| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 670 | 2019 |
| The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in Medicine 14 (1), 51-59, 2012 | 308 | 2012 |
| Detecting false‐positive signals in exome sequencing KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ... Human mutation 33 (4), 609-613, 2012 | 191 | 2012 |
| Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease M Gunay–Aygun, E Font–Montgomery, L Lukose, MT Gerstein, ... Gastroenterology 144 (1), 112-121. e2, 2013 | 176 | 2013 |
| Deep geodesic learning for segmentation and anatomical landmarking N Torosdagli, DK Liberton, P Verma, M Sincan, JS Lee, U Bagci IEEE transactions on medical imaging 38 (4), 919-931, 2018 | 121 | 2018 |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 100 | 2016 |
| The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience L Lawrence, M Sincan, T Markello, DR Adams, F Gill, R Godfrey, G Golas, ... Genetics in Medicine 16 (10), 741-750, 2014 | 75 | 2014 |
| Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity DR Adams, H Yuan, T Holyoak, KH Arajs, P Hakimi, TC Markello, ... Molecular genetics and metabolism 113 (3), 161-170, 2014 | 71 | 2014 |
| Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration TM Pierson, DR Simeonov, M Sincan, DA Adams, T Markello, G Golas, ... European journal of human genetics 20 (4), 476-479, 2012 | 63 | 2012 |
| Analysis of DNA sequence variants detected by high‐throughput sequencing DR Adams, M Sincan, K Fuentes Fajardo, JC Mullikin, TM Pierson, C Toro, ... Human mutation 33 (4), 599-608, 2012 | 43 | 2012 |
| Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis TM Pierson, DA Adams, T Markello, G Golas, S Yang, M Sincan, ... Neurology 79 (2), 123-126, 2012 | 41 | 2012 |
| An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia C Dias, M Sincan, PF Cherukuri, R Rupps, Y Huang, H Briemberg, ... Human mutation 33 (4), 614-626, 2012 | 40 | 2012 |
| Robust and fully automated segmentation of mandible from CT scans N Torosdagli, DK Liberton, P Verma, M Sincan, J Lee, S Pattanaik, ... 2017 IEEE 14th International Symposium on Biomedical Imaging (ISBI 2017 …, 2017 | 39 | 2017 |
| Developing genomic knowledge bases and databases to support clinical management: current perspectives V Huser, M Sincan, JJ Cimino Pharmacogenomics and personalized medicine, 275-283, 2014 | 39 | 2014 |
| Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism EA Burke, SJ Frucht, K Thompson, LA Wolfe, T Yokoyama, M Bertoni, ... Clinical genetics 93 (3), 712-718, 2018 | 38 | 2018 |
| Transcriptional profiling reveals gland-specific differential expression in the three major salivary glands of the adult mouse X Gao, MS Oei, CE Ovitt, M Sincan, JE Melvin Physiological genomics 50 (4), 263-271, 2018 | 36 | 2018 |
| Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ... Frontiers in medicine 4, 62, 2017 | 36 | 2017 |
| VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance M Sincan, DR Simeonov, D Adams, TC Markello, TM Pierson, C Toro, ... Human mutation 33 (4), 593-598, 2012 | 30 | 2012 |
| 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) TM Pierson, T Markello, J Accardi, L Wolfe, D Adams, M Sincan, ... Neuromuscular Disorders 23 (6), 483-488, 2013 | 29 | 2013 |
| Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function TC Markello, H Carlson-Donohoe, M Sincan, D Adams, DM Bodine, ... Molecular genetics and metabolism 105 (4), 665-671, 2012 | 27 | 2012 |
Cornelius BoerkoelUniversity of British ColumbiaVerified email at cfri.ca
