Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Cited by (773)

Items 701–773 of 773

1. Question 4 A user wishes to find all the single nucleotide polymorphisms that lie between two sequence-tagged sites. Do any of these single nucleotide polymorphisms fall within the coding region of a gene? Where can any additional information about the function of these genes be found?
   2002 · Nature Genetics
2. Question 7 How would an investigator easily find compiled information describing the structure of a gene of interest? Is it possible to obtain the sequence of any putative promoter regions?
   2002 · Nature Genetics
3. Systematic Design and Evaluation of Drug Repurposing-Oriented Alzheimer’s Disease Ontology (Preprint)
   Fang Li, Muhammad “Tuan” Amith, Grace Y Xiong, Jingcheng Du, Yang Xiang, Guozheng Rao, Huy Anh Pham, Cui Tao · 2020
4. Candidate Gene Predictions: Bioinformatics Significance in Linkage Analysis
   2015 · International Journal of Science and Research (IJSR)
5. Congenital Malformations and Developmental Changes of the Breast: A Dysmorphological View
   Paul Merlob · 2018 · Springer eBooks
6. Faculty Opinions recommendation of A genetics-led approach defines the drug target landscape of 30 immune-related traits.
   Aaron Day-Williams · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
7. Big Medical Text Analytics: querying, searching and understanding clinical data
   Roberto Costumero Moreno · 2017
8. Peer Review #1 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.1)"
   2019 · PeerJ
9. Question 2 How can sequence-tagged sites within a DNA sequence be identified?
   2003 · Nature Genetics
10. Peer Review #2 of "Can 9q34.2 rs633862 polymorphism predict survival in epithelial ovarian cancer? (v0.1)"
    2017 · PeerJ
11. Peer Review #1 of "Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants (v0.2)"
    2019 · PeerJ
12. Question 11 An investigator has identified and cloned a human gene, but no corresponding mouse ortholog has yet been identified. How can a mouse genomic sequence with similarity to the human gene sequence be retrieved?
    2003 · Nature Genetics
13. Question 4 A user wishes to find all the single nucleotide polymorphisms that lie between two sequence-tagged sites. Do any of these single nucleotide polymorphisms fall within the coding region of a gene? Where can any additional information about the function of these genes be found?
    2003 · Nature Genetics
14. Faculty Opinions recommendation of Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
    Isabelle Meyts, Giorgia Bucciol · 2020 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
15. Question 11 An investigator has identified and cloned a human gene, but no corresponding mouse ortholog has yet been identified. How can a mouse genomic sequence with similarity to the human gene sequence be retrieved?
    2002 · Nature Genetics
16. Question 2 How can sequence-tagged sites within a DNA sequence be identified?
    2002 · Nature Genetics
17. Based on Bioinformatics Methods to Explore the Molecular Markers of the Effect of Traditional Chinese Medicine on Colorectal Cancer
    Mo Tang, Lihao Gao, Bin He, Yufei Yang · 2022 · SSRN Electronic Journal
18. Network Pharmacology-Based Exploration of the Mechanism of Action of Shugan Hewei Recipe in the Treatment of Gastroesophageal Reflux Disease with Anxiety and Depression
    Tingting Xu, Chunfang Liu, Xiulian Zhang, Lin Geng, Hongwei Wang, Li Li, Zhu Sheng-liang · 2022 · Evidence-based Complementary and Alternative Medicine
19. Nanoinformatics approaches for information extraction and text mining in nanomedical research texts
    Diana de la Iglesia Jimenez · 2014
20. Health-related quality of life and family well-being in pediatric patients with genetic conditions and their families: a scoping review protocol
    Hadley Stevens Smith, Janel Hanmer · 2022 · Research Square
21. Model organisms for functional validation in genetic renal disease
    Susanne Boettcher, Matias Simons · 2022 · Medizinische Genetik
22. A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes
    Ksenia G. Kuznetsova, Jakub Vašíček, Dafni Skiadopoulou, Janne Molnes, Miriam S. Udler, Stefan Johansson, Pål R. Njølstad, Alisa Knodle Manning, Marc Vaudel · 2023 · Research Square
23. An Integrated Pipeline for Trio‐Rapid Genome Sequencing in Critically Ill Infants
    Xiao Qin Wang, Mingyu Gan, Xinran Dong, Yulan Lu, Wenhao Zhou · 2023 · Current Protocols
24. Supplementary Methods, Tables 1-2, Figures 1-2 from A Novel Method of Transcriptional Response Analysis to Facilitate Drug Repositioning for Cancer Therapy
    Guangxu Jin, Changhe Fu, Hong Zhao, Kemi Cui, Jenny C. Chang, Stephen T. C. Wong · 2023
25. Supplementary Methods, Tables 1-2, Figures 1-2 from A Novel Method of Transcriptional Response Analysis to Facilitate Drug Repositioning for Cancer Therapy
    Guangxu Jin, Changhe Fu, Hong Zhao, Kemi Cui, Jenny C. Chang, Stephen T. C. Wong · 2023
26. Graph Neural Networks to Identify Genetic Modifiers of Rare Complex Inheritable Diseases
    Eliatan Niktab · 2023 · Open Access Victoria University of Wellington | Te Herenga Waka (Figshare)
27. Edge-based Method for Phenotype Similarity: Enhancing Genetic Disease Diagnosis through Graph-based Representation and Analysis
    Yiteng Xu, Xiong Xu, Rui Xiao · 2023 · Research Square
28. Recurrent metabolic acidosis: is it by chance?
    Aleena Naushad, Sudha Krishnanunni, Manjula Anand, Divia Pachat, Smilu Mohanlal · 2023 · International Journal of Contemporary Pediatrics
29. A Genomic Study of the Japanese Population Focusing on the Glucocorticoid Receptor Interactome Highlights Distinct Genetic Characteristics Associated with Stress Response
    Τhanasis Mitsis, Louis Papageorgiou, Eleni Papakonstantinou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Flora Bacopoulou, Tomoshige Kino, George Panagiotis Chrousos, Elias Eliopoulos et al. · 2023 · Advances in experimental medicine and biology
30. Drug-Protein Interaction Prediction via Multi-View Variational Autoencoder and Cascade Deep Forests
    LiangyongXia, Yu Xuan Wu, Longfei Zhao, Leying Chen, Shiyi Zhang, Mengdi Wang, Jie Luo · 2023 · Research Square
31. Herb-CMap: Novel Hot Diffusion Algorithm to Identify Bioactive Ingredients from Herbal Medicine Based on Gene Perturbation Profiling
    Yinyin Wang, Yihang Sui, Jiaqi Yao, Hong Jiang, Qimeng Tian, Yun Tang, Jing Ping Tang, Ning‐Hua Tan · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
32. Network pharmacology-based prediction for therapeutic mechanism of FuYueKang Lotion on acute eczema
    Xiaowen Wen, Shaokang Cui, Minzhi Li, Yongping Zheng, Haoyou Xu · 2023 · Journal of Pharmaceutical and Biopharmaceutical Research
33. Big Data Application in Herbal Medicine: The Need for a Consolidated Database
    Christiana Eleojo Aruwa, Saheed Sabiu · 2023 · Reference series in phytochemistry
34. A SOUTH INDIAN CASE OF KOHLSCHUTTER-TONZ SYNDROME(KTS) WITH SPEECH ABNORMALITY
    Billa Vikas, Sravyasri Mukthavaram, Sunil Kumar Kasuvojvala, Venu Ettaveni · 2023 · Journal of Population Therapeutics and Clinical Pharmacology
35. Network pharmacological study on the potential mechanism of Jiawei Du Huo Parasitic Decoction for treating lumbar Intervertebral disc degeneration
    Buyuan-Tang, Cahnghuai-Lu · 2024 · Research Square
36. Simsuog: A Graph-Based Semantic Measure for Prenatal Phenotype Similarity During Pregnancy Ultrasound
    Mirna El Ghosh, Lucrezia Viola De Braud, Fethi Ghazouani, Paul Maurice, Loriane Franchinard, Barbara Dias, Elise Akan, Nicolas Raix, Jean Charlet, D. Jurkovic et al. · 2024 · SSRN Electronic Journal
37. Additional file 3 of Network pharmacology analysis reveals neuroprotection of Gynostemma pentaphyllum (Thunb.) Makino in Alzheimer’ disease
    Jiahao Wang, Jiamiao Shi, Ning Jia, Qinru Sun · 2022 · Figshare
38. Additional file 2 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Jie Yuan, Yi, Ji, Meixiao Zhan, Qingqing Xie, Ting Ting Zhen, Jian Zhou, Zeqing Li, Li Zhou · 2021 · Figshare
39. Additional file 5 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Jie Yuan, Yi, Ji, Meixiao Zhan, Qingqing Xie, Ting Ting Zhen, Jian Zhou, Zeqing Li, Li Zhou · 2021 · Figshare
40. Additional file 1 of Network pharmacology analysis reveals neuroprotection of Gynostemma pentaphyllum (Thunb.) Makino in Alzheimer’ disease
    Jiahao Wang, Jiamiao Shi, Ning Jia, Qinru Sun · 2022 · Figshare
41. Additional file 6 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Jie Yuan, Yi, Ji, Meixiao Zhan, Qingqing Xie, Ting Ting Zhen, Jian Zhou, Zeqing Li, Li Zhou · 2021 · Figshare
42. Additional file 5 of Network pharmacology analysis reveals neuroprotection of Gynostemma pentaphyllum (Thunb.) Makino in Alzheimer’ disease
    Jiahao Wang, Jiamiao Shi, Ning Jia, Qinru Sun · 2022 · Figshare
43. Additional file 2 of Network pharmacology analysis reveals neuroprotection of Gynostemma pentaphyllum (Thunb.) Makino in Alzheimer’ disease
    Jiahao Wang, Jiamiao Shi, Ning Jia, Qinru Sun · 2022 · Figshare
44. Additional file 4 of Network pharmacology analysis reveals neuroprotection of Gynostemma pentaphyllum (Thunb.) Makino in Alzheimer’ disease
    Jiahao Wang, Jiamiao Shi, Ning Jia, Qinru Sun · 2022 · Figshare
45. Additional file 3 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Jie Yuan, Yi, Ji, Meixiao Zhan, Qingqing Xie, Ting Ting Zhen, Jian Zhou, Zeqing Li, Li Zhou · 2021 · Figshare
46. Additional file 4 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Jie Yuan, Yi, Ji, Meixiao Zhan, Qingqing Xie, Ting Ting Zhen, Jian Zhou, Zeqing Li, Li Zhou · 2021 · Figshare
47. DALSO: domain ALS ontology
    T. Podsiadły-Marczykowska, Peter Munch Andersen, Marta Gromicho, Julian Großkreutz, Magdalena Kuźma‐Kozakiewicz, Susanne Petri, Katarzyna Szacka, Hilmi Uysal, Mamede A. de Carvalho, Maria Piotrkiewicz · 2024 · medRxiv
48. GVAF: generalized, flexible filtering software for annotated variant files
    Sora Kim, Sungwon Jung · 2024 · Genes & Genomics
49. Eriobotrya Japonica Leaf Extract Inhibits the Metastasis of Lung Cancer Through Pi3k/Akt Signaling Pathway by Modulating Tgfbr3
    Tian Luo, Yuanyuan Wu, Xin Deng, Fei Xu, Lian Zou, Xiaofang Ding, Sisi Wang, Nuoya Ma, Guoying Zou · 2024 · SSRN Electronic Journal
50. Genetic Defects Associated with SCID and Their Impact on Lymphocyte Development
    Nagaja Capitani, Cosima T. Baldari · 2024 · Rare diseases of the immune system
51. Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase
    Feda E. Mohamed, Lara Alzyoud, Mohammad A. Ghattas, Mohammed Tabouni, André Fienemann, Joanne Trinh, Ibrahim Baydoun, Praseetha Kizhakkedath, Hiba Alblooshi, Qudsia Shaukat et al. · 2025 · International Journal of Molecular Sciences
52. Genetics for dermatologists. Part 1: Fundamental concepts of structure, function, and clinical application
    Divya Gupta, Tim George Jose, Gurudatta Baraka Vishwanathan · 2025 · Indian Journal of Dermatology Venereology and Leprology
53. Akçaağaç Şurubu İdrar Hastalığında Tıbbi Beslenme Tedavisi ve Besin Destekleri
    Evla Demircioğlu, İndrani Kalkan · 2025 · İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi
54. Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome
    Justin S. Yun, Marcus H. Yamamoto, Alejandro I. Marin, Carla Sargiotto, Daniela N. Schweitzer, Irena Tsui · 2025 · Ophthalmic surgery, lasers & imaging retina
55. Additional file 1 of The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity
    Yuan, Jie, Yi, Ji, Zhan, Meixiao, Xie, Qingqing, Ting Ting Zhen, Zhou, Jian, Li, Zeqing, Li, Zhou · 2021 · Figshare
56. Across preclinical and clinical platforms, approved and investigational psychiatric drugs share pathways and associate with similar molecular functions
    Emily Su, Nico Matthew S. Valencia, Jarod Le, Emily C. Liu, Jennifer L. Wilson · 2026 · Frontiers in Drug Discovery
57. Mechanism by which Qingre Lishi formula regulates Behçet’s disease through gut microbiota-derived metabolites
    Yannan Xia, Shuhui Du, Ming Li, Mingze Wu, Chuanbing Huang · 2026 · Artificial Cells Nanomedicine and Biotechnology
58. COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts
    Antoine Favier, Stefania Chounta, Alejandro Garcia, Fabienne Jabot‐Hanin, Xiaoyi Chen, Nicolas Garcelon, Anita Burgun, Manuel Higueras, Agathe Guilloux, Alexandre Benmerah et al. · 2026 · Genome Medicine
59. LREL: An Adaptive Weighted Logistic Regression-Based Ensemble Learning for Computational Drug Repositioning
    Mengyao Xiao, Huiru Li, Jiajun Chen, Mengyun Yang · 2025 · International Conference on Big Data and Data Mining (BDDM)
60. A Graph Neural Network Framework with Equivariance and Heterogeneity for Drug Repositioning
    Xinhua Jia, Yuchen Zhang · 2026 · Interdisciplinary Sciences Computational Life Sciences
61. Analyse systématique des motifs répétés en tandem dans les séquences protéiques.
    Julien Jorda · 2010 · theses.fr (ABES)
62. Applications of proteochemometrics (PCM) : from species extrapolation to cell-line sensitivity modelling
    Isidro Cortés‐Ciriano · 2015 · theses.fr (ABES)
63. Interactions gène-gène et gène-environnement dans les études génétiques de maladies multifactorielles : application à l’asthme et l’atopie
    Pierre‐Emmanuel Sugier · 2018 · theses.fr (ABES)
64. Exploration of interaction between common and rare variants in genetic susceptibility to holoprosencephaly
    Artem Kim · 2020 · theses.fr (ABES)
65. Integrated Network Pharmacology, Molecular Docking, and Experimental Validation Elucidating the Therapeutic Mechanism of Idesia polycarpa Crude Oil in Aluminum Chloride‐Induced Alzheimer's Rat Models
    Weijie Chang, Yaobing Chen, Jianquan Kan, Xiufang Huang, Kai Luo · 2026 · Food Science & Nutrition
66. TomAP-MS: an improved tomato lectin affinity purification-based mass spectrometry workflow enabling ultra-deep plasma proteomics
    Yusei Okuda, Hiromasa Mitsui, Ryo Konno, Daisuke Nakajima, Naho Ueyama, Osamu Ohara, Yusuke Kawashima · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
67. Clinical outcomes of a genomic newborn screening study in Qingdao, China
    Songchang Chen, Hui Huang, Yanping Chen, Peina Du, Xiaohong Wang, Jinglan Zhang, Xu Chen, Qinmei Fu, Jingyu Zhao, Dongna Chen et al. · 2026 · Nature Health
68. Computational Strategies for Discovering Inhibitors Targeting Therapeutic Enzymes
    Anand Kumar Pandey · 2026 · Methods in molecular biology
69. Hyperbolic graph contrastive learning for drug repositioning over heterogeneous biological networks
    Pengli Lu, Yu Ge, Shengfang Wan, Erjia Peng, Jun Zhang, Zhiwei Yang · 2026 · Computational Biology and Chemistry
70. Gene therapy for non-obstructive azoospermia: therapeutic avenues and translational pathway to clinical application
    Man-Xi Jiang, Tao Jing, Huai L. Feng, Yan Zhu · 2026 · Frontiers in Genome Editing
71. FAIRsharing record for: Radiology Gamuts Ontology
    FAIRsharing Team, Allyson Lister · 2018 · FAIRsharing.org
72. Dissemination and visualisation of biological data
    Bernat Gel Moreno · 2014
73. Genetic association analysis of complex diseases through information theoretic metrics and linear pleiotropy
    Helena Brunel Montaner · 2013