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2025	A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction Scientific Reports Shrinithi Natarajan, Niveditha Kundapuram, Nisarga Bhaskar, Sai Sailaja Policharla, Bhaskarjyoti Das
2025	Artificial Intelligence System for Diagnosing Rare Diseases: Design Principles and Clinical Validation Results Siberian Journal of Clinical and Experimental Medicine B. A. Kobrinskii, N. A. Blagosklonov
2024	Studies in Computational Intelligence Nikolay A. Blagosklonov, Boris A. Kobrinskii
2024	Do Hospitals Satisfy Our Healthcare Information Needs for Rare Diseases?: Comparison of Healthcare Information Provided by Hospitals with Information Needs of Family Caregivers Health Communication Ting Wang, Brady Lund, Mirah Dow
2024	Transition database for rare diseases and its use for clinical documentation Health Informatics Journal Michele Zoch, Christian Gierschner, Richard Gebler, Liz A Leutner, Tanita Kretschmer, Adrian Danker, Min Ae Lee-Kirsch, Reinhard Berner, Martin Sedlmayr
2023	Lecture Notes in Networks and Systems Boris A. Kobrinskii, Nikolay A. Blagosklonov, Valeriya V. Gribova, Elena A. Shalfeeva
2023	Meta Learning With Medical Imaging and Health Informatics Applications Xiaomeng Li, Lequan Yu, Yueming Jin, Chi-Wing Fu, Lei Xing, Pheng-Ann Heng
2023	The Impact of Artificial Intelligence in the Odyssey of Rare Diseases Biomedicines Anna Visibelli, Bianca Roncaglia, Ottavia Spiga, Annalisa Santucci
2022	Efficacy of virtual and asynchronous teaching of computer‐assisted diagnosis of genetic diseases seen in clinics American Journal of Medical Genetics Part A Mary Grace Hash, Philip D. Walker, Heather E. Laferriere, Leeanna Melton, Lauren S. Heller, John A. Phillips
2022	Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities PET Clinics Navid Hasani, Faraz Farhadi, Michael A. Morris, Moozhan Nikpanah, Arman Rahmim, Yanji Xu, Anne Pariser, Michael T. Collins, Ronald M. Summers, Elizabeth Jones, Eliot Siegel, Babak Saboury
2021	Rare diseases and the Orphanet Neurologie pro praxi Gabriela Hrčková
2021	Lecture Notes in Computer Science Nikolay Blagosklonov, Valeriya Gribova, Boris Kobrinskii, Elena Shalfeeva
2021	Assessing the utility of a differential diagnostic generator in UK general practice: a feasibility study Diagnosis Sudeh Cheraghi-Sohi, Rahul Alam, Mark Hann, Aneez Esmail, Stephen Campbell, Nicholas Riches
2021	Expert system for the diagnosis of hereditary metabolic diseases accompanied by mental disorders in children Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) B. A. Kobrinskiy, N. A. Blagosklonov, N. S. Demikova
2020	Diagnosis support systems for rare diseases: a scoping review Orphanet Journal of Rare Diseases Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
2020	Differential diagnosis of hereditary metabolic diseases using the expert knowledge-based system The Siberian Journal of Clinical and Experimental Medicine N. A. Blagosklonov, B. A. Kobrinskii
2019	Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study Orphanet Journal of Rare Diseases Simon Ronicke, Martin C. Hirsch, Ewelina Türk, Katharina Larionov, Daphne Tientcheu, Annette D. Wagner
2018	E-santé : gadget ou réel espoir ? Les Cahiers de Myologie Sylvie Marion, Sandrine Segovia-Kueny
2018	The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders American Journal of Medical Genetics Part A Raoul R. Wadhwa, Deborah Y. Park, Marvin R. Natowicz
2018	Disease and economic burden for rare diseases in Taiwan: A longitudinal study using Taiwan’s National Health Insurance Research Database PLOS ONE Jason C. Hsu, Huai-Chueh Wu, Wen-Chia Feng, Chih-Ho Chou, Edward Chia-Cheng Lai, Christine Y. Lu
2018	RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis Frontiers in Genetics Jinmeng Jia, Ruiyuan Wang, Zhongxin An, Yongli Guo, Xi Ni, Tieliu Shi
2017	Rare Disease Discovery: An Optimized Disease Ranking System IEEE Transactions on Industrial Informatics Marc Pinol, Rui Alves, Ivan Teixido, Jordi Mateo, Francesc Solsona, Ester Vilaprinyo