M. Sincan

发表

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

Statement on Reporting of Evaluation Studies in Health Informatics

Christian Nøhr, Elske Ammenwerth, Johanna I. Westbrook, 2007 .

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

Damian Smedley, Michael Brudno, Julius O. B. Jacobsen, 2015, Genetics in Medicine.

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

D. Smedley, C. Mungall, M. Brudno, 2016, Front. Med..

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

Yan Huang, Murat Sincan, William A Gahl, 2012, Human mutation.

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

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

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)

K. F. Fajardo, J. Mullikin, M. Sincan, 2013, Neuromuscular Disorders.

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

M. Sincan, C. Boerkoel, W. Gahl, 2013, European Journal of Human Genetics.

Data-driven method to enhance craniofacial and oral phenotype vocabularies.

M. Haendel, M. Sincan, W. Gahl, 2019, Journal of the American Dental Association.

Deep Geodesic Learning for Segmentation and Anatomical Landmarking

Ulas Bagci, Murat Sincan, Payal Verma, 2018, IEEE Transactions on Medical Imaging.

The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program’s Experience Developing Custom Software to Support Research for Complex-Disease Families

D. Adams, M. Sincan, W. Gahl, 2015, Children.

Detecting false‐positive signals in exome sequencing

Murat Sincan, David Adams, Christopher E Mason, 2012, Human mutation.

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

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..

Personalized genomic medicine: lessons from the exome.

Nancy F. Hansen, J. Mullikin, N. Hansen, 2011, Molecular genetics and metabolism.

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

M. Sincan, J. E. Melvin, C. Ovitt, 2018, Physiological genomics.

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

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

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

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

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

Murat Sincan, William A Gahl, David Adams, 2012, Human mutation.

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

Rena A. Godfrey, Colleen E. Wahl, D. Adams, 2014, Genetics in Medicine.

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

Vojtech Huser, Murat Sincan, James J Cimino, 2014, Pharmacogenomics and personalized medicine.

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

Murat Sincan, William A Gahl, David Adams, 2012, Molecular genetics and metabolism.

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

D. Adams, M. Sincan, C. Boerkoel, 2016, Genetics in Medicine.

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

Y. Huang, D. Adams, M. Sincan, 2018, Clinical genetics.

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

P. Choyke, D. Douek, M. Sincan, 2013, Gastroenterology.

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

Nancy F. Hansen, J. Mullikin, N. Hansen, 2012, Neurology.

Kan›ta Dayal› T›p ve T›p Kütüphanecilii Evidence Based Medicine and Medical Librarianship

M. Sincan, 2003 .

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

Murat Sincan, Nancy F. Hansen, William A Gahl, 2011, European Journal of Human Genetics.

Relational Reasoning Network (RRN) for Anatomical Landmarking

U. Bagci, M. Sincan, D. Liberton, 2019, ArXiv.

Robust and fully automated segmentation of mandible from CT scans

Ulas Bagci, Sumanta N. Pattanaik, Murat Sincan, 2017, 2017 IEEE 14th International Symposium on Biomedical Imaging (ISBI 2017).

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

Lynn K. Carmichael, Philip H. Schroeder, David E. Condon, 2023, medRxiv.

Standardizing Research Common Data Elements: Initiatives, Exchange Formats and Current Use by Patient-Level Trial Results Databases

Vojtech Huser, Murat Sincan, Dikla Shmueli-Blumberg, 2016, American Medical Informatics Association Annual Symposium.

INTERNATIONAL CO-TEACHING OF MEDICAL INFORMATICS FOR TRAINING-THE-TRAINERS IN CONTENT AND DISTANCE EDUCATION

Murat Sincan, Kadriye O. Lewis, Kadriye O. Lewis, 2019, Online Learning.

Practical use of common data elements in a metadata-driven clinical trial management system

Murat Sincan, Mark McDonald, Tammy Yokum, 2016, American Medical Informatics Association Annual Symposium.

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

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Systematic Identification and Definition of Consistently Well-Characterized Protein-Coding Exons Using Next Generation Sequencing Technology

K. F. Fajardo, M. Sincan, C. Boerkoel, 2013 .

Process-Based Evaluation of Hospital Information Systems: Application of an Information System Success Model (PRISE) in the Healthcare Domain

Nazife Baykal, Murat Sincan, Sevgi Ozkan, 2010 .

Evaluation of a Hospital Information System in an International Context: Towards Implementing PB‐ISM in Turkey

Sevgi Özkan, Nazife Baykal, Murat Sincan, 2006, Electron. J. Inf. Syst. Dev. Ctries..