Search Results - "Haverfield, Eden V."

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives by Schmidlen, Tara J, Bristow, Sara L, Hatchell, Kathryn E, Esplin, Edward D, Nussbaum, Robert L, Haverfield, Eden V

“…Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a…”
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study 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, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L

“…Abstract Background The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines…”
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Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study 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, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis by Sturm, Amy C, Truty, Rebecca, Callis, Thomas E, Aguilar, Sienna, Esplin, Edward D, Garcia, Sarah, Haverfield, Eden V, Morales, Ana, Nussbaum, Robert L, Rojahn, Susan, Vatta, Matteo, Rader, Daniel J

“…Familial hypercholesterolemia (FH) is the most common inherited cardiovascular disease and carries significant morbidity and mortality risks. Genetic testing…”
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Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy by Celis, Katrina, Shuldiner, Scott, Haverfield, Eden V., Cappell, Joshua, Yang, Rongze, Gong, Da-Wei, Chung, Wendy K.

“…Intellectual disability is genetically heterogeneous, and it is likely that many of the responsible genes have not yet been identified. We describe three…”
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia by HAVERFIELD, Eden V, WHITED, Amanda J, PETRAS, Kristin S, DOBYNS, William B, DAS, Soma

“…Classical lissencephaly, or isolated lissencephaly sequence (ILS), and subcortical band heterotopia (SBH) are neuronal migration disorders associated with…”
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome by Liu, Jinglan, Feldman, Rachel, Zhang, Zhe, Deardorff, Matthew A, Haverfield, Eden V, Kaur, Maninder, Li, Jennifer R, Clark, Dinah, Kline, Antonie D, Waggoner, Darrel J, Das, Soma, Jackson, Laird G, Krantz, Ian D

“…Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multisystem abnormalities. Sixty percent of probands with CdLS…”
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UGT1A1 variation and gallstone formation in sickle cell disease by Haverfield, Eden V., McKenzie, Colin A., Forrester, Terrence, Bouzekri, Nourdine, Harding, Rosalind, Serjeant, Graham, Walker, Thomas, Peto, Tim E.A., Ward, Ryk, Weatherall, David J.

“…Pigment gallstones are a common clinical complication of sickle cell (SS) disease. Genetic variation in the promoter of uridine diphosphate…”
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Comparison of performance of three commercial platforms for warfarin sensitivity genotyping by Babic, Nikolina, Haverfield, Eden V., Burrus, Julie A., Lozada, Anthony, Das, Soma, Yeo, Kiang-Teck J.

“…We performed a 3-way comparison on the Osmetech eSensor®, AutoGenomics INFINITI™, and a real-time PCR method (Paragonx™ reagents/Stratagene® RT-PCR platform)…”
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Pharmacogenomics of Deferiprone Metabolism by Haverfield, Eden V., Weatherall, David J., Graber, Andrea Yoder, Ramirez, Jacqueline, Ratain, Mark J.

“…Individuals with transfusion-dependent β-thalassemia can be affected by iron accumulation in the heart and liver, resulting in liver fibrosis, cardiomyopathy…”
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