Murat Sincan

  • 802 Citations
  • 13 h-Index
20042019

Research output per year

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Research Output

  • 802 Citations
  • 13 h-Index
  • 25 Article
  • 2 Conference contribution
  • 1 Chapter
  • 1 Review article
2019

Data-driven method to enhance craniofacial and oral phenotype vocabularies

Mishra, R., Burke, A., Gitman, B., Verma, P., Engelstad, M., Haendel, M. A., Alevizos, I., Gahl, W. A., Collins, M. T., Lee, J. S. & Sincan, M., Nov 2019, In : Journal of the American Dental Association. 150, 11, p. 933-939.e2

Research output: Contribution to journalArticle

Deep Geodesic Learning for Segmentation and Anatomical Landmarking

Torosdagli, N., Liberton, D. K., Verma, P., Sincan, M., Lee, J. S. & Bagci, U., Apr 2019, In : IEEE transactions on medical imaging. 38, 4, p. 919-931 13 p., 8490669.

Research output: Contribution to journalArticle

7 Scopus citations

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

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J. P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 others, Jansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., Jan 8 2019, In : Nucleic acids research. 47, D1, p. D1018-D1027

Research output: Contribution to journalArticle

Open Access
82 Scopus citations
2018

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism

Burke, E. A., Frucht, S. J., Thompson, K., Wolfe, L. A., Yokoyama, T., Bertoni, M., Huang, Y., Sincan, M., Adams, D. R., Taylor, R. W., Gahl, W. A., Toro, C. & Malicdan, M. C. V., Mar 2018, In : Clinical Genetics. 93, 3, p. 712-718 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

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

Gao, X., Oei, M. S., Ovitt, C. E., Sincan, M. & Melvin, J. E., Apr 2018, In : Physiological genomics. 50, 4, p. 263-271 9 p.

Research output: Contribution to journalArticle

12 Scopus citations
2017

Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The National Institutes of Health undiagnosed diseases program experience

Gall, T., Valkanas, E., Bello, C., Markello, T., Adams, C., Bone, W. P., Brandt, A. J., Brazill, J. M., Carmichael, L., Davids, M., Davis, J., Diaz-Perez, Z., Draper, D., Elson, J., Flynn, E. D., Godfrey, R., Groden, C., Hsieh, C. K., Fischer, R., Golas, G. A. & 31 others, Guzman, J., Huang, Y., Kane, M. S., Lee, E., Li, C., Links, A. E., Maduro, V., Malicdan, M. C. V., Malik, F. S., Nehrebecky, M., Park, J., Pemberton, P., Schaffer, K., Simeonov, D., Sincan, M., Smedley, D., Valivullah, Z., Wahl, C., Washington, N., Wolfe, L. A., Xu, K., Zhu, Y., Gahl, W. A., Tifft, C. J., Toro, C., Adams, D. R., He, M., Robinson, P. N., Haendel, M. A., Grace Zhai, R. & Boerkoel, C. F., 2017, In : Frontiers in Medicine. 4, MAY, 62.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Robust and fully automated segmentation of mandible from CT scans

Torosdagli, N., Liberton, D. K., Verma, P., Sincan, M., Lee, J., Pattanaik, S. & Bagci, U., Jun 15 2017, 2017 IEEE 14th International Symposium on Biomedical Imaging, ISBI 2017. IEEE Computer Society, p. 1209-1212 4 p. 7950734. (Proceedings - International Symposium on Biomedical Imaging).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

6 Scopus citations
2016

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

Bone, W. P., Washington, N. L., Buske, O. J., Adams, D. R., Davis, J., Draper, D., Flynn, E. D., Girdea, M., Godfrey, R., Golas, G., Groden, C., Jacobsen, J., Köhler, S., Lee, E. M. J., Links, A. E., Markello, T. C., Mungall, C. J., Nehrebecky, M., Robinson, P. N., Sincan, M. & 13 others, Soldatos, A. G., Tifft, C. J., Toro, C., Trang, H., Valkanas, E., Vasilevsky, N., Wahl, C., Wolfe, L. A., Boerkoel, C. F., Brudno, M., Haendel, M. A., Gahl, W. A. & Smedley, D., Jun 1 2016, In : Genetics in Medicine. 18, 6, p. 608-617 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

Distributed cognition and process management enabling individualized translational research: The NIH undiagnosed diseases program experience

Links, A. E., Draper, D., Lee, E., Guzman, J., Valivullah, Z., Maduro, V., Lebedev, V., Didenko, M., Tomlin, G., Brudno, M., Girdea, M., Dumitriu, S., Haendel, M. A., Mungall, C. J., Smedley, D., Hochheiser, H., Arnold, A. M., Coessens, B., Verhoeven, S., Bone, W. & 4 others, Adams, D., Boerkoel, C. F., Gahl, W. A. & Sincan, M., 2016, In : Frontiers in Medicine. 3, OCT, 39.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

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

Lee, E. M. J., Xu, K., Mosbrook, E., Links, A., Guzman, J., Adams, D. R., Flynn, E., Valkanas, E., Toro, C., Tifft, C. J., Boerkoel, C. F., Gahl, W. A. & Sincan, M., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1303-1307 5 p.

Research output: Contribution to journalArticle

6 Scopus citations
2014

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

Huser, V., Sincan, M. & Cimino, J. J., Sep 9 2014, In : Pharmacogenomics and Personalized Medicine. 7, p. 275-283 9 p.

Research output: Contribution to journalReview article

13 Scopus citations

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

Lawrence, L., Sincan, M., Markello, T., Adams, D. R., Gill, F., Godfrey, R., Golas, G., Groden, C., Landis, D., Nehrebecky, M., Park, G., Soldatos, A., Tifft, C., Toro, C., Wahl, C., Wolfe, L., Gahl, W. A. & Boerkoel, C. F., Oct 21 2014, In : Genetics in Medicine. 16, 10, p. 741-750 10 p.

Research output: Contribution to journalArticle

40 Scopus citations

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

Adams, D. R., Yuan, H., Holyoak, T., Arajs, K. H., Hakimi, P., Markello, T. C., Wolfe, L. A., Vilboux, T., Burton, B. K., Fajardo, K. F., Grahame, G., Holloman, C., Sincan, M., Smith, A. C. M., Wells, G. A., Huang, Y., Vega, H., Snyder, J. P., Golas, G. A., Tifft, C. J. & 5 others, Boerkoel, C. F., Hanson, R. W., Traynelis, S. F., Kerr, D. S. & Gahl, W. A., Nov 1 2014, In : Molecular Genetics and Metabolism. 113, 3, p. 161-170 10 p.

Research output: Contribution to journalArticle

28 Scopus citations
2013

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease

Gunay-Aygun, M., Font-Montgomery, E., Lukose, L., Tuchman Gerstein, M., Piwnica-Worms, K., Choyke, P., Daryanani, K. T., Turkbey, B., Fischer, R., Bernardini, I., Sincan, M., Zhao, X., Sandler, N. G., Roque, A., Douek, D. C., Graf, J., Huizing, M., Bryant, J. C., Mohan, P., Gahl, W. A. & 1 others, Heller, T., Jan 2013, In : Gastroenterology. 144, 1, p. 112-121.e2

Research output: Contribution to journalArticle

77 Scopus citations

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)

Pierson, T. M., Markello, T., Accardi, J., Wolfe, L., Adams, D., Sincan, M., Tarazi, N. M., Fajardo, K. F., Cherukuri, P. F., Bajraktari, I., Meilleur, K. G., Donkervoort, S., Jain, M., Hu, Y., Lehky, T. J., Cruz, P., Mullikin, J. C., Bonnemann, C., Gahl, W. A., Boerkoel, C. F. & 1 others, Tifft, C. J., Jun 2013, In : Neuromuscular Disorders. 23, 6, p. 483-488 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

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

Dias, C., McDonald, A., Sincan, M., Rupps, R., Markello, T., Salvarinova, R., Santos, R. F., Menghrajani, K., Ahaghotu, C., Sutherland, D. P., Fortuno, E. S., Kollmann, T. R., Demos, M., Friedman, J. M., Speert, D. P., Gahl, W. A. & Boerkoel, C. F., Nov 2013, In : European Journal of Human Genetics. 21, 11, p. 1232-1239 8 p.

Research output: Contribution to journalArticle

11 Scopus citations
2012

Analysis of DNA sequence variants detected by high-throughput sequencing

Adams, D. R., Sincan, M., Fuentes Fajardo, K., Mullikin, J. C., Pierson, T. M., Toro, C., Boerkoel, C. F., Tifft, C. J., Gahl, W. A. & Markello, T. C., Apr 2012, In : Human mutation. 33, 4, p. 599-608 10 p.

Research output: Contribution to journalArticle

27 Scopus citations

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Dias, C., Sincan, M., Cherukuri, P. F., Rupps, R., Huang, Y., Briemberg, H., Selby, K., Mullikin, J. C., Markello, T. C., Adams, D. R., Gahl, W. A. & Boerkoel, C. F., Apr 2012, In : Human mutation. 33, 4, p. 614-626 13 p.

Research output: Contribution to journalArticle

26 Scopus citations

Detecting false-positive signals in exome sequencing

Fuentes Fajardo, K. V., Adams, D., Mason, C. E., Sincan, M., Tifft, C., Toro, C., Boerkoel, C. F., Gahl, W. & Markello, T., Apr 2012, In : Human mutation. 33, 4, p. 609-613 5 p.

Research output: Contribution to journalArticle

92 Scopus citations

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Pierson, T. M., Simeonov, D. R., Sincan, M., Adams, D. A., Markello, T., Golas, G., Fuentes-Fajardo, K., Hansen, N. F., Cherukuri, P. F., Cruz, P., Mullikin, J. C., Blackstone, C., Tifft, C., Boerkoel, C. F. & Gahl, W. A., Apr 2012, In : European Journal of Human Genetics. 20, 4, p. 476-479 4 p.

Research output: Contribution to journalArticle

46 Scopus citations

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Pierson, T. M., Adams, D. A., Markello, T., Golas, G., Yang, S., Sincan, M., Simeonov, D. R., Fajardo, K. F., Hansen, N. F., Cherukuri, P. F., Cruz, P., Teer, J. K., Mullikin, J. C., Boerkoel, C. F., Gahl, W. A. & Tifft, C. J., Jul 10 2012, In : Neurology. 79, 2, p. 123-126 4 p.

Research output: Contribution to journalArticle

21 Scopus citations

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

Markello, T. C., Carlson-Donohoe, H., Sincan, M., Adams, D., Bodine, D. M., Farrar, J. E., Vlachos, A., Lipton, J. M., Auerbach, A. D., Ostrander, E. A., Chandrasekharappa, S. C., Boerkoel, C. F. & Gahl, W. A., Apr 2012, In : Molecular Genetics and Metabolism. 105, 4, p. 665-671 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

The national institutes of health undiagnosed diseases program: Insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., Wolfe, L., Groden, C., Godfrey, R., Nehrebecky, M., Wahl, C., Landis, D. M. D., Yang, S., Madeo, A., Mullikin, J. C., Boerkoel, C. F. & 2 others, Tifft, C. J. & Adams, D., Jan 1 2012, In : Genetics in Medicine. 14, 1, p. 51-59 9 p.

Research output: Contribution to journalArticle

175 Scopus citations

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

Sincan, M., Simeonov, D. R., Adams, D., Markello, T. C., Pierson, T. M., Toro, C., Gahl, W. A. & Boerkoel, C. F., Apr 2012, In : Human mutation. 33, 4, p. 593-598 6 p.

Research output: Contribution to journalArticle

22 Scopus citations
2011

Personalized genomic medicine: Lessons from the exome

Solomon, B. D., Pineda-Alvarez, D. E., Hadley, D. W., Teer, J. K., Cherukuri, P. F., Hansen, N. F., Cruz, P., Young, A. C., Blakesley, R. W., Lanpher, B., Mayfield Gibson, S., Sincan, M., Chandrasekharappa, S. C. & Mullikin, J. C., Sep 1 2011, In : Molecular Genetics and Metabolism. 104, 1-2, p. 189-191 3 p.

Research output: Contribution to journalArticle

14 Scopus citations
2009

International co-teaching of medical informatics for training-the-trainers in content and distance education

Lewis, K. O. & Sincan, M., Aug 2009, In : Journal of Asynchronous Learning Network. 13, 2, p. 33-47 15 p.

Research output: Contribution to journalArticle

3 Scopus citations

Process-based evaluation of hospital information systems: Application of an information systems success model (PRISE) in the healthcare domain

Ozkan, S., Baykal, N. & Sincan, M., 2009, Handbook of Research on Advances in Health Informatics and Electronic Healthcare Applications: Global Adoption and Impact of Information Communication Technologies. IGI Global, p. 74-90 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2008

Assessing hospital information systems processes: A validation of prise information systems success model in healthcare

Ozkan, S., Baykal, N. & Sincan, M., 2008, 14th Americas Conference on Information Systems, AMCIS 2008. p. 3956-3967 12 p. (14th Americas Conference on Information Systems, AMCIS 2008; vol. 6).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

3 Scopus citations
2004

Effects of Lossy Image Compression on Quantitative Image Analysis of Cell Nuclei

Atalaǧ, K., Sincan, M., Celasun, B. & Karaaǧaoǧlu, E., Feb 2004, In : Analytical and Quantitative Cytology and Histology. 26, 1, p. 22-27 6 p.

Research output: Contribution to journalArticle

4 Scopus citations