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    Academic Journals

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• Select Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

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  Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

  Authors:Tia L. Kauffman, Benjamin S. Wilfond, Gail P. Jarvik, Michael C. Leo, Frances L. Lynch, Jacob A. Reiss, et al.From:Contemporary Clinical Trials (Vol. 53) Peer-Reviewed

  Feb. 2017468 words Report

   Abstract Only
• Select Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews

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  Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews

  Authors:Jennifer L. Schneider, Katrina A. B. Goddard, Kristin R. Muessig, James V. Davis, Alan F. Rope, Jessica E. Hunter, et al.From:Hereditary Cancer in Clinical Practice (Vol. 16, Issue 1) Peer-Reviewed

  May 10, 20185,061 words Report 1510LBackground Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality....
• Select Genetic screening for iron overload: no evidence of discrimination at 1 year: few patients had insurance or employment problems after being screened for hemochromatosis and iron overload

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  Genetic screening for iron overload: no evidence of discrimination at 1 year: few patients had insurance or employment problems after being screened for hemochromatosis and iron overload

  Authors:Mark A. Hall, James C. Barton, Paul C. Adams, Christine E. McLaren, Jacob A. Reiss, Oswaldo Castro, et al.From:Journal of Family Practice (Vol. 56, Issue 10) Peer-Reviewed

  Oct. 20072,625 words Report 1680LAbstract Purpose This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload. Methods 101,168 primary care patients...
• Select Universal tumor screening for Lynch syndrome: assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers

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  Universal tumor screening for Lynch syndrome: assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers

  Authors:Jessica Ezzell Hunter, Jamilyn M. Zepp, Mari J. Gilmore, James V. Davis, Elizabeth J. Esterberg, Kristin R. Muessig, et al.From:Cancer (Vol. 121, Issue 18) Peer-Reviewed

  Sept. 15, 2015 Report

   Citation Only
• Select Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

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  Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

  Authors:Kerry K. Brown, Jacob A. Reiss, Kate Crow, Heather L. Ferguson, Chantal Kelly, Bernd Fritzsch, et al.From:Human Genetics (Vol. 127, Issue 1) Peer-Reviewed

  Jan. 20107,351 words Author abstract 1500LPrecisely regulated temporal and spatial patterns of gene expression are essential for proper human development. Cis-acting regulatory elements, some located at large distances from their corresponding genes, play a...
• Select Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.

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  Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.

  Authors:Kathleen F. Mittendorf, Jessica Ezzell Hunter, Jennifer L. Schneider, Elizabeth Shuster, Alan F. Rope, Jamilyn Zepp, et al.From:Hereditary Cancer in Clinical Practice (Vol. 17, Issue 1) Peer-Reviewed

  Dec. 16, 20195,396 words Report 1520LBackground Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare...
• Select Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

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  Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

  Authors:Marian J. Gilmore, Jennifer Schneider, James V. Davis, Tia L. Kauffman, Michael C. Leo, Kellene Bergen, et al.From:Journal of Genetic Counseling (Vol. 26, Issue 5) Peer-Reviewed

  Oct. 2017333 words Report

   Abstract Only
• Select "Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening

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  "Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening

  Authors:Jennifer L. Schneider, Katrina A. B. Goddard, James Davis, Benjamin Wilfond, Tia L. Kauffman, Jacob A. Reiss, et al.From:Journal of Genetic Counseling (Vol. 25, Issue 1) Peer-Reviewed

  Feb. 2016336 words Report

   Abstract Only
• Select Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

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  Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

  Authors:Michael C. Leo, Carmit McMullen, Benjamin S. Wilfond, Frances L. Lynch, Jacob A. Reiss, Marian J. Gilmore, et al.From:American Journal of Medical Genetics Part A (Vol. 170, Issue 3) Peer-Reviewed

  Mar. 2016358 words Report

   Abstract Only
• Select Generating a taxonomy for genetic conditions relevant to reproductive planning

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  Generating a taxonomy for genetic conditions relevant to reproductive planning

  Authors:Diane M. Korngiebel, Carmit K. McMullen, Laura M. Amendola, Jonathan S. Berg, James V. Davis, Marian J. Gilmore, et al.From:American Journal of Medical Genetics Part A (Vol. 170, Issue 3) Peer-Reviewed

  Mar. 2016306 words Report

   Abstract Only