Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alexis R. Heidlebaugh"'
Autor:
Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Guido Rubboli
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID),
Externí odkaz:
https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3
Autor:
Karahlyn Holdren, Karen E. Wain, Christa Lese Martin, Kasia Tolwinski, Emily Palen, David H. Ledbetter, Lauren Kasparson Walsh, Alexis R Heidlebaugh, Matthew T. Oetjens
Publikováno v:
Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 365, p 365 (2021)
Volume 11
Issue 5
Journal of Personalized Medicine, Vol 11, Iss 365, p 365 (2021)
Volume 11
Issue 5
Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults’ immediate responses to receiving NPD-related results to inform inclusion in population-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b988cf7639fbd65b3885cf411835c95f
https://pubmed.ncbi.nlm.nih.gov/34062946
https://pubmed.ncbi.nlm.nih.gov/34062946
Autor:
Barbara B. Biesecker, F G Gaston-Johansson, William M. P. Klein, Leslie G. Biesecker, Katie L. Lewis, Alexis R Heidlebaugh, Tokunbor A. Lawal, David Ng, Jennifer J. Johnston
Publikováno v:
Clinical Genetics. 93:1022-1029
This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31a6dbcd16ced977d39d1ec8e6dc9534
https://doi.org/10.1111/cge.13220
https://doi.org/10.1111/cge.13220
Autor:
Carsten G. Bönnemann, Francis J. McMahon, Quino Maduro, Alan T. Remaley, Brian P. Brooks, Sirintorn Stantripop, Jennifer C. McDowell, Kendall L. Umstead, Gerard G. Bouffard, Erin Turbitt, Catherine A. Masiello, Karen Schandler, Jeffrey Baron, Jennifer J. Johnston, Beatrice B. Barnabas, Richelle Legaspi, James W. Thomas, Holly Coleman, Eileen Pelayo, Barbara B. Biesecker, D. Nadine Dogbe, Ilias Alevizos, Joel Moss, W. Marston Linehan, Helen C. Su, Casandra Montemayor, Brian Schmidt, Alice C. Young, Morgan Park, Meghana Vemulapalli, Richard M. Siegel, Pamela J. Thomas, Chanthra Scharer, Youn Hee Jee, Deborah Nielsen, Carlos A. Zarate, Christina Sison, Leslie G. Biesecker, Alexis R Heidlebaugh, Sandra Donkervoort, Nancy Riebow, Shelise Brooks, James C. Mullikin, Teri A. Manolio, Julie C. Sapp, Xiaobin Guan, Ane Miren Sagardia, S. L. Ho, Kate Driscoll, Joel Han, Lyudmila Dekhtyar
© 2018 While consensus regarding the return of secondary genomic findings in the clinical setting has been reached, debate about such findings in the research setting remains. We developed a hybrid, research-clinical translational genomics process f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8f30234ebb7d1b8ff21c42057bf2c8
https://europepmc.org/articles/PMC6128311/
https://europepmc.org/articles/PMC6128311/
Autor:
Erin Turbitt, Kristen P Fishler, Kendall L. Umstead, Jennifer J. Johnston, Leslie G. Biesecker, Ilana M. Miller, Katie L. Lewis, Alexis R Heidlebaugh, Barbara B. Biesecker, John H Patton
Importance A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them. Objective To test whether a web-based platform is noninferior to a genetic coun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9ae88ca2882a46f22dff87e102acf81
https://hdl.handle.net/10453/129813
https://hdl.handle.net/10453/129813