K
Karin M. Dent
Researcher at University of Utah
Publications - 28
Citations - 3025
Karin M. Dent is an academic researcher from University of Utah. The author has contributed to research in topics: Genetic counseling & Genetic testing. The author has an hindex of 14, co-authored 24 publications receiving 2868 citations. Previous affiliations of Karin M. Dent include National Society of Genetic Counselors & University of Pittsburgh.
Papers
More filters
Journal ArticleDOI
Exome sequencing identifies the cause of a Mendelian disorder
Sarah B H Ng,Kati J. Buckingham,Choli Lee,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Karin M. Dent,Chad D. Huff,Paul Shannon,Ethylin Wang Jabs,Ethylin Wang Jabs,Deborah A. Nickerson,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +14 more
TL;DR: Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Journal ArticleDOI
Aggression and anger-related traits associated with a polymorphism of the tryptophan hydroxylase gene.
Stephen B. Manuck,Janine D. Flory,Robert E. Ferrell,Karin M. Dent,J. John Mann,Matthew F. Muldoon +5 more
TL;DR: In this paper, a study was conducted to evaluate the possible association between measures of antagonistic behavior and an intronic polymorphism of the gene coding for tryptophan hydroxylase (TPH), the rate-limiting enzyme in serotonin biosynthesis.
Journal ArticleDOI
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.
Karin M. Dent,D M Dunn,A. C. Von Niederhausern,A Aoyagi,Lynne M. Kerr,Mark B. Bromberg,K. J. Hart,Thérèse M. F. Tuohy,Stefan J. White,J.T. den Dunnen,Robert B. Weiss,Kevin M. Flanigan +11 more
TL;DR: The results indicate that 7% of dystrophinopathy patients do not have coding region mutations, suggesting that intronic mutations are not uncommon, and the availability of rapid and thorough mutation analysis from peripheral blood samples will be of benefit for improved genetic counseling and in identification of cohorts for clinical trials.
Journal ArticleDOI
Neuroticism is not associated with the serotonin transporter (5-HTTLPR) polymorphism.
Janine D. Flory,Stephen B. Manuck,Robert E. Ferrell,Karin M. Dent,David G. Peters,Matthew F. Muldoon +5 more
TL;DR: It is indicated that the reproducibility of the association between the 5-HTTLPR polymorphism and neuroticism must be regarded as questionable and the need for a replication attempt in a large, normative sample that is stratified by ethnicity and sex is suggested.
Journal ArticleDOI
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
Holly K. Tabor,Jacquie Stock,Tracy Brazg,Margaret J. McMillin,Karin M. Dent,Joon Ho Yu,Jay Shendure,Michael J. Bamshad +7 more
TL;DR: The need to develop a framework for results return that allows explicitly for participant preferences and enables modifications to preferences over time is highlighted, as in this study, where the perceived benefits of participation strongly trumped concerns about risks.