Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system

Autor: Anna C. Raper, Benita L. Weathers, Theodore G. Drivas, Colin A. Ellis, Colleen Morse Kripke, Randall A. Oyer, Anjali T. Owens, Anurag Verma, Paul E. Wileyto, Colin C. Wollack, Wenting Zhou, Marylyn D. Ritchie, Robert A. Schnoll, Katherine L. Nathanson

Publikováno v: Implementation Science, Vol 19, Iss 1, Pp 1-15 (2024)

Abstract Background Germline genetic testing is recommended for an increasing number of conditions with underlying genetic etiologies, the results of which impact medical management. However, genetic testing is underutilized in clinics due to system,

Externí odkaz: https://doaj.org/article/74eb2115f4614d7abd18eefde9e0794d

Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders

Autor: Xinyuan Zhang, Anastasia M. Lucas, Yogasudha Veturi, Theodore G. Drivas, William P. Bone, Anurag Verma, Wendy K. Chung, David Crosslin, Joshua C. Denny, Scott Hebbring, Gail P. Jarvik, Iftikhar Kullo, Eric B. Larson, Laura J. Rasmussen-Torvik, Daniel J. Schaid, Jordan W. Smoller, Ian B. Stanaway, Wei-Qi Wei, Chunhua Weng, Marylyn D. Ritchie

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)

Circulatory system diseases and nervous system disorders often co-occur in patients. Here the authors use eMERGE and UK BioBank data to identify genomic regions associated with both phenotypes, providing insight into the relationship between these co

Externí odkaz: https://doaj.org/article/4e82c50b745f4c0f8cbf12c5aaa0ea67

Comparison of Transthoracic Contrast Echocardiography to High-Resolution Chest Computed Tomography after Embolization of Pulmonary Arteriovenous Malformation

Autor: Nicole R. Curnes, Matthew L. Hung, Daniel M. DePietro, Victor A. Ferrari, Theodore G. Drivas, Jesse Chittams, Ryan Quinn, Scott O. Trerotola

Publikováno v: Journal of Vascular and Interventional Radiology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0f32d6b70771ecea0a80d34421bb6a38
https://doi.org/10.1016/j.jvir.2023.04.023

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Autor: Ann Seman, Rixa Woitschach, Duygu Selcen, Divya Nair, Lauren Gunderson, Mahim Jain, Sha Tang, Giuseppe Zampino, Julien L. Marcadier, Marielle Alders, Jason Pinner, Melanie Napier, Linda Hasadsri, Marina Macchiaiolo, Alyssa Blesson, Pavel N. Pichurin, Joseph T. Alaimo, Arjan Bouman, Philippe M. Campeau, Catherine Karimov, Chitra Prasad, Anne Dieux-Coeslier, Nicole L. Bertsch, Bernd Wollnik, Janine Altmüller, Zöe Powis, Holly Dubbs, Tahsin Stefan Barakat, Gregory M. Cooper, Kristen J. Rasmussen, Perrine Brunelle, Patrick R. Blackburn, Erica D. Smith, Jeff M. Milunsky, Katja Kloth, E. Martina Bebin, Lot Snijders Blok, Knut Brockmann, Karin Weiss, Xilma R. Ortiz-Gonzalez, Danna Gal, Dong Li, Francesca Clementina Radio, Joan M. Stoler, Elaine H. Zackai, Jiddeke M. van de Kamp, Deepali N. Shinde, Huifang Yan, Thomas Smol, Alejandro Ferrer, Dagmar Weise, Baiba Lace, Deborah L. Renaud, Lauren E. Bartik, Beth Keena, Michelle L. Thompson, Carol J Saunders, Theodore G. Drivas, Elizabeth J. Bhoj, Eric T. Rush, Marco Tartaglia, Eric W. Klee, Margit Burmeister, Jingmin Wang, Jonas Denecke

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 28(10), 1422-1431. Nature Publishing Group
European journal of human genetics, 28(10), 1422-1431. Nature Publishing Group
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, ' A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431 . https://doi.org/10.1038/s41431-020-0654-4

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8997b44327295298fb449da17d5284af
http://europepmc.org/articles/PMC7608102

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Autor: Theodore G. Drivas, Samantha A. Schrier Vergano, Ashley Vasko

Publikováno v: Genes, Vol 12, Iss 937, p 937 (2021)
Genes
Volume 12
Issue 6

Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce72e16d1d5027b521ad8c3ed8e6345
https://www.mdpi.com/2073-4425/12/6/937