines, Stephanie;
- Sak, Caron W.-M.;
- Tucker, Steven;
- Bleyl, Steven B.;
- Hulick, Peter J.;
- Gordon, Ora K.;
- Velsher, Lea;
- Gu, Jessica Y. J.;
- Weissman, Scott M.;
- Kruisselbrink, Teresa;
- Abel, Christopher;
- Kettles, Michele
Publication type:
Article
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Published in:
Cancer (0008543X), 2022, v. 128, n. 4, p. 675, doi. 10.1002/cncr.33997
By:
- Lu, Eric;
- Hatchell, Kathryn E.;
- Nielsen, Sarah M.;
- Esplin, Edward D.;
- Ouyang, Karen;
- Nykamp, Keith;
- Zavoshi, Shirin;
- Li, Shantao;
- Zhang, Liying;
- Wilde, Blake R.;
- Christofk, Heather R.;
- Boutros, Paul C.;
- Shuch, Brian
Publication type:
Article
Multi‐ethnic analysis shows genetic risk and environmental predictors interact to influence 25(OH)D concentration and optimal vitamin D intake.
Published in:
Genetic Epidemiology, 2020, v. 44, n. 2, p. 208, doi. 10.1002/gepi.22272
By:
- Hatchell, Kathryn E.;
- Lu, Qiongshi;
- Mares, Julie A.;
- Michos, Erin D.;
- Wood, Alexis C.;
- Engelman, Corinne D.
Publication type:
Article
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
Published in:
Journal of the Peripheral Nervous System, 2024, v. 29, n. 3, p. 363, doi. 10.1111/jns.12651
By:
- Roggenbuck, Jennifer;
- Morales, Ana;
- Ellis, Colin A.;
- Dratch, Laynie;
- Stetler, Molly;
- Tan, Christopher A.;
- Bucknor, Brianna;
- Hatchell, Kathryn E.;
- Aradhya, Swaroop;
- Esplin, Edward D.;
- Ting, Yi‐Lee;
- Scherer, Steven S.
Publication type:
Article

Found: 19