The Human Gene Mutation Database: 2008 update

Cited by (873)

Items 701–800 of 873

1. KvDB; mining and mapping sequence variants in voltage-gated potassium channels
   Lucy F. Stead, Ian C. Wood, David R. Westhead · 2010 · Human Mutation
2. Neuroinformatics in Clinical and Translational Medicine—Novel Approaches
   Randy L. Gollub, Dennis A. Turner · 2010 · Neuroinformatics
3. Perusal of Mbl2 Gene -Susceptibility to Tuberculosis in Different Indian Populations
   C. Umesh, A.M. Jamsheer, Prasad M. Alex, P. K. Krishnan Namboori · 2015 · Journal of Applied Pharmaceutical Science
4. Analysis of Genetic Disease Hemophilia B by Using Support Vector Machine
   Kenji Aoki, Kunihito Yamamori, Makoto Sakamoto, Hiroshi Furutani · 2012 · Lecture notes in computer science
5. Description of the first genetically confirming case with Donahue’s syndrome in Russia
   Yulia V. Tikhonovich, O. A. Malievskiy, Anatoly N Tyulpakov · 2016 · Problems of Endocrinology
6. The Human Genome
   Huntington F. Willard · 2012 · Elsevier eBooks
7. Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report
   Jinrong Li, Ruolan Hu, Jialing Wang, Ruixin Yu, Fei Xiong, Mingyan Jiang · 2021 · Translational Pediatrics
8. Adeno-associated viral delivery of engineered tRNA-enzyme pairs into nonsense mutation mouse models
   Zhetao Zheng, Ningning Shi, Qing Xia · 2022 · STAR Protocols
9. A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant
   Amir Anushiravani, Hossein Jafari Khamirani, Ashraf Mohamadkhani, Arya Mani, Mehdi Dianatpour, Reza Malekzadeh · 2023 · Archives of Iranian Medicine
10. Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
    Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi · 2023 · BMC Endocrine Disorders
11. Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
    Jianhui Zhang, Ai-ping Lin, Li Zhang, Dan‐dan Ruan, Mei-zhu Gao, Qian Chen, Hongping Yu, Lisheng Liao, Xin-fu Lin, Zhu-ting Fang et al. · 2024 · Digestive Diseases and Sciences
12. Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease
    Fatemeh Khadangi, Adam Torkamanzehi, Mohammad Amin Kerachian · 2020 · BMC Nephrology
13. Clinical Research in the Postgenomic Era
    Stephane M. Meystre, Scott P. Narus, Joyce A. Mitchell · 2012 · Computers in health care
14. Genomic Rearrangements: Mutational Mechanisms
    Jian‐Min Chen · 2011 · Wiley eBooks
15. Non-Syndromic atrioventricular septal defects
    Sonali S. Patel, Paul A. Romitti, THOMAS D. SCHOLZ, Jeffrey Clark Murray, Trudy L. Burns, Larry T. Mahoney · 2010
16. Whole Genome Sequencing: Innovation Dream or Privacy Nightmare?
    Emiliano De Cristofaro · 2012 · arXiv (Cornell University)
17. Mucopolysaccharide Storage Disorders
    Mirella Filocamo, D.N. Cooper, Maja Di Rocco · 2011 · Encyclopedia of Life Sciences
18. Evaluation of the Bleeding Patient
    Alice L. Ma, Marshall A. Mazepa · 2016
19. Long QT syndrome with mutations in three genes: A rare case
    Marina Fernandes, Sílvia Martins Ribeiro, Victor Manuel Sanfins, António Lourenço · 2015 · Revista Portuguesa de Cardiologia (English Edition)
20. A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant
    Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta · 2015 · Cardiogenetics
21. Association Between the Vitamin D Receptor Polymorphism in rs7975232 with the COVID-19 Susceptibility
    Zohreh Beiranvand, Ashkan Alamdary, Rasool Mohammadi, Mehdi Ajorloo · 2025 · Genetic Testing and Molecular Biomarkers
22. Rapid on-site SNP discrimination across diverse mutational contexts
    Jeongmin Lee, Doeon Sung, Chang Ha Woo, Bo Kyung Kim, Jeong Wook Lee · 2025 · Biosensors and Bioelectronics
23. DNA Repair Deficiency Associated with Hematological Neoplasms
    Panagiota Economopoulou, Vasiliki Pappa, Sotirios G. Papageorgiou, John Dervenoulas, Theofanis Economopoulos · 2011 · InTech eBooks
24. Navigating Web-Based Resources for Genetic Testing of Chromosome Abnormalities, CNVs and Gene Mutations
    Deqiong Ma, Bixia Xiang · 2014 · North American Journal of Medicine and Science
25. SNP analysis of Rac1 For personalized ligand interaction
    Norbert Maggi, Patrizio Arrigo, C. Ruggiero · 2010 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
26. Challenges in the Clinical Use of Genome Sequencing
    Robert C. Green, Heidi L. Rehm, Isaac S. Kohane · 2012
27. Exploring the Role of Genomic Architecture and the Local DNA Sequence Environment in Mediating Gene Mutations Underlying Human Inherited Disease
    D.N. Cooper · 2012 · Journal of Genetic Syndromes & Gene Therapy
28. SNPs in the 5'-regulatory region of the tyrosinase gene do not affect plumage color in ducks (Anas platyrhynchos)
    N.N. Zhang, Jiwei Hu, Hehe Liu, Huailiang Xu, H. He, Liang Li · 2015 · Genetics and Molecular Research
29. DNA Sequencing and Other Methods of Exonic and Genomic Analyses
    Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji · 2014 · Elsevier eBooks
30. Deficiencia de lipasa ácida lisosomal. Reporte de dos casos
    Luis Carbajal-Rodríguez · 2016
31. Enhanced Detection of Longer Insertions and Deletions in Clinical Exome Sequencing Improves Diagnostic Yield
    Deepali N. Shinde · 2015 · Journal of Genetics and Genome Research
32. Apparent Mineralocorticoid Excess
    Mabel Yau, Saroj Nimkarn · 2013 · Elsevier eBooks
33. Angelman Syndrome
    Charles A. Williams, Jennifer M. Mueller · 2014 · Elsevier eBooks
34. DNA sequencing and other methods of exonic and genomic analyses
    Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji · 2020 · Elsevier eBooks
35. Identification of the SIRT1 gene's most harmful non-synonymous SNPs and their effects on functional and structural features-an in silico analysis
    Desy Thayyil Menambath, Usha Sachidananda Adiga, Tirthal Rai, Sachidananda Adiga, Vijith Vittal Shetty · 2023 · F1000Research
36. Clinical diagnosis and treatment of apparent mineralocorticoid excess
    Mabel Yau, Saroj Nimkarn, Anne Macdonald, Maria I. New · 2023 · Elsevier eBooks
37. Hemophilia A: Diagnosis and Management
    Zühre Kaya, Nader Safarian, Behnaz Pezeshkpoor, Dorothy M. Adcock · 2023 · Springer eBooks
38. Environmental Toxicology: Carcinogenesis
    Vincent L. Wilson · 2012 · Springer eBooks
39. Bioinformatics Tools to Analyze Proteome and Genome Data
    Ritesh Kumar, Shalini Singh, Vikash Kumar Dubey · 2015 · Springer eBooks
40. Role of von Willebrand Factor—A1 Domain Variants P1266L, H1268D, C1272R, and C1272F in VWD
    C. George Priya Doss, Shabana Kouser Ali · 2015 · Advances in protein chemistry and structural biology
41. Analysing Cancer Signalling Pathways: A Structural Bioinformatics Approach
    Jitesh Doshi, Shubhankar Dutta, Kakoli Bose · 2019 · Springer eBooks
42. GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population
    Cláudia Sousa Reis, Ana Cristina Santos, Henrique Barros, Susana Fernandes, Carla Pinto Moura · 2021 · Acta Médica Portuguesa
43. A Missense Mutation (R723H) in the Head Motor Domain of β-MYH7 gene in an Indian HCM Patient and Phenotypic Plasticity
    Deepa Selvi Rani, Gnana Veera Subhashini, Ambure Sharadhadevi, Cyril Emmanuel, Kumarasamy Thangaraj K · 2021 · Clinical Cardiology and Cardiovascular Interventions
44. Translational Bioinformatics
    Jessica D. Tenenbaum, Nigam Haresh Shah, Russ Biagio Altman · 2021 · Springer eBooks
45. HPMPdb: A machine learning-ready database of protein molecular phenotypes associated to human missense variants
    Daniele Raimondi, Francesco Codicè, Gabriele Orlando, Joost W. H. Schymkowitz, Frédéric Rousseau, Yves Moreau · 2022 · Current Research in Structural Biology
46. The Genetics of Atherosclerosis
    Paul Johnson, Jack J. Kuritzky, Marschall S. Runge · 2015 · Atherosclerosis
47. Protein Interaction and Genetic Disease
    Niels Gregersen, Peter Bross, Rikke Katrine Jentoft Olsen, Johan Palmfeldt, Thomas J. Corydon · 2011 · Encyclopedia of Life Sciences
48. Predicting non-neutral missense mutations and their biochemical consequences using genome-scale homology modeling of human protein complexes
    Andrew J. Bordner, Barry Zorman · 2013 · arXiv (Cornell University)
49. Meckel Syndrome and Related Disorders
    Valeska Frank, Carsten Bergmann · 2013 · Encyclopedia of Life Sciences
50. HGMD (Human Gene Mutation Database)
    Malachi Griffith, Obi L. Griffith · 2004 · Dictionary of Bioinformatics and Computational Biology
51. GRAM: A generalized model to predict the molecular effect of a non-coding variant in a cell-type specific manner
    Shaoke Lou, Kellie A. Cotter, Tianxiao Li, Jin Hua Liang, Hussein Mohsen, Jason J. Liu, Jing Zhang, Sandra M. Cohen, Jinrui Xu, Haiyuan Yu et al. · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
52. A scalable random walk with restart on heterogeneous networks with Apache Spark for ranking disease-causing genes using type-2 fuzzy data fusion
    Mehdi Joodaki, Nasser Ghadiri, Zeinab Maleki, Maryam Lotfi Shahreza · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
53. The Implicit Role of Hotspot Mutations in the Sh3 Domain of Sh3d19 in Adipocyte Differentiation Pathway and its Association with Ras-Mediated Breast Cancer
    Aayushi Velingkar, Divya Sanap, Wanchha Maurya, Himanshu Singh, Chiranjeevi Padala, Sugunakar Vuree · 2024 · SSRN Electronic Journal
54. Mixture and Mixed Models Analysis for Genetic Variants
    Haimao Zhan · 2013 · eScholarship (California Digital Library)
55. The genetic associations of rhegmatogenous retinal detachment and ectopia lentis
    Aman Chandra · 2014 · UCL Discovery (University College London)
56. Improving the Semantics of a Conceptual Schema of the Human Genome by Incorporating the Modeling of SNPs
    Óscar Pastor, Matthijs van der Kroon, Ana M. Levín, Matilde Celma, Juan Carlos Casamayor · 2013 · Communications in computer and information science
57. Bioinformatics Approaches to the Functional Profiling of Genetic Variants
    Biao Li, Predrag Radivojac A, Sean David Mooney · 2012 · InTech eBooks
58. Investigação de Mutações no Gene BRCA1 em Famílias Brasileiras com Suspeita da Síndrome Hereditária do Câncer de Mama e/ou Ovário.
    Nathália Moreno Cury · 2012
59. Automating the gathering of relevant information from biomedical text
    Catherine Canevet · 2009 · OpenGrey (Institut de l'Information Scientifique et Technique)
60. MicroRNAs and Hereditary Disorders
    Matías Morin, Miguel Ángel Moreno-Pelayo · 2013
61. Utilizing high-throughput genomics methodologies to explore transcritomes and exomes
    Xiaojing Hong, Daniel F. Eberl, Erin E. Irish, Patrick D. Brophy, John Robert Manak, Sarit Smolikove · 2013
62. The Characteristics of Gene in an Economy
    Zhaoguang Hu, Zheng Hu · 2013 · Springer eBooks
63. Síndrome do QT longo: mutação trigénica, um caso raro
    Marina Fernandes, Sílvia Martins Ribeiro, Victor Manuel Sanfins, António Lourenço · 2015 · Revista Portuguesa de Cardiologia
64. Efficient SNP-sensitive alignment and database-assisted SNP calling for low coverage samples
    Ruibang Luo, Chang Yu, Chi-Man Liu, Tak‐Wah Lam, Thomas K. F. Wong, Siu‐Ming Yiu, Ruiqiang Li, Hing‐Fung Ting · 2012 · ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics (ACM-BCB)
65. Fabry disease: From dermatologic entity to a treatable multi-organ disease
    Robert J. Desnick · 2010 · Clinical Therapeutics
66. Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations
    John R. ten Bosch, Wayne W. Grody · 2014 · Springer eBooks
67. Methods for deep examination of DNA
    Mårten Neiman · 2013 · Figshare
68. Impact of transcriptional and posttranscriptional regulation of HNF4A and its target genes on diabetes and cancer
    Andrea Wirsing · 2010 · DuEPublico (University of Duisburg-Essen)
69. Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate
    Elizabeth T. Cirulli · 2010 · DukeSpace (Duke University)
70. Sequencing of the HNF1α gene in an Uyghur patient with maturity onset diabetes of the young
    Rebiya Nuli, Yilihamujan G Yimamu, Patamu Mohemaiti, Aierken Taxitiemuer · 2011 · The British Journal of Diabetes
71. Análise molecular de pacientes com síndrome de Smith-Magenis
    Gustavo Henrique Apolinário Vieira · 2011 · Aleph UCLA Undergraduate Research Journal for the Humanities and Social Sciences
72. Research progress in heritable dyslipidemia
    Yiqun He, Meifen Xu, Han Yu, Junwei Geng, Suxue Shi, Ling Xue, Zhongqiu Lu, Min‐Xin Guan · 2013 · Hereditas (Beijing)
73. Genetic Control of pre-mRNA Splicing and Diseases
    Zhixiang Lu · 2014 · Enliven Journal of Genetics Molecular and Cellular Biology
74. MEGA case-control study Protein S levels and the risk of venous thrombosis: results from the
    Carine J.M. Doggen, Willem M. Lijfering, Pieter H. Reitsma, Frits Richard Rosendaal, Maria Carolina Pintão, Daniel Dias Ribeiro, Irene D. Bezemer, Andrea Aparecida Garcia · 2013
75. Linking UniProtKB/Swiss-Prot Proteins to Pathway Information
    Jia Li · 2010
76. Genome-wide Epigenetic Data Facilitate Understanding of Disease Susceptibility
    Ross C. Hardison · 2012
77. The MutDB web tool for SNP analysis
    Tal Ronnen-Oron, Judy Qiuju Shi, Biao Li, Predrag Radivojac A, Sean David Mooney · 2012 · F1000Research
78. The effect of pathogenic and neutral variants to the formation of nucleosome
    Qin Zhang · 2013 · Tampere University Institutional Repository (Tampere University)
79. Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
    Hoorieh Saghafi, Majid Haghjoo, Sima Sabbagh, Niloofar Samiee, Farveh Vakilian, Mohammad Taghi Salehi Omran, Masoomeh Dadashi, Ahmad Amin, Mohammad Keramatipour · 2016 · PubMed Central
80. Inherited and de novo variation in human genomes
    Laurent C. Francioli · 2015 · Utrecht University Repository (Utrecht University)
81. Bioinformatics Algorithms for Identification of Amino Acid Mutations in Tandem Mass Spectrometry
    Jie Ma, Kunxian Shu, Qing Yu, Songfeng Wu, Yunping Zhu · 2014 · Scientia Sinica Vitae
82. Case 2: SGA Newborn with Respiratory Distress and Active Precordium
    Bryan W. Greenfield, Alexander R. Ellis, Samantha A. Schrier Vergano, MD · 2016 · NeoReviews
83. Fabry Disease: from Diagnosis to Therapy
    Ifrah Shafqat · 2012 · IOSR Journal of Pharmacy and Biological Sciences
84. Systematic associations between germ-line mutations and human cancers
    M Al Shammari, Desmond John Tobin, Yonghong Peng · 2016 · International Journal of Computational Biology and Drug Design
85. Porphyria and implication of molecular diagnosis
    Anupriya Kaur, Deepak Bansal · 2016 · Pediatric Hematology Oncology Journal
86. Congenital Erythropoietic Porphyria with Undescended Testis
    Sandeep Arora, Arun Kumar Harith, Neha Sodhi · 2016 · Indian Journal of Dermatology
87. Genetisk studie av norske familier med Charcot-Marie-Tooth sykdom
    Hanne Maria Holm · 2012 · BIBSYS Brage (BIBSYS (Norway))
88. Factor II, Factor V and Factor X Deficiencies
    Shannon L. Meeks · 2009 · Elsevier eBooks
89. The History, Biology, and Pathophysiology of Apparent Mineralocorticoid Excess
    John W. Funder · 2013 · Elsevier eBooks
90. Genomes and Nucleic Acid Alterations
    Carl T. Wittwer, Noriko Kusukawa · 2012 · Elsevier eBooks
91. Comparison of aggregation methods for multiphenotype exomic variant prioritization
    A. Sifrim, D. Popović, J. Vermeesch, J. Aerts, B. De Moor, Y. Moreau · 2016 · bioRxiv
92. Explanation and prediction of nsSNP-induced pathology using association mining, transduction, and active learning
    Nada Basit, Harry Wechsler · 2013 · Advanced Studies in Biology
93. SPAI: an interactive platform for indel analysis
    Mohammad Shabbir Hasan, Liqing Zhang · 2016 · BMC Genomics
94. This Provisional PDF corresponds to the article as it appeared upon acceptance. Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
    Catherine A. Brownstein, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Meghan C. Towne, Sarah Savage, Ingrid A. Holm, Lovelace J. Luquette · 2014
95. Two novel mutations in the Ankyrin-1 gene associated with Hereditary Spherocytosis
    Rafael Del Orbe · 2016 · Hematology & Transfusion International Journal
96. Análise molecular dos genes CAPN3 e FKRP em pacientes com distrofia muscular tipo cinturas
    Francisco Marcos Alencar da Silva · 2016
97. Caracterización clínica y biológica del proceso de transformación de los sindromes linfoproligferativos indolentes: análisis histológico, fenotípico y molecular
    Sara Alonso Álvarez · 2016
98. Enfermedad hepática y dislipemia como manifestación de deficiencia de lipasa ácida lisosomal (LAL-D). Aspectos clínicos, diagnósticos y nuevo tratamiento. Actualización
    Luisa B Bay, Cristina Cañero Velasco, Mirta E. Ciocca, Andrea Cotti, Miriam Liliana Cuarterolo, Alejandro Fainboim, E Fassio, Marcela Galoppo, Federico Piñero, Paula Adriana Rozenfeld · 2017 · Archivos Argentinos de Pediatria
99. Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets
    Perry Evans, Chao Wu, Amanda Lindy, Dianalee A. McKnight, Matthew S. Lebo, Mahdi Sarmady, Ahmad N. Abou Tayoun · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
100. A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing
     Helene Kvistgaard, Jane Christensen, Jan-Ove Johansson, Niels Gregersen, Charlotte Siggaard Rittig, Søren Rittig, Thomas J. Corydon · 2018 · Neuroendocrinology