全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Wendy R. Uhlmann , Katie Schwalm , Victoria M. Raymond
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (4), pp.657-668Springer
摘要:Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authoriz...
作者:Wendy R. Uhlmann , J. Scott Roberts
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (6), pp.1197-1212Springer
摘要:The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts d...
作者:Linford A. Williams , Shane C. Quinonez , Wendy R. Uhlmann
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (5), pp.894-901Springer
摘要:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2 , identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evalua...
作者:... Howard M. Saal , Laurie Edmondson , Wendy R. Uhlmann
来源:[J].The Journal of Pediatrics(IF 4.035), 2015, Vol.167 (6), pp.1404-1408.e1Elsevier
摘要:Objective(#br)To examine the decisions of pediatric primary care physicians about their diagnostic evaluation for a child with suspected global developmental delay (GDD).(#br)Study design(#br)A survey was mailed to a sample of pediatricians (n = 600) and family physicians (n = 60...
作者:Wendy R. Uhlmann , Scott Y.H. Kim ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2017, Vol.26 (1), pp.122-132Springer
摘要:Abstract(#br)The increased use of genomic sequencing in clinical diagnostics and therapeutics makes imperative the development of guidelines and policies about how to handle secondary findings. For reasons both practical and ethical, the creation of these guidelines must tak...
作者:Wendy R. Uhlmann , Erin P. Hoffman ...
来源:[J].Journal of Genetic Counseling(IF 1.454), 2016, Vol.25 (6), pp.1139-1145Springer
摘要:Abstract(#br)Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to ob...
作者:... Brian C. Callaghan , Jack Harrington , Wendy R. Uhlmann
来源:[J].Journal of Genetic Counseling(IF 1.454), 2014, Vol.23 (5), pp.725-733Springer
摘要:Abstract(#br)Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co-occurrence of ALS with HD. We present a 57-year-old male with a cli...
作者:J. Scott Roberts , Wendy R. Uhlmann
来源:[J].Progress in Neurobiology(IF 9.035), 2013, Vol.110, pp.89-101Elsevier
摘要:Abstract(#br)As the genetics of neurodegenerative disease become better understood, opportunities for genetic susceptibility testing for at-risk individuals will increase. Such testing raises important ethical and practice issues related to test access, informed consent, ris...

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