Search

Your search keyword '"Sincan, Murat"' showing total 139 results
Start Over Author "Sincan, Murat"
139 results on '"Sincan, Murat"'

2. Treatment (Tx) inequities in patients (pts) with metastatic non-small cell lung cancer (mNSCLC) harboring actionable driver oncogenes (ADO) in the first-line (1L) setting.

Author

Vidal, Gregory A., primary, Stricker, Thomas, additional, Ma, Esprit, additional, Yu, Elaine, additional, Xia, Zhiyu, additional, Sheinson, Daniel, additional, Sincan, Murat, additional, Huang, Richard S. P., additional, Lin, Victor T. G., additional, Zuniga, Richard Michael, additional, Jain, Neha M., additional, Martin, Richard Lewis, additional, and Daniel, Davey B., additional

Published
2024
Full Text
View/download PDF

3. Deep Geodesic Learning for Segmentation and Anatomical Landmarking

Author

Torosdagli, Neslisah, Liberton, Denise K., Verma, Payal, Sincan, Murat, Lee, Janice S., and Bagci, Ulas

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

In this paper, we propose a novel deep learning framework for anatomy segmentation and automatic landmark- ing. Specifically, we focus on the challenging problem of mandible segmentation from cone-beam computed tomography (CBCT) scans and identification of 9 anatomical landmarks of the mandible on the geodesic space. The overall approach employs three inter-related steps. In step 1, we propose a deep neu- ral network architecture with carefully designed regularization, and network hyper-parameters to perform image segmentation without the need for data augmentation and complex post- processing refinement. In step 2, we formulate the landmark localization problem directly on the geodesic space for sparsely- spaced anatomical landmarks. In step 3, we propose to use a long short-term memory (LSTM) network to identify closely- spaced landmarks, which is rather difficult to obtain using other standard detection networks. The proposed fully automated method showed superior efficacy compared to the state-of-the- art mandible segmentation and landmarking approaches in craniofacial anomalies and diseased states. We used a very challenging CBCT dataset of 50 patients with a high-degree of craniomaxillofacial (CMF) variability that is realistic in clinical practice. Complementary to the quantitative analysis, the qualitative visual inspection was conducted for distinct CBCT scans from 250 patients with high anatomical variability. We have also shown feasibility of the proposed work in an independent dataset from MICCAI Head-Neck Challenge (2015) achieving the state-of-the-art performance. Lastly, we present an in-depth analysis of the proposed deep networks with respect to the choice of hyper-parameters such as pooling and activation functions., Comment: 14 pages, 12 Figures, IEEE Transactions on Medical Imaging 2018, TMI-2018-0898.R1

Published
2018

4. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius OB, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley JF, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Networking and Information Technology R&D (NITRD), Rare Diseases, Generic health relevance, Good Health and Well Being, Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Whole Genome Sequencing, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2019

5. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus

Author

Heon Kwak, Soo, primary, B. Hernandez-Cancela, Ryan, primary, A DiCorpo, Daniel, primary, E. Condon, David, primary, Merino, Jordi, primary, Wu, Peitao, primary, A Brody, Jennifer, primary, Yao, Jie, primary, Guo, Xiuqing, primary, Ahmadizar, Fariba, primary, Meyer, Mariah, primary, Sincan, Murat, primary, M. Mercader, Josep, primary, Lee, Sujin, primary, Haessler, Jeffrey, primary, My T. Vy, Ha, primary, Lin, Zhaotong, primary, D. Armstrong, Nicole, primary, Gu, Shaopeng, primary, L. Tsao, Noah, primary, A. Lange, Leslie, primary, Wang, Ningyuan, primary, L. Wiggins, Kerri, primary, Trompet, Stella, primary, Liu, Simin, primary, J.F. Loos, Ruth, primary, Judy, Renae, primary, H. Schroeder, Philip, primary, Hasbani, Natalie R., primary, M. Bos, Maxime, primary, C. Morrison, Alanna, primary, D. Jackson, Rebecca, primary, P. Reiner, Alexander, primary, E. Manson, JoAnn, primary, S. Chaudhary, Ninad, primary, K. Carmichael, Lynn, primary, Ida Chen, Yii-Der, primary, D. Taylor, Kent, primary, Ghanbari, Mohsen, primary, van Meurs, Joyce, primary, N Pitsillides, Achilleas, primary, M. Psaty, Bruce, primary, Noordam, Raymond, primary, Do, Ron, primary, Soo Park, Kyong, primary, Wouter Jukema, J, primary, Kavousi, Maryam, primary, Correa, Adolfo, primary, S. Rich, Stephen, primary, M. Damrauer, Scott, primary, Hajek, Catherine, primary, H. Cho, Nam, primary, R. Irvin, Marguerite, primary, S. Pankow, James, primary, N. Nadkarni, Girish, primary, Sladek, Robert, primary, O. Goodarzi, Mark, primary, C. Florez, Jose, primary, I. Chasman, Daniel, primary, R. Heckbert, Susan, primary, Kooperberg, Charles, primary, Dupuis, Josée, primary, Malhotra, Rajeev, primary, S. de Vries, Paul, primary, Liu, Ching-Ti, primary, I. Rotter, Jerome, primary, and B. Meigs, James, primary

Published
2024
Full Text
View/download PDF

6. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes.

Author

Kwak, Soo Heon, Hernandez-Cancela, Ryan B., DiCorpo, Daniel A., Condon, David E., Merino, Jordi, Wu, Peitao, Brody, Jennifer A., Yao, Jie, Guo, Xiuqing, Ahmadizar, Fariba, Meyer, Mariah, Sincan, Murat, Mercader, Josep M., Lee, Sujin, Haessler, Jeffrey, Vy, Ha My T., Lin, Zhaotong, Armstrong, Nicole D., Gu, Shaopeng, and Tsao, Noah L.

Subjects
GENOME-wide association studies, TYPE 2 diabetes, CARDIOVASCULAR diseases, CARDIOVASCULAR diseases risk factors, CORONARY artery disease
Abstract

OBJECTIVE: To identify genetic risk factors for incident cardiovascular disease (CVD) among people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We conducted a multiancestry time-to-event genome-wide association study for incident CVD among people with T2D. We also tested 204 known coronary artery disease (CAD) variants for association with incident CVD. RESULTS: Among 49,230 participants with T2D, 8,956 had incident CVD events (event rate 18.2%). We identified three novel genetic loci for incident CVD: rs147138607 (near CACNA1E/ZNF648 , hazard ratio [HR] 1.23, P = 3.6 × 10−9), rs77142250 (near HS3ST1 , HR 1.89, P = 9.9 × 10−9), and rs335407 (near TFB1M/NOX3 , HR 1.25, P = 1.5 × 10−8). Among 204 known CAD loci, 5 were associated with incident CVD in T2D (multiple comparison–adjusted P < 0.00024, 0.05/204). A standardized polygenic score of these 204 variants was associated with incident CVD with HR 1.14 (P = 1.0 × 10−16). CONCLUSIONS: The data point to novel and known genomic regions associated with incident CVD among individuals with T2D. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. Racial and Ethnic Inequities at the Practice and Physician Levels in Timely Next-Generation Sequencing for Patients With Advanced Non–Small-Cell Lung Cancer Treated in the US Community Setting

Author

Vidal, Gregory A., primary, Jain, Neha, additional, Fisher, Aaron, additional, Sheinson, Daniel, additional, Lofgren, Katherine T., additional, Ma, Esprit, additional, Yu, Elaine, additional, Comment, Leah, additional, Miksad, Rebecca, additional, Sincan, Murat, additional, Martin, Richard Lewis, additional, Zuniga, Richard, additional, and Daniel, Davey, additional

Published
2024
Full Text
View/download PDF

8. Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

Author

Links, Amanda E, Draper, David, Lee, Elizabeth, Guzman, Jessica, Valivullah, Zaheer, Maduro, Valerie, Lebedev, Vlad, Didenko, Maxim, Tomlin, Garrick, Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Haendel, Melissa A, Mungall, Christopher J, Smedley, Damian, Hochheiser, Harry, Arnold, Andrew M, Coessens, Bert, Verhoeven, Steven, Bone, William, Adams, David, Boerkoel, Cornelius F, Gahl, William A, and Sincan, Murat

Subjects
Health Services and Systems, Health Sciences, Good Health and Well Being, information system, ontology-based phenotyping, precision medicine, process management system, translational research, Biomedical and clinical sciences, Health sciences
Abstract

The National Institutes of Health Undiagnosed Diseases Program (NIH UDP) applies translational research systematically to diagnose patients with undiagnosed diseases. The challenge is to implement an information system enabling scalable translational research. The authors hypothesized that similar complex problems are resolvable through process management and the distributed cognition of communities. The team, therefore, built the NIH UDP integrated collaboration system (UDPICS) to form virtual collaborative multidisciplinary research networks or communities. UDPICS supports these communities through integrated process management, ontology-based phenotyping, biospecimen management, cloud-based genomic analysis, and an electronic laboratory notebook. UDPICS provided a mechanism for efficient, transparent, and scalable translational research and thereby addressed many of the complex and diverse research and logistical problems of the NIH UDP. Full definition of the strengths and deficiencies of UDPICS will require formal qualitative and quantitative usability and process improvement measurement.

Published
2016

9. International Co-Teaching of Medical Informatics for Training-the-Trainers in Content and Distance Education

Author

Lewis, Kadriye O. and Sincan, Murat

Abstract

In this technologically advanced age, much emphasis is put on collaboration in education at many levels. As a result, faculty co-teaching (collaborative teaching) has grown dramatically. This paper introduces how two instructors from different countries (USA and Turkey), one experienced in online teaching and the other in medical informatics, collaborated successfully, to develop and teach an online medical informatics course. This study outlines effective strategies in co-teaching and student satisfaction with the course and includes various instructional techniques for cost effective technology for communicating at a distance. (Contains 3 tables.)

Published
2009

10. Precision Population Medicine in Primary Care: The Sanford Chip Experience

Author

Kurt D. Christensen, Megan Bell, Carrie L. B. Zawatsky, Lauren N. Galbraith, Robert C. Green, Allison M. Hutchinson, Leila Jamal, Jessica L. LeBlanc, Jennifer R. Leonhard, Michelle Moore, Lisa Mullineaux, Natasha Petry, Dylan M. Platt, Sherin Shaaban, April Schultz, Bethany D. Tucker, Joel Van Heukelom, Elizabeth Wheeler, Emilie S. Zoltick, Catherine Hajek, on behalf of the Imagenetics Metrics Team, Baye Jordan, Bell Megan, Deberg Kristen, Forred Benjamin, Free Colette, Hajek Catherine, Heukelom Joel Van, Hopp Ashley, Hutchinson Allison, Lees Ryne, Leonhard Jennifer, Massmann Amanda, Moore Michelle, Mroch Amelia, Petry Natasha, Platt Dylan, Royer Erin, Schultz April, Sincan Murat, Tucker Bethany, Wheeler Elizabeth, Christensen Kurt, Galbraith Lauren, LeBlanc Jessica, Walsh Ryan, Zoltick Emilie, Green Robert, Preys Charlene, Zawatsky Carrie, Mullineaux Lisa, and Jamal Leila

Subjects
pharmacogenomic testing, genetic counseling, decision support systems – clinical, genetic testing, primary health care, Genetics, QH426-470
Abstract

Genetic testing has the potential to revolutionize primary care, but few health systems have developed the infrastructure to support precision population medicine applications or attempted to evaluate its impact on patient and provider outcomes. In 2018, Sanford Health, the nation’s largest rural nonprofit health care system, began offering genetic testing to its primary care patients. To date, more than 11,000 patients have participated in the Sanford Chip Program, over 90% of whom have been identified with at least one informative pharmacogenomic variant, and about 1.5% of whom have been identified with a medically actionable predisposition for disease. This manuscript describes the rationale for offering the Sanford Chip, the programs and infrastructure implemented to support it, and evolving plans for research to evaluate its real-world impact.

Published
2021
Full Text
View/download PDF

11. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus

Author

Kwak, Soo Heon, primary, Hernandez-Cancela, Ryan B., additional, DiCorpo, Daniel A, additional, Condon, David E., additional, Merino, Jordi, additional, Wu, Peitao, additional, Brody, Jennifer A, additional, Yao, Jie, additional, Guo, Xiuqing, additional, Ahmadizar, Fariba, additional, Meyer, Mariah, additional, Sincan, Murat, additional, Mercader, Josep M., additional, Lee, Sujin, additional, Haessler, Jeffrey, additional, Vy, Ha My T., additional, Lin, Zhaotong, additional, Armstrong, Nicole D., additional, Gu, Shaopeng, additional, Tsao, Noah L., additional, Lange, Leslie A., additional, Wang, Ningyuan, additional, Wiggins, Kerri L., additional, Trompet, Stella, additional, Liu, Simin, additional, Loos, Ruth J.F., additional, Judy, Renae, additional, Schroeder, Philip H., additional, Hasbani, Natalie R., additional, Bos, Maxime M., additional, Morrison, Alanna C., additional, Jackson, Rebecca D., additional, Reiner, Alexander P., additional, Manson, JoAnn E., additional, Chaudhary, Ninad S., additional, Carmichael, Lynn K., additional, Chen, Yii-Der Ida, additional, Taylor, Kent D., additional, Ghanbari, Mohsen, additional, van Meurs, Joyce, additional, Pitsillides, Achilleas N, additional, Psaty, Bruce M., additional, Noordam, Raymond, additional, Do, Ron, additional, Park, Kyong Soo, additional, Jukema, J Wouter, additional, Kavousi, Maryam, additional, Correa, Adolfo, additional, Rich, Stephen S., additional, Damrauer, Scott M., additional, Hajek, Catherine, additional, Cho, Nam H., additional, Irvin, Marguerite R., additional, Pankow, James S., additional, Nadkarni, Girish N., additional, Sladek, Robert, additional, Goodarzi, Mark O., additional, Florez, Jose C., additional, Chasman, Daniel I., additional, Heckbert, Susan R., additional, Kooperberg, Charles, additional, Dupuis, Josée, additional, Malhotra, Rajeev, additional, de Vries, Paul S., additional, Liu, Ching-Ti, additional, Rotter, Jerome I., additional, and Meigs, James B., additional

Published
2023
Full Text
View/download PDF

12. Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.

Author

Walton, Nephi A, Nagarajan, Radha, Wang, Chen, Sincan, Murat, Freimuth, Robert R, Everman, David B, Walton, Derek C, McGrath, Scott P, Lemas, Dominick J, Benos, Panayiotis V, Alekseyenko, Alexander V, Song, Qianqian, Uzun, Ece Gamsiz, Taylor, Casey Overby, Uzun, Alper, Person, Thomas Nate, Rappoport, Nadav, Zhao, Zhongming, and Williams, Marc S

Abstract

Objective Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association—Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can further enable the clinical application of AI in this space. Process A list of relevant factors was developed through GenTBI workgroup discussions in multiple in-person and online meetings, along with review of pertinent publications. This list was then summarized and reviewed to achieve consensus among the group members. Conclusions Substantial informatics research and development are needed to fully realize the clinical potential of such technologies. The development of larger datasets is crucial to emulating the success AI is achieving in other domains. It is important that AI methods do not exacerbate existing socio-economic, racial, and ethnic disparities. Genomic data standards are critical to effectively scale such technologies across institutions. With so much uncertainty, complexity and novelty in genomics and medicine, and with an evolving regulatory environment, the current focus should be on using these technologies in an interface with clinicians that emphasizes the value each brings to clinical decision-making. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

13. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus

Author

RWE/Causal inference, Child Health, Kwak, Soo Heon, Hernandez-Cancela, Ryan B, DiCorpo, Daniel A, Condon, David E, Merino, Jordi, Wu, Peitao, Brody, Jennifer A, Yao, Jie, Guo, Xiuqing, Ahmadizar, Fariba, Meyer, Mariah, Sincan, Murat, Mercader, Josep M, Lee, Sujin, Haessler, Jeffrey, Vy, Ha My T, Lin, Zhaotong, Armstrong, Nicole D, Gu, Shaopeng, Tsao, Noah L, Lange, Leslie A, Wang, Ningyuan, Wiggins, Kerri L, Trompet, Stella, Liu, Simin, Loos, Ruth J F, Judy, Renae, Schroeder, Philip H, Hasbani, Natalie R, Bos, Maxime M, Morrison, Alanna C, Jackson, Rebecca D, Reiner, Alexander P, Manson, JoAnn E, Chaudhary, Ninad S, Carmichael, Lynn K, Chen, Yii-Der Ida, Taylor, Kent D, Ghanbari, Mohsen, van Meurs, Joyce, Pitsillides, Achilleas N, Psaty, Bruce M, Noordam, Raymond, Do, Ron, Park, Kyong Soo, Jukema, J Wouter, Kavousi, Maryam, Correa, Adolfo, Rich, Stephen S, Damrauer, Scott M, Hajek, Catherine, Cho, Nam H, Irvin, Marguerite R, Pankow, James S, Nadkarni, Girish N, Sladek, Robert, Goodarzi, Mark O, Florez, Jose C, Chasman, Daniel I, Heckbert, Susan R, Kooperberg, Charles, Dupuis, Josée, Malhotra, Rajeev, de Vries, Paul S, Liu, Ching-Ti, Rotter, Jerome I, Meigs, James B, RWE/Causal inference, Child Health, Kwak, Soo Heon, Hernandez-Cancela, Ryan B, DiCorpo, Daniel A, Condon, David E, Merino, Jordi, Wu, Peitao, Brody, Jennifer A, Yao, Jie, Guo, Xiuqing, Ahmadizar, Fariba, Meyer, Mariah, Sincan, Murat, Mercader, Josep M, Lee, Sujin, Haessler, Jeffrey, Vy, Ha My T, Lin, Zhaotong, Armstrong, Nicole D, Gu, Shaopeng, Tsao, Noah L, Lange, Leslie A, Wang, Ningyuan, Wiggins, Kerri L, Trompet, Stella, Liu, Simin, Loos, Ruth J F, Judy, Renae, Schroeder, Philip H, Hasbani, Natalie R, Bos, Maxime M, Morrison, Alanna C, Jackson, Rebecca D, Reiner, Alexander P, Manson, JoAnn E, Chaudhary, Ninad S, Carmichael, Lynn K, Chen, Yii-Der Ida, Taylor, Kent D, Ghanbari, Mohsen, van Meurs, Joyce, Pitsillides, Achilleas N, Psaty, Bruce M, Noordam, Raymond, Do, Ron, Park, Kyong Soo, Jukema, J Wouter, Kavousi, Maryam, Correa, Adolfo, Rich, Stephen S, Damrauer, Scott M, Hajek, Catherine, Cho, Nam H, Irvin, Marguerite R, Pankow, James S, Nadkarni, Girish N, Sladek, Robert, Goodarzi, Mark O, Florez, Jose C, Chasman, Daniel I, Heckbert, Susan R, Kooperberg, Charles, Dupuis, Josée, Malhotra, Rajeev, de Vries, Paul S, Liu, Ching-Ti, Rotter, Jerome I, and Meigs, James B

Published
2023

14. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Author

Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J., Cruz, Pedro, Mullikin, James C., Bonnemann, Carsten, Gahl, William A., Boerkoel, Cornelius F., and Tifft, Cynthia J.

Published
2013
Full Text
View/download PDF

15. Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Author

Gunay–Aygun, Meral, Font–Montgomery, Esperanza, Lukose, Linda, Tuchman Gerstein, Maya, Piwnica–Worms, Katie, Choyke, Peter, Daryanani, Kailash T., Turkbey, Baris, Fischer, Roxanne, Bernardini, Isa, Sincan, Murat, Zhao, Xiongce, Sandler, Netanya G., Roque, Annelys, Douek, Daniel C., Graf, Jennifer, Huizing, Marjan, Bryant, Joy C., Mohan, Parvathi, Gahl, William A., and Heller, Theo

Published
2013
Full Text
View/download PDF

17. Improved provider preparedness through an 8-part genetics and genomic education program

Author

Hajek, Catherine, primary, Hutchinson, Allison M., additional, Galbraith, Lauren N., additional, Green, Robert C., additional, Murray, Michael F., additional, Petry, Natasha, additional, Preys, Charlene L., additional, Zawatsky, Carrie L.B., additional, Zoltick, Emilie S., additional, Christensen, Kurt D., additional, Baye, Jordan, additional, Bell, Megan, additional, Deberg, Kristen, additional, Forred, Benjamin, additional, Free, Colette, additional, Hajek, Catherine, additional, Van Heukelom, Joel, additional, Hopp, Ashley, additional, Hutchinson, Allison, additional, Lees, Ryne, additional, Leonhard, Jennifer, additional, Massmann, Amanda, additional, Moore, Michelle, additional, Mroch, Amelia, additional, Platt, Dylan, additional, Royer, Erin, additional, Schultz, April, additional, Sincan, Murat, additional, Tucker, Bethany, additional, Wheeler, Elizabeth, additional, Christensen, Kurt, additional, Galbraith, Lauren, additional, LeBlanc, Jessica, additional, Walsh, Ryan, additional, Zoltick, Emilie, additional, Green, Robert, additional, Preys, Charlene, additional, Zawatsky, Carrie, additional, Mullineaux, Lisa, additional, and Jamal, Leila, additional

Published
2022
Full Text
View/download PDF

18. Abstract 13252: Is There a Gender-Specific Association Between High Coronary Artery Calcium Score and High Polygenic CAD Risk Score?

Author

Saad Shaukat, Muhammad Hamza, primary, Rynders, Beatrice, additional, Petrasko, Mark, additional, Hajek, Catherine, additional, Petrasko, Phillip, additional, Pham, Melissa, additional, stys, patryk, additional, Sjovold, Alexander, additional, Stys, Veronica, additional, Singh, Komaldeep, additional, Coy, Kevin, additional, Lubke, Michael, additional, Sincan, Murat, additional, Stys, Adam, additional, Petrasko, Marian S, additional, and Stys, Tom, additional

Published
2021
Full Text
View/download PDF

19. Abstract 12277: Concordance of High Polygenic CAD Risk Score With High Coronary Artery Calcium Score & Low Polygenic CAD Risk Score With Low Coronary Artery Calcium Score: A Real World Experience

Author

Saad Shaukat, Muhammad Hamza, primary, stys, patryk, additional, Sjovold, Alexander, additional, Hajek, Catherine, additional, Petrasko, Phillip, additional, Pham, Melissa, additional, Stys, Veronica, additional, Petrasko, Mark, additional, Rynders, Beatrice, additional, Singh, Komaldeep, additional, Coy, Kevin, additional, Herman, Michael, additional, Sincan, Murat, additional, Stys, Adam, additional, Petrasko, Marian S, additional, and Stys, Tomasz, additional

Published
2021
Full Text
View/download PDF

20. Abstract 14381: High Coronary Artery Calcium Score Predicts Earlier and More Frequent Need for Cardiac Revascularization - A Large Scale, Single Center Study

Author

coy, kevin, primary, Varga, Zoltan, additional, Rynders, Beatrice, additional, Sjovold, Alexander, additional, Stys, Veronica, additional, Petrasko, Mark, additional, Petrasko, Phillip, additional, Pham, Melissa, additional, stys, patryk, additional, Singh, Komaldeep, additional, singh, Aditya, additional, Saad Shaukat, Muhammad Hamza, additional, Hajek, Catherine, additional, Sincan, Murat, additional, Petrasko, Marian S, additional, Stys, Adam, additional, and Stys, Tom, additional

Published
2021
Full Text
View/download PDF

21. Abstract 14392: Progression of Coronary Artery Calcium Score Predicts Higher Risk for Coronary Revascularization

Author

Coy, Kevin, primary, singh, Aditya, additional, Petrasko, Mark, additional, Pham, Melissa, additional, Petrasko, Phillip, additional, Rynders, Beatrice, additional, Sjovold, Alexander, additional, Stys, Patryk, additional, Stys, Veronica, additional, Singh, Komaldeep, additional, Saad Shaukat, Muhammad Hamza, additional, Varga, Zoltan, additional, Hajek, Catherine, additional, Sincan, Murat, additional, Petrasko, Marian S, additional, Stys, Adam, additional, and Stys, Tom, additional

Published
2021
Full Text
View/download PDF

22. Abstract 10246: Low Polygenic CAD Risk Score is Associated with Coronary Artery Calcium Score of Zero: A Real World Experience

Author

Saad Shaukat, Muhammad Hamza, primary, Stys, Veronica, additional, stys, patryk, additional, Hajek, Catherine, additional, Petrasko, Phillip, additional, Pham, Melissa, additional, Rynders, Beatrice, additional, Petrasko, Mark, additional, Sjovold, Alexander, additional, Singh, Komaldeep, additional, Coy, Kevin, additional, Herman, Michael, additional, Sincan, Murat, additional, Stys, Adam, additional, Petrasko, Marian S, additional, and Stys, Tomasz P, additional

Published
2021
Full Text
View/download PDF

23. Kanıta Dayalı Tıp ve Tıp Kütüphaneciliği

Author

Sincan, Murat

Subjects
BH. Information needs and information requirements analysis., AC. Relationship of LIS with other fields., DK. Health libraries, Medical libraries., AA. Library and information science as a field.
Abstract

Medical profession is in a transition as it has never been since its foundation thousands of years ago. We are experiencing a world where paternalistic medicine is being given up by most practitioners as hundreds of articles are published daily on scientific journals and patients can acquire the most contemporary scientific information through internet instantaneously. Hence this concept renders a shift from Experience Based Medicine towards Evidence Based Medicine (EBM). EBM requires a team effort in which clinicians, medical informatics specialists and medical librarians need to work together thus providing patients -the most reliable and contemporary scientific evidence- with best informed choices for their diagnosis and treatment process. EBM is a team effort in which clinicians, medical informatics specialists and medical librarians should work together to provide the patients -using the best evidence from contemporary and reliable scientific evidence– with best informed choices in their diagnosis and treatment process. This study is intended to discuss Evidence Based Medicine and its relation with to the profession of medical librarianship.

Published
2003

29. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Genetica, UMC Utrecht, Genetica Klinische Genetica, Brain, Child Health, Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O.B., Danis, Daniel, Gourdine, Jean Philippe, Gargano, Michael, Harris, Nomi L., Matentzoglu, Nicolas, McMurry, Julie A., Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P., Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C., Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley J.F., Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F., Sergouniotis, Panagiotis I., Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan M., Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C., Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A., Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius F., Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa A., Mungall, Chris, Robinson, Peter N., Genetica, UMC Utrecht, Genetica Klinische Genetica, Brain, Child Health, Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O.B., Danis, Daniel, Gourdine, Jean Philippe, Gargano, Michael, Harris, Nomi L., Matentzoglu, Nicolas, McMurry, Julie A., Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P., Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C., Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley J.F., Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F., Sergouniotis, Panagiotis I., Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan M., Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C., Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A., Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius F., Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa A., Mungall, Chris, and Robinson, Peter N.

Published
2019

33. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, Sebastian, primary, Carmody, Leigh, additional, Vasilevsky, Nicole, additional, Jacobsen, Julius O B, additional, Danis, Daniel, additional, Gourdine, Jean-Philippe, additional, Gargano, Michael, additional, Harris, Nomi L, additional, Matentzoglu, Nicolas, additional, McMurry, Julie A, additional, Osumi-Sutherland, David, additional, Cipriani, Valentina, additional, Balhoff, James P, additional, Conlin, Tom, additional, Blau, Hannah, additional, Baynam, Gareth, additional, Palmer, Richard, additional, Gratian, Dylan, additional, Dawkins, Hugh, additional, Segal, Michael, additional, Jansen, Anna C, additional, Muaz, Ahmed, additional, Chang, Willie H, additional, Bergerson, Jenna, additional, Laulederkind, Stanley J F, additional, Yüksel, Zafer, additional, Beltran, Sergi, additional, Freeman, Alexandra F, additional, Sergouniotis, Panagiotis I, additional, Durkin, Daniel, additional, Storm, Andrea L, additional, Hanauer, Marc, additional, Brudno, Michael, additional, Bello, Susan M, additional, Sincan, Murat, additional, Rageth, Kayli, additional, Wheeler, Matthew T, additional, Oegema, Renske, additional, Lourghi, Halima, additional, Della Rocca, Maria G, additional, Thompson, Rachel, additional, Castellanos, Francisco, additional, Priest, James, additional, Cunningham-Rundles, Charlotte, additional, Hegde, Ayushi, additional, Lovering, Ruth C, additional, Hajek, Catherine, additional, Olry, Annie, additional, Notarangelo, Luigi, additional, Similuk, Morgan, additional, Zhang, Xingmin A, additional, Gómez-Andrés, David, additional, Lochmüller, Hanns, additional, Dollfus, Hélène, additional, Rosenzweig, Sergio, additional, Marwaha, Shruti, additional, Rath, Ana, additional, Sullivan, Kathleen, additional, Smith, Cynthia, additional, Milner, Joshua D, additional, Leroux, Dorothée, additional, Boerkoel, Cornelius F, additional, Klion, Amy, additional, Carter, Melody C, additional, Groza, Tudor, additional, Smedley, Damian, additional, Haendel, Melissa A, additional, Mungall, Chris, additional, and Robinson, Peter N, additional

Published
2018
Full Text
View/download PDF

35. Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Author

Gall, Timothy, primary, Valkanas, Elise, additional, Bello, Christofer, additional, Markello, Thomas, additional, Adams, Christopher, additional, Bone, William P., additional, Brandt, Alexander J., additional, Brazill, Jennifer M., additional, Carmichael, Lynn, additional, Davids, Mariska, additional, Davis, Joie, additional, Diaz-Perez, Zoraida, additional, Draper, David, additional, Elson, Jeremy, additional, Flynn, Elise D., additional, Godfrey, Rena, additional, Groden, Catherine, additional, Hsieh, Cheng-Kang, additional, Fischer, Roxanne, additional, Golas, Gretchen A., additional, Guzman, Jessica, additional, Huang, Yan, additional, Kane, Megan S., additional, Lee, Elizabeth, additional, Li, Chong, additional, Links, Amanda E., additional, Maduro, Valerie, additional, Malicdan, May Christine V., additional, Malik, Fayeza S., additional, Nehrebecky, Michele, additional, Park, Joun, additional, Pemberton, Paul, additional, Schaffer, Katherine, additional, Simeonov, Dimitre, additional, Sincan, Murat, additional, Smedley, Damian, additional, Valivullah, Zaheer, additional, Wahl, Colleen, additional, Washington, Nicole, additional, Wolfe, Lynne A., additional, Xu, Karen, additional, Zhu, Yi, additional, Gahl, William A., additional, Tifft, Cynthia J., additional, Toro, Camillo, additional, Adams, David R., additional, He, Miao, additional, Robinson, Peter N., additional, Haendel, Melissa A., additional, Zhai, R. Grace, additional, and Boerkoel, Cornelius F., additional

Published
2017
Full Text
View/download PDF

37. Research Training in the Preclinical Phases of Medical Faculties

Author

TURAN, Sevgi, SİNCAN, Murat, ELÇİN, Melih, ODABAŞI, Orhan, and SAYEK, İskender

Subjects
Araştırma eğitimi,tıp fakültesi,eğitim programı, education, Research education,medical faculty,curricula
Abstract

Objectives: Curricula of the first three (preclinical) years of the Turkish medical faculties are assesed to determine the ratio of instructional hours related to research. Material and methods: In this descriptive study, we have accessed web sites of 50 Turkish medical faculties between February 1st and April 15th 2006. Medical faculties that did not have curriculum information on their web sites were contacted through mail. Final number of participants in our study was 36. Results: The number of total instruction hours for the first three years, ranged between 2151 and 3568. Percentage of research related content ranged between 1,83% and 12,37%. We found that research related curricula mostly consisted of subjects such as “computer”, “biostatistics”, “epidemiology”. Fewer faculties’ curricula contained “library usage and documentation”, “medical informatics” “evidence based medicine” and “special study modules”. The percentage of instruction hours on epidemiology and/or research ranged between 4- 57%. We found that only 3 medical faculties had more than 20% of the total instructional time allocated for courses that are expected to help students gain competency in research methodology. Fourteen of the faculties did not have any epidemiology courses during preclinical years. Conclusions: Medical faculty curricula should be assessed and evaluated, parallel to the change in programs, in terms of helping students gain necessary knowledge and skills in scientific method and attitude., Amaç: Bu çalışmada Türkiye’deki tıp fakültelerinin klinik öncesi dönemi içeren ilk üç yıla ait eğitim programları, araştırma ve ilgili derslerin agırlıgını belirlemek amacı ile incelenmiştir. Gereç ve Yöntem: Tanımlayıcı nitelikteki çalışmada öncelikle 50 tıp fakültesinin 2005-2006 öğretim yılına ait eğitim programlarına 1 Şubat-15 Nisan 2006 tarihleri arasında web sayfalarından ulaşılmıştır. Eğitim programı bilgilerine web sayfaları üzerinden ulaşılamayan tıp fakültelerinden yazışma yolu ile bilgiler toplanmıştır. Çalışmada yer alan tıp fakültesi sayısı 36’dır. Bulgular: Çalışmada ulaşılan tıp fakültelerinin ilk üç yıl için ders saati sayısı 2151 ile 3568 arasında değişmektedir. Toplam ders saati içerisinde araştırma ve ilgili derslerin ağırlığı %1,83 ile %12,37 arasında değişmektedir. Fakültelerin programlarında bulunan araştırma ile ilgili dersler arasında bilgisayar, biyoistatistik, epidemiyoloji ve daha az sayıda fakültede olmak üzere kütüphane ve dokümantasyon, tıp bilişimi, kanıta dayalı tıp ve özel çalışma modülleri sayılabilir. Epidemiyoloji veya araştırma adı altında yer alan derslerin araştırma dersleri içerisinde ağırlığı %4-57 arasında değişmektedir. Araştırma yöntemleri ve kullanımı ile ilgili bilgi ve beceri kazandırılması beklenen bu dersin ilgili dersler içerisindeki ağırlığı sadece 3 fakültede %20 ve üzerindedir. Klinik öncesi dönemde 14 fakültede epidemiyoloji adı altında ders bulunmamaktadır. Sonuç: Tıp Fakültesi eğitim programlarının, gerçekleşen program değişimine paralel olarak, ilk yıllarda öğrencilere bilimsel yöntem tutum ve davranışları kazanmalarına yardımcı olacak şekilde yeniden gözden geçirilmesinde yarar görülmektedir.

Published
2015

38. Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Author

Lee, Elizabeth M.J., primary, Xu, Karen, additional, Mosbrook, Emma, additional, Links, Amanda, additional, Guzman, Jessica, additional, Adams, David R., additional, Flynn, Elise, additional, Valkanas, Elise, additional, Toro, Camillo, additional, Tifft, Cynthia J., additional, Boerkoel, Cornelius F., additional, Gahl, William A., additional, and Sincan, Murat, additional

Published
2016
Full Text
View/download PDF

39. Developing genomic knowledge bases and databases to support clinical management: current perspectives

Author

Huser, Vojtech, Sincan,Murat, and Cimino,James

Subjects
Pharmacogenomics and Personalized Medicine
Abstract

Vojtech Huser,1 Murat Sincan,2,3 James J Cimino1,4 1Laboratory for Informatics Development, National Institutes of Health Clinical Center, Bethesda, MD, USA; 2Undiagnosed Diseases Program, 3Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, MD, USA; 4National Library of Medicine, National Institutes of Health, MD, USA Abstract: Personalized medicine, the ability to tailor diagnostic and treatment decisions for individual patients, is seen as the evolution of modern medicine. We characterize here the informatics resources available today or envisioned in the near future that can support clinical interpretation of genomic test results. We assume a clinical sequencing scenario (germline whole-exome sequencing) in which a clinical specialist, such as an endocrinologist, needs to tailor patient management decisions within his or her specialty (targeted findings) but relies on a genetic counselor to interpret off-target incidental findings. We characterize the genomic input data and list various types of knowledge bases that provide genomic knowledge for generating clinical decision support. We highlight the need for patient-level databases with detailed lifelong phenotype content in addition to genotype data and provide a list of recommendations for personalized medicine knowledge bases and databases. We conclude that no single knowledge base can currently support all aspects of personalized recommendations and that consolidation of several current resources into larger, more dynamic and collaborative knowledge bases may offer a future path forward. Keywords: personalized medicine, knowledge bases, databases, clinical decision support, clinical informatics

Published
2014

40. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Author

Bone, William P., primary, Washington, Nicole L., additional, Buske, Orion J., additional, Adams, David R., additional, Davis, Joie, additional, Draper, David, additional, Flynn, Elise D., additional, Girdea, Marta, additional, Godfrey, Rena, additional, Golas, Gretchen, additional, Groden, Catherine, additional, Jacobsen, Julius, additional, Köhler, Sebastian, additional, Lee, Elizabeth M.J., additional, Links, Amanda E., additional, Markello, Thomas C., additional, Mungall, Christopher J., additional, Nehrebecky, Michele, additional, Robinson, Peter N., additional, Sincan, Murat, additional, Soldatos, Ariane G., additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Trang, Heather, additional, Valkanas, Elise, additional, Vasilevsky, Nicole, additional, Wahl, Colleen, additional, Wolfe, Lynne A., additional, Boerkoel, Cornelius F., additional, Brudno, Michael, additional, Haendel, Melissa A., additional, Gahl, William A., additional, and Smedley, Damian, additional

Published
2016
Full Text
View/download PDF

41. Transcriptional profiling reveals gland-specific differential expression in the three major salivary glands of the adult mouse.

Author

Xin Gao, Oei, Maria S., Ovitt, Catherine E., Sincan, Murat, and Melvin, James E.

Abstract

RNA-Seq was used to better understand the molecular nature of the biological differences among the three major exocrine salivary glands in mammals. Transcriptional profiling found that the adult murine parotid, submandibular, and sublingual salivary glands express greater than 14,300 protein-coding genes, and nearly 2,000 of these genes were differentially expressed. Principle component analysis of the differentially expressed genes revealed three distinct clusters according to gland type. The three salivary gland transcriptomes were dominated by a relatively few number of highly expressed genes (6.3%) that accounted for more than 90% of transcriptional output. Of the 912 transcription factors expressed in the major salivary glands, greater than 90% of them were detected in all three glands, while expression for ~2% of them was enriched in an individual gland. Expression of these unique transcription factors correlated with sublingual and parotid specific subsets of both highly expressed and differentially expressed genes. Gene ontology analyses revealed that the highly expressed genes common to all glands were associated with global functions, while many of the genes expressed in a single gland play a major role in the function of that gland. In summary, transcriptional profiling of the three murine major salivary glands identified a limited number of highly expressed genes, differentially expressed genes, and unique transcription factors that represent the transcriptional signatures underlying gland-specific biological properties. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

43. Developing genomic knowledge bases and databases to support clinical management: current perspectives

Author

Huser,Vojtech, Sincan,Murat, Cimino,James J, Huser,Vojtech, Sincan,Murat, and Cimino,James J

Abstract

Vojtech Huser,1 Murat Sincan,2,3 James J Cimino1,4 1Laboratory for Informatics Development, National Institutes of Health Clinical Center, Bethesda, MD, USA; 2Undiagnosed Diseases Program, 3Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, MD, USA; 4National Library of Medicine, National Institutes of Health, MD, USA Abstract: Personalized medicine, the ability to tailor diagnostic and treatment decisions for individual patients, is seen as the evolution of modern medicine. We characterize here the informatics resources available today or envisioned in the near future that can support clinical interpretation of genomic test results. We assume a clinical sequencing scenario (germline whole-exome sequencing) in which a clinical specialist, such as an endocrinologist, needs to tailor patient management decisions within his or her specialty (targeted findings) but relies on a genetic counselor to interpret off-target incidental findings. We characterize the genomic input data and list various types of knowledge bases that provide genomic knowledge for generating clinical decision support. We highlight the need for patient-level databases with detailed lifelong phenotype content in addition to genotype data and provide a list of recommendations for personalized medicine knowledge bases and databases. We conclude that no single knowledge base can currently support all aspects of personalized recommendations and that consolidation of several current resources into larger, more dynamic and collaborative knowledge bases may offer a future path forward. Keywords: personalized medicine, knowledge bases, databases, clinical decision support, clinical informatics

Published
2014

45. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Author

Adams, David R., primary, Yuan, Hongjie, additional, Holyoak, Todd, additional, Arajs, Katrina H., additional, Hakimi, Parvin, additional, Markello, Thomas C., additional, Wolfe, Lynne A., additional, Vilboux, Thierry, additional, Burton, Barbara K., additional, Fajardo, Karin Fuentes, additional, Grahame, George, additional, Holloman, Conisha, additional, Sincan, Murat, additional, Smith, Ann C.M., additional, Wells, Gordon A., additional, Huang, Yan, additional, Vega, Hugo, additional, Snyder, James P., additional, Golas, Gretchen A., additional, Tifft, Cynthia J., additional, Boerkoel, Cornelius F., additional, Hanson, Richard W., additional, Traynelis, Stephen F., additional, Kerr, Douglas S., additional, and Gahl, William A., additional

Published
2014
Full Text
View/download PDF

46. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

Author

Lawrence, Lauren, primary, Sincan, Murat, additional, Markello, Thomas, additional, Adams, David R., additional, Gill, Fred, additional, Godfrey, Rena, additional, Golas, Gretchen, additional, Groden, Catherine, additional, Landis, Dennis, additional, Nehrebecky, Michele, additional, Park, Grace, additional, Soldatos, Ariane, additional, Tifft, Cynthia, additional, Toro, Camilo, additional, Wahl, Colleen, additional, Wolfe, Lynne, additional, Gahl, William A., additional, and Boerkoel, Cornelius F., additional

Published
2014
Full Text
View/download PDF

47. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Author

Dias, Cristina, primary, McDonald, Allison, additional, Sincan, Murat, additional, Rupps, Rosemarie, additional, Markello, Thomas, additional, Salvarinova, Ramona, additional, Santos, Rui F, additional, Menghrajani, Kamal, additional, Ahaghotu, Chidi, additional, Sutherland, Darren P, additional, Fortuno, Edgardo S, additional, Kollmann, Tobias R, additional, Demos, Michelle, additional, Friedman, Jan M, additional, Speert, David P, additional, Gahl, William A, additional, and Boerkoel, Cornelius F, additional

Published
2013
Full Text
View/download PDF

48. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

Author

Markello, Thomas C., primary, Carlson-Donohoe, Hannah, additional, Sincan, Murat, additional, Adams, David, additional, Bodine, David M., additional, Farrar, Jason E., additional, Vlachos, Adrianna, additional, Lipton, Jeffrey M., additional, Auerbach, Arleen D., additional, Ostrander, Elaine A., additional, Chandrasekharappa, Settara C., additional, Boerkoel, Cornelius F., additional, and Gahl, William A., additional

Published
2012
Full Text
View/download PDF

49. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Author

Gahl, William A., primary, Markello, Thomas C., additional, Toro, Camilo, additional, Fajardo, Karin Fuentes, additional, Sincan, Murat, additional, Gill, Fred, additional, Carlson-Donohoe, Hannah, additional, Gropman, Andrea, additional, Pierson, Tyler Mark, additional, Golas, Gretchen, additional, Wolfe, Lynne, additional, Groden, Catherine, additional, Godfrey, Rena, additional, Nehrebecky, Michele, additional, Wahl, Colleen, additional, Landis, Dennis M.D., additional, Yang, Sandra, additional, Madeo, Anne, additional, Mullikin, James C., additional, Boerkoel, Cornelius F., additional, Tifft, Cynthia J., additional, and Adams, David, additional

Published
2012
Full Text
View/download PDF

50. The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases

Author

Gahl, William A., primary, Markello, Thomas C., additional, Toro, Camilo, additional, Fajardo, Karin Fuentes, additional, Sincan, Murat, additional, Gill, Fred, additional, Carlson-Donohoe, Hannah, additional, Gropman, Andrea, additional, Pierson, Tyler Mark, additional, Golas, Gretchen, additional, Wolfe, Lynne, additional, Groden, Catherine, additional, Godfrey, Rena, additional, Nehrebecky, Michele, additional, Wahl, Colleen, additional, Landis, Dennis M. D., additional, Yang, Sandra, additional, Madeo, Anne, additional, Mullikin, James C., additional, Boerkoel, Cornelius F., additional, Tifft, Cynthia J., additional, and Adams, David, additional

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results