The Human Gene Mutation Database: 2008 update

Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick ST, Cooper, David N·2009·Genome Medicine

Cited by (873)

Items 601–700 of 873

  1. MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature
    Nafiseh Saberian, Adib Shafi, Azam Peyvandipour, Sorin Drăghici · 2020 · Scientific Reports
  2. Translational Bioinformatics
    Jessica D. Tenenbaum, Nigam Haresh Shah, Russ Biagio Altman · 2013 · Springer eBooks
  3. Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells
    Christine R. Kaneski, Raphael Schiffmann, Roscoe O. Brady, Gary J. Murray · 2010 · Journal of Lipid Research
  4. Mutation Mechanisms
    Daniele Castiglia, Giovanna Zambruno · 2009 · Dermatologic Clinics
  5. Feasibility of Low-Throughput Next Generation Sequencing for Germline DNA Screening
    Nur Sabrina Sapari, Eiram Elahi, Mengchu Wu, Marie Chiew Shia Loh, Hong Kiat Ng, Xiao Han, Hui Ling Yap, Thomas Klemm, Brendan Pang, Touati Benoukraf et al. · 2014 · Clinical Chemistry
  6. A new de novo mutation in the GCK gene causing MODY2
    Alessia Cappelli, Serena Silvestri, Stefano Tumini, Silvia Carinci, Paola Cipriano, Luciano Massi, Paolo Staffolani, Luigi Pianese · 2011 · Diabetes Research and Clinical Practice
  7. Collection of variation causing disease - The Human Variome Project
    Richard G.H. Cotton · 2009 · Human Genomics
  8. Protein Biomarker Discovery
    Andrei P. Drabovich, Eduardo Martínez‐Morillo, Eleftherios P. Diamandis · 2019 · Wiley eBooks
  9. Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals
    Guillermo Palou-Márquez, Fran Supek · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  10. Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
    Gökçen Öz Tuncer, Aslıhan Sanrı, Seren Aydın, Özlem Hergüner, Nezir Özgün, Mustafa Kömür, Füsun Dilara İçağasıoğlu, Rabia Tütüncü Toker, Sanem Yılmaz, Elif Acar Arslan et al. · 2023 · Journal of Neuromuscular Diseases
  11. Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
    Özlem Özsoy, Tayfun Çinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Giray Bozkaya, Ahmet Okay Çağlayan, Semra Hız Kurul, Uluç Yiş · 2023 · Acta Neurologica Belgica
  12. Deep-GenMut: Automated genetic mutation classification in oncology: A deep learning comparative study
    Emad A. Elsamahy, Asmaa E. Ahmed, Tahsin Shoala, Fahima A. Maghraby · 2024 · Heliyon
  13. A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
    Claudia Dufke, Nina Schlipf, Rebecca Schüle, Michael von Bonin, Michaela Auer‐Grumbach, Giovanni Stévanin, Christel Depienne, Jan Kassubek, Stephan Klebe, Sven Klimpe et al. · 2012 · Neurogenetics
  14. Reads meet rotamers: structural biology in the age of deep sequencing
    Anurag Sethi, Declan Clarke, Jieming Chen, Sushant Kumar, Timur R. Galeev, Lynne Regan, Mark Gerstein · 2015 · Current Opinion in Structural Biology
  15. 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. · 2019 · PLoS Genetics
  16. Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees
    Feng Jiang, Jing Ying Yan, Rong Zhang, Xiaojing Ma, Yuqian Bao, Yujuan Gu, Cheng Hu · 2021 · Frontiers in Endocrinology
  17. Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
    Zara Wermers, Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G. Biesecker, Jennifer J. Johnston · 2024 · Genetics in Medicine
  18. Functional Annotation of Rare Genetic Variants
    Graham R. S. Ritchie, Paul Flicek · 2015 · Springer eBooks
  19. Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis
    Dana Ulbrichová, Pavel Martasek E · 2009 · Analytical Biochemistry
  20. An Exploratory Ethnographic Study of Issues and Concerns with Whole Genome Sequencing
    Emiliano De Cristofaro · 2014 · Workshop on Usable Security (USEC)
  21. Small Insertions Are More Deleterious than Small Deletions in Human Genomes
    Shengfeng Huang, Jie Li, Anlong Xu, Guangrui Huang, Leiming You · 2013 · Human Mutation
  22. Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing
    Seok Jae Huh, Sung Yong Oh, Suee Lee, Ji Hyun Lee, Sung Kim, Min Gyoung Pak, Hyo-Jin Kim · 2020 · Oncology Letters
  23. Learning Useful Representations of DNA Sequences From ChIP-Seq Datasets for Exploring Transcription Factor Binding Specificities
    Lijun Quan, Xiaoyu Sun, Jian Wu, Jie Mei, Liqun Huang, Ruji He, Liangpeng Nie, Yu Chen, Qiang Lyu · 2020 · IEEE Transactions on Computational Biology and Bioinformatics
  24. Quantification of TUNEL Assay in Hippocampus of Diabetic Rats by MAT LAB: Comparison with Stereological Method
    Shahriar Ahmadpour, Mohamad Amin Younessi Heravi · 2012 · Journal of Clinical & Experimental Pathology
  25. Lysosomal acid lipase deficiency in all siblings of the same parents
    James J. Maciejko, Premchand Anne, Saleem Raza, Hernando J. Lyons · 2017 · Journal of clinical lipidology
  26. Molecular Genetic Testing and the Future of Clinical Genomics
    S.H. Katsanis, Nicholas Katsanis · 2016 · Elsevier eBooks
  27. An integrated map of genetic variation from 1,092 human genomes
    The University of North Carolina at Chapel Hill University Libraries · 2020 · Carolina Digital Repository (University of North Carolina at Chapel Hill)
  28. Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity
    Ian Casci, William K. Accousti, Yves Lacassie · 2014 · American Journal of Medical Genetics Part A
  29. A comprehensive analysis of cancer-driving mutations and genes in kidney cancer
    Chengmei Long, Jinbo Jian, Xinchang Li, Gongxian Wang, Jingen Wang · 2017 · Oncology Letters
  30. Prospects for the automated extraction of mutation data from the scientific literature
    Peter D. Stenson, D.N. Cooper · 2010 · Human Genomics
  31. Myeloperoxidase aggravates thoracic aortic aneurysm formation in Marfan disease
    Dennis Mehrkens, Johannes Dohr, Felix Sebastian Nettersheim, Felix Ballmann, Jil Bastigkeit, Alexander Brückner, Simon Geißen, Lauren De Vore, Cedric Fitsch, Chris Diekmann et al. · 2025 · Cardiovascular Research
  32. Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
    Mariana Matioli da Palma, Fabiana Louise Motta, Caio Perez Gomes, Mariana Vallim Salles, João Bosco Pesquero, Juliana Maria Ferraz Sallum · 2020 · Investigative Ophthalmology & Visual Science
  33. Bioinformatics approach for the AHSG gene polymorphisms : An in silico analysis
    Usha Sachidananda Adiga, Neha Martin Honnalli · 2023 · Annals of Phytomedicine An International Journal
  34. Monogenic Diabetes Reported in South Asians: A Systematic Review
    Venkatesan Radha, Sekar Kanthimathi, Anandakumar Amutha, Balaji Bhavadharini, Ranjit Mohan Anjana, Ranjit Unnikrishnan I, Viswanathan Mohan · 2023 · Journal of the Indian Institute of Science
  35. Newly discovered variants in unexplained neonatal encephalopathy
    Rong Zhang, Jingjing Xie, Xiao Fan Yuan, Yan Yu, Yan Zhuang, Fan Zhang, Jianfei Hou, Yanqin Liu, Weiqing Huang, Min Zhang et al. · 2024 · Molecular Genetics & Genomic Medicine
  36. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21
    Eduardo Calpena, Dolores Martínez‐Rubio, Javier Arpa, Juan José Garcı́a-Peñas, David Andres Montaner, Joaquı́n Dopazo, Francesc Palau, Carmen Espinós · 2014 · Neuromuscular Disorders
  37. Regulatory single nucleotide polymorphisms (rSNPs) at the promoters 1A and 1B of the human APC gene
    M. Yu. Matveeva, Elena V. Kashina, Vasiliy V. Reshetnikov, Leonid O. Bryzgalov, Elena V. Antontseva, Natalia P. Bondar, Tatiana I. Merkulova · 2016 · BMC Genetics
  38. Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case
    Kathryn S. McClelland, Humphrey Hung‐Chang Yao · 2017 · Sexual Development
  39. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
    Min Li, Jianguo Zhang, Xiaoyan Huang, Mao Tian, Jiankang Li, Ling Cui · 2017 · Indian Journal of Ophthalmology
  40. P-Protein: A Novel Target for Skin-whitening Agent
    B. K. Singh, Eun-Ki Kim · 2019 · Biotechnology and Bioprocess Engineering
  41. Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients
    Laura López de Frutos, Pilar Alfonso, Carlos Lahoz, Pilar Irún, Pilar Giraldo · 2020 · Medicina Clínica
  42. Genetics of Endocrinology
    Amit R. Majithia, David Altshuler, Joel N. Hirschhorn · 2016 · Elsevier eBooks
  43. Simple and efficient screening of patients with Fabry disease with high resolution melting
    Gabriela Pasqualim, Bruna Almeida dos Santos, Roberto Giugliani, Úrsula da Silveira Matte · 2018 · Clinical Biochemistry
  44. No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY
    Yukio Horikawa, Kazuyoshi Hosomichi, Mayumi Enya, Hiroyuki Ishiura, Yutaka Suzuki, Shoji Tsuji, Sumio Sugano, Ituro Inoue, Jun Takeda · 2018 · Journal of Human Genetics
  45. Identifying the Impact of Inframe Insertions and Deletions on Protein Function in Cancer
    Hanadi M. Baeissa, Frances M. G. Pearl · 2019 · Journal of Computational Biology
  46. Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume
    Esra Arslan Ateş, Mehmet Eltan, Bahadir Sahin, Büşra Gürpınar Tosun, Tuba Seven Menevse, Bilgen Bilge Geckinli, Andy Greenfield, Serap Turan, Abdullah Bereket, Tulay Guran · 2022 · European Journal of Endocrinology
  47. A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
    Nasamon Wanlapakorn, Pornjarim Nilyanimit, T. Vorawandthanachai, T. Deesudjit, Netsiri Dumrongpisutikul, Yong Poovorawan · 2015 · Genetics and Molecular Research
  48. Do Inherited Disease Genes Have Distinguishing Functional Characteristics?
    D.N. Cooper, Matthew E. Mort · 2010 · Genetic Testing and Molecular Biomarkers
  49. Prediction of the influences of missense mutations on cholesteryl ester transfer protein structure
    Alexander D. Dergunov · 2014 · Archives of Biochemistry and Biophysics
  50. Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection
    Milan Surovy, Andrea Šoltýsová, Miriam Kolníková, Pavol Sýkora, Denisa Ilenčíková, Andrej Ficek, Ján Radvánszky, Ľudevít Kádaši · 2016 · General Physiology and Biophysics
  51. KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts
    Paul S. Kruszka, Karin Weiss, Donald W. Hadley · 2017 · Military Medicine
  52. Neonatal hemolytic anemia does not always indicate thalassemia: a case report
    Arwa A. Al-Harazi, Bilguis M. Al-Eryani, Butheinah A. Al-Sharafi · 2017 · BMC Research Notes
  53. Genotype-Phenotype Heterogeneity in Haemophilia
    Muhammad Tariq Masood Khan, Abid Sohail Taj · 2019 · IntechOpen eBooks
  54. The Metabolic Syndrome
    Matthew Bruce Lanktree, TISHA R. JOY, Robert Alexander Hegele · 2012 · Elsevier eBooks
  55. Countering Gattaca: Efficient and Secure Testing of Fully-Sequenced Human Genomes (Full Version)
    Pierre Baldi, Roberta Baronio, Emiliano De Cristofaro, Paolo Gasti, Gene Tsudik · 2011 · arXiv (Cornell University)
  56. In Silico Analysis of Non Synonymous Single Nucleotide Polymorphisms (nsSNPs) of SMPX Gene in Hearing Impairment
    Md. Arifuzzaman, Sarmistha Mitra, Amir Hamza, Raju Das, Nurul Absar, Raju Dash · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
  57. Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population
    Ewa Matczyńska, Robert Szymańczak, Katarzyna Stradomska, Przemysław Łyszkiewicz, Maria Jędrzejowska, Karolina Kamińska, Marta Beć-Gajowniczek, Ewa Suchecka, Marek Zagulski, Marta P. Wiącek et al. · 2024 · Genes
  58. Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis ( ST3GAL5 ) and calcium voltage-gated channels ( CACNA1H ) - insights through molecular dynamic simulations
    Rizwan Abid, Haseeb Nisar, Safee Ullah Chaudhary, Maham Hamid, Kashif Iqbal Sahibzada, Safia Firdous, Muhammad Mudassar, Saima Sadaf · 2024 · Journal of Biomolecular Structure and Dynamics
  59. INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome
    Yilin Wei, Tongda Zhang, Bangyao Wang, Xiaosen Jiang, Fei Ling, Mingyan Fang, Xin Jin, Yong Bai · 2024 · Human Genetics and Genomics Advances
  60. Unraveling the genetic basis of MODY: insights from next-generation sequencing
    Metin Eser, Gulam Hekimoğlu, Fatma Dursun · 2024 · Journal of Applied Genetics
  61. Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene
    Wybrich R Cnossen, Jake S.F. Maurits, Jody Salomon, René H. M. te Morsche, Esmé Waanders, Joost P.H. Drenth · 2015 · Journal of Clinical Laboratory Analysis
  62. A novel p.Leu213X mutation in GJB2 gene in a Portuguese family
    Ana Cláudia Gonçalves, Joana Rita Chora, Tiago Daniel Matos, Ricardo Machado Santos, Assunção O’Neill, Pedro Escada, Graça Fialho, Helena Caria · 2012 · International Journal of Pediatric Otorhinolaryngology
  63. Towards Elucidating the Structural Principles of Host-Pathogen Protein-Protein Interaction Networks: A Bioinformatics Survey
    Huaming Chen, Jiangning Song, Geng Sun, Jun Shen, Lei Wang · 2017 · IEEE International Congress on Big Data (BigData Congress)
  64. Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer’s disease
    Guozhen Qiu, Feiqi Zhu, Chunyan Xu · 2021 · Journal of Clinical Neuroscience
  65. Exploration of Mutated Genes and Prediction of Potential Biomarkers for Childhood-Onset Schizophrenia Using an Integrated Bioinformatic Analysis
    Fan He, Yuming Zhou, Yan‐Jie Qi, Huanhuan Huang, Lin Guan, Jie Luo, Yu-hang Cheng, Yi Zheng · 2022 · Frontiers in Aging Neuroscience
  66. Functional characterization of novel variants found in patients with suspected Fabry disease
    Patrícia Varela, Priscila Nicolicht, Renan Paulo Martin, Joyce Yamamoto, Vânia D’Almeida, Ana María Martins, João Bosco Pesquero · 2022 · Clinica Chimica Acta
  67. Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing
    Lauren A. Choate, Alaa Koleilat, Kimberley Harris, Noemi Vidal‐Folch, Adam J. Guenzel, Jessica Newman, B. J. Peterson, Sandra E. Peterson, Christopher S. Rice, Laura J. Train et al. · 2023 · Clinical Chemistry
  68. α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms
    Maryana Mara Marins, Marco A. Curiati, Caio Perez Gomes, Renan Paulo Martin, Priscila Nicolicht, Joyce Umbelino da Silva Yamamoto, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero · 2024 · Orphanet Journal of Rare Diseases
  69. NGS for Sequence Variants
    Shaolei Teng · 2016 · Advances in experimental medicine and biology
  70. A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal Bleeding
    Wan Kim, Edmond G. Lemire, Siddarth Nosib, Shravankumar Nosib · 2021 · CJC Open
  71. Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
    Xing Fu, Juan Du · 2022 · Neurological Sciences
  72. Molecular genetic diagnosis of neurofibromatosis type I
    Noémi Polgár, Katalin Komlósi, Kinga Hadzsiev, Tamás Illés, Béla Melegh · 2011 · Orvosi Hetilap
  73. Using the plurality of codon positions to identify deleterious variants in human exomes
    Sankar Subramanian · 2014 · Bioinformatics
  74. Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
    Véronique T. Humbertclaude, Sylvie Tuffery‐Giraud, Corinne Bareil, C. Thèze, Damien Paulet, François-Olivier Desmet, Dalil Hamroun, David Baux, Anne Girardet, Gwenaëlle Collod‐Béroud et al. · 2009 · Pathologie Biologie
  75. Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes
    Ping Jin, Rongrong Cai, Xiaodan Zhou, Jesse Li‐Ling, Fei Ma · 2012 · Mutation research. Fundamental and molecular mechanisms of mutagenesis
  76. Chromosomal Distribution of Disease Genes in the Human Genome
    D.N. Cooper, Edward V. Ball, Matthew E. Mort · 2010 · Genetic Testing and Molecular Biomarkers
  77. Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation
    Maurizio Delvecchio, Rosa Di Paola, Davide Mangiacotti, Michele Carmine Sacco, Claudia Menzaghi, Vincenzo Trischitta · 2014 · The Italian Journal of Pediatrics/Italian journal of pediatrics
  78. Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations
    Guojie Zhang, Zhang Pei, Edward V. Ball, Matthew E. Mort, Hildegard Kehrer‐Sawatzki, D.N. Cooper · 2011 · Human Genomics
  79. Users' Attitudes, Perception, and Concerns in the Era of Whole Genome Sequencing.
    Emiliano De Cristofaro · 2013
  80. Genomics relevant to the neuroanaesthesiologist
    Vidya Chidambaran · 2016 · Journal of Neuroanaesthesiology and Critical Care
  81. Mutation pattern is an influential factor on functional mutation rates in cancer
    Chuan-Ce Du, Xiao-Yuan Wu, Jia Li · 2016 · Cancer Cell International · Retracted
  82. Genomic Data and Disease Forecasting: Application to Type 2 Diabetes (T2D)
    L. Sirovich · 2014 · PLoS ONE
  83. Computational analysis of hereditary spastic paraplegia mutations in the kinesin motor domains of KIF1A and KIF5A
    Vidhyanand Mahase, Adebiyi Sobitan, Christina Johnson, Farion Cooper, Yixin Xie, Lin Li, Shaolei Teng · 2020 · Journal of Theoretical and Computational Chemistry
  84. A new mutation in DNM2 gene in a large Italian family
    Diego Lopergolo, Silvia Bocci, Anna Maria Pinto, Floriana Valentino, Gabriella Doddato, Federica Ginanneschi, Nila Volpi, Alessandra Renieri, Fabio Giannini · 2021 · Neurological Sciences
  85. Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
    Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu · 2021 · Orphanet Journal of Rare Diseases
  86. Hemophilia A
    Mohammad Saeed Gholami, Mohsen Valikhani, Akbar Dorgalaleh, Sayed Hamid Mousavi, Behnaz Pezeshkpoor · 2018 · Springer eBooks
  87. Characterizing and comparing missense variants in monogenic disease and in cancer
    Yizhou Yin, John Moult · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  88. VEGN: Variant Effect Prediction with Graph Neural Networks
    Jun Cheng, Carolin Lawrence, Mathias Niepert · 2021 · arXiv (Cornell University)
  89. The association of serum level and polymorphisms of IFN-γ (rs2069705) with the susceptibility to cutaneous leishmaniasis
    Ula Farooq Ramzi, Entsar Jabbar Saheb, Watheq Muhammed Hussein · 2024 · Cytokine
  90. Single-strand deaminase-assisted editing for functional RNA manipulation
    Yuan Zhuang, Qingguo Zhu, Hao Wu, Xi Lin, Yongchang Yan, Puze Geng, Rong Yang, Ruoyu Shen, Yuhao Zhang, Zhixin Lei et al. · 2026 · Nature Biotechnology
  91. Another “Complex” Case: Complex I Deficiency Secondary to Acyl-CoA Dehydrogenase 9 Mutation
    Rodney S. Daniel, Manmeet B. Singh, Kenneth O'Rourke · 2015 · The American Journal of the Medical Sciences
  92. The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population
    Mikhail А. Fedyakov, Ю.А. Барбитов, Elena A. Serebryakova, Tatiana M. Pervunina, Nikolay N. Vlasov, Е. А. Корниенко, Аndrey S. Glotov, Аndrey М. Sarana, Sergey G. Shcherbak, Oleg S. Glotov · 2018 · Педиатрическая фармакология
  93. Angelman syndrome
    Jennifer M. Mathews, Emily K. Cook, Seth S. Margolis, Charles A. Williams · 2020 · Elsevier eBooks
  94. Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
    Ali Topak · 2023 · Laboratory Medicine
  95. In Silico Analysis of Single Nucleotide Polymorphisms Related to Susceptibility and Severity in COVID-19 Patients
    Yulia Ariani, Indra Muhiardi, Farah Shabihah · 2023 · eJournal Kedokteran Indonesia
  96. Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants
    Dsouza, Nikita R., Haque, Neshatul, Tripathi, Swarnendu, Zimmermann, Michael T. · 2024 · International Journal of Molecular Sciences
  97. Unraveling the structural and functional consequences of non-synonymous single-nucleotide polymorphisms (nsSNPs) in human SOCS2: an in silico approach
    Tanvir Hossain, Md. Nur Islam, Md. Anwar Hossain, Md. Mofizur Rahman, Mohammed Mafizul Islam, Shipan Das Gupta · 2025 · Egyptian Journal of Medical Human Genetics
  98. Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice
    Renate Marquis‐Nicholson, Debra O. Prosser, Jennifer M. Love, Donald R. Love · 2013 · Microarrays
  99. CancerProView: A graphical image database of cancer-related genes and proteins
    Susumu Mitsuyama, Nobuyoshi Shimizu · 2012 · Genomics
  100. Design and development of a genomic information system to manage breast cancer data
    Verónica Burriel · 2012 · International Conference on Research Challenges in Information Science (RCIS)