Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

Botstein, David, Risch, Neil·2003·Nature Genetics

Cited by (1,000)

Items 801–900 of 1,000

  1. Haplotype analysis in the presence of informatively missing genotype data
    Nianjun Liu, Isabel Beerman, Richard P. Lifton, Hongyu Zhao · 2006 · Genetic Epidemiology
  2. Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2
    Martine Dumont, David Frank, Anne-Marie Moisan, Martine Tranchant, Penny Soucy, Rock Breton, Fernand Labrie, Sean V. Tavtigian, Jacques Simard · 2004 · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression
  3. Redefining disease
    John I. Bell · 2010 · Clinical Medicine
  4. Analysis of Genetic Variation in the GenomEUtwin Project
    Kaisa Silander, Tomas Axelsson, Elisabeth Widén, Andreas Dahlgren, Aarno V. Palotie, Ann‐Christine Syvänen · 2003 · Twin Research
  5. Localization of Cancer Susceptibility Genes by Genome-wide Single-Nucleotide Polymorphism Linkage-Disequilibrium Mapping
    Nandita Mitra, Tian-Zhang Ye, Alex Smith, Shaokun Chuai, Tomas Kirchhoff, Paolo Peterlongo, Khédoudja Nafa, Michael S. Phillips, Kenneth Offit, Nathan A. Ellis · 2004 · Cancer Research
  6. Genotype susceptibility and integrated risk factors for complex diseases
    Weidong Mao, Dumitru Brinza, Nisar Hundewale, Stefan Gremalschi, Alex Zelikovsky · 2006 · IEEE International Conference on Granular Computing (GrC)
  7. Pharmacogenomics and the Promise of Personalized Medicine
    Vural Özdemir, Bernard Lerer · 2005 · Drugs and the pharmaceutical sciences
  8. Otosclerosis or Congenital Stapes Ankylosis? The Diagnostic Role of Genetic Analysis
    Sarah B. Emery, Anna Katrine Meyer, Laura Jane Miller, Marci M. Lesperance · 2009 · Otology & Neurotology
  9. Next generation diagnostics of heritable connective tissue disorders
    Amr Salam, Michael A. Simpson, Kristina L. Stone, Takuya Takeichi, Arti Nanda, Masashi Akiyama, John Alexander McGrath · 2013 · Matrix Biology
  10. Single-Nucleotide Polymorphism to Associate Cancer Risk
    Victoria E. Shaw, Katie Bullock, William Greenhalf · 2015 · Methods in molecular biology
  11. Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
    Psychiatric GWAS Consortium Coordinating Committee · 2010 · FOCUS The Journal of Lifelong Learning in Psychiatry
  12. Beta globin frameworks in thalassemia major patients from north iran.
    Haleh Akhavan‐Niaki, Ali Banihashemi, Mandana Azizi · 2012 · Europe PMC (PubMed Central)
  13. Genetics of infectious diseases: hidden etiologies and common pathways
    Marianna Orlova, Tania Di Pietrantonio, Erwin Schurr · 2011 · Clinical Chemistry and Laboratory Medicine (CCLM)
  14. Accuracy of haplotype estimation in a region of low linkage disequilibrium
    Christy L. Avery, Lisa Joy Martin, Jeff T. Williams, Kari E. North · 2005 · BMC Genetics
  15. Phenotype Data: A Neglected Resource in Biomedical Research?
    Philip Groth, B Weiss · 2006 · Current Bioinformatics
  16. Schizophrenia: genetics, prevention and rehabilitation
    Paolo Olgiati, Laura Mandelli, Cristina Lorenzi, Elena Marino, Adele Pirovano, Barbara Ferrari, Diana De Ronchi, Alessandro Serretti · 2009 · Acta Neuropsychiatrica
  17. A genetic variant in p63 (rs17506395) is associated with breast cancer susceptibility and prognosis
    Ning Zhang, Qiang Huo, Xiaolong Wang, Xi Chen, Long Li, Xiao Guan, Liyu Jiang, Tingting Ma, Wenwei Hu, Qifeng Yang · 2013 · Gene
  18. Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations
    Heather A. Jackson, Eric A. Accili · 2008 · BMC Evolutionary Biology
  19. Genetics and the general physician: insights, applications and future challenges
    Julian Charles Knight · 2009 · QJM
  20. Whole genome sequencing and its applications in medical genetics
    Jiaxin Wu, Mengmeng Wu, Ting Chen, Rui Jiang · 2016 · Quantitative Biology
  21. Single Nucleotide Polymorphisms
    Nameeta Shah · 2008 · Springer protocols handbooks/Springer protocols
  22. Place of genotyping and phenotyping in understanding and potentially modifying outcomes in peritoneal dialysis patients
    Jonas Axelsson, Olivier Devuyst, Louise Nordfors, Olof Heimbürger, Peter Stenvinkel, Bengt Lindholm · 2006 · Kidney International
  23. Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs
    Maxim Barenboim, D. Curtis Jamison, Iosif I. Vaisman · 2005 · Human Mutation
  24. Genomics and the circulation
    Mihai V. Podgoreanu, Debra A. Schwinn · 2004 · British Journal of Anaesthesia
  25. A Deep Learning-based Genome-wide Polygenic Risk Score for Common Diseases Identifies Individuals with Risk
    Jiajie Peng, Jingyi Li, Ruijiang Han, Yuxian Wang, Lu Han, Jinghao Peng, Tao Wang, Jianye Hao, Xuequn Shang, Zhongyu Wei · 2021 · medRxiv
  26. Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis
    Benjamin J. Grady, Marylyn DeRiggi Ritchie · 2011 · Current pharmacogenomics and personalized medicine (Online)/Current pharmacogenomics and personalized medicine
  27. Unraveling Pathophysiology of Takotsubo Syndrome: The Emerging Role of the Oxidative Stress’s Systemic Status
    Nicola Viceconte, Greta Petrella, Francesco Pelliccia, Gaetano Tanzilli, Daniel O. Cicero · 2022 · Journal of Clinical Medicine
  28. A review of genotrichoses and hair pathology associated with inherited skin diseases
    Brent J. Doolan, Tuntas Rayinda, Frank Po‐Chao Chiu, John Alexander McGrath, Alexandros Onoufriadis · 2023 · British Journal of Dermatology
  29. A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk
    Emily L. Webb, Peter Broderick, Steven J Lubbe, Ian P. Chandler, Ian P.M. Tomlinson, Richard S. Houlston · 2009 · European Journal of Human Genetics
  30. Gagueira desenvolvimental persistente familial: perspectivas genéticas
    Breila Vilela de Oliveira, Carlos Eduardo Frigério Domingues, Fabíola Staróbole Juste, Cláudia Regina Furquim de Andrade, Danilo Moretti‐Ferreira · 2012 · Revista da Sociedade Brasileira de Fonoaudiologia
  31. Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship
    Toyanji Joseph Punchaichira, Sanjay Kumar Dey, Anirban Mukhopadhyay, Suman Kundu, Bittianda Kuttapa Thelma · 2017 · Neurogenetics
  32. DESeeker: Detecting Epistatic Interactions Using a Two-Stage Differential Evolution Algorithm
    Boxin Guan, Yuhai Zhao, Yuan Li · 2019 · IEEE Access
  33. A Network-Biology Informed Computational Drug Repositioning Strategy to Target Disease Risk Trajectories and Comorbidities of Peripheral Artery Disease.
    Khader Shameer, Garrett T. Dow, Benjamin Scott Glicksberg, Kipp W. Johnson, Yi Ze, Max Tomlinson, Ben Readhead, Joel T. Dudley, Iftikhar J. Kullo · 2018 · Europe PMC (PubMed Central)
  34. Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
    Niaz Muhammad Khan, Basharat Hussain, Chenqing Zheng, Ayaz Khan, Muhammad Shareef Masoud, Qingquan Gu, Linhui Qiu, Naveed Altaf Malik, Muhammad Qasim, Muhammad Tariq et al. · 2021 · Frontiers in Pediatrics
  35. Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages
    Ayşe Candayan, Yeşim Parman, Esra Battaloğlu · 2022 · Balkan Medical Journal
  36. Unravelling the genetic basis of sarcoidosis
    Coline H.M. van Moorsel, Martin Petřek, Natalia V. Rivera · 2022 · European Respiratory Society eBooks
  37. Introduction to Omics
    Ewa Gubb, Rune Matthiesen · 2009 · Methods in molecular biology
  38. Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
    Ben Kinnersley, Yoichiro Kamatani, Marianne Labussière, Yufei Wang, Pilar Galan, Karima Mokhtari, Jean‐Yves Delattre, Konstantinos Gousias, Johannes Schramm, Minouk J. Schoemaker et al. · 2015 · European Journal of Human Genetics
  39. Identification of mitochondrial disease genes through integrative analysis of multiple datasets
    Raeka S. Aiyar, Julien Gagneur, Lars Michael Steinmetz · 2008 · Methods
  40. Epidemiología genética de la obesidad: estudios familiares
    José Luis Santos M, José Alfredo Martínez H, Francisco Pérez B, Cecilia Albala B · 2005 · Revista médica de Chile
  41. Haplotype‐Based Association Analysis in Cohort and Nested Case–Control Studies
    Jinbo Chen, Nilanjan Chatterjee · 2005 · Biometrics
  42. Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene
    Richard G. Del Mastro, Laura Turenne, Heidi Giese, Tim Perri Keith, Paul Van Eerdewegh, Klaus JW May, Randall D Little · 2007 · BMC Medical Genetics
  43. Mapping Nucleotide Sequences that Encode Complex Binary Disease Traits with HapMap
    Yuehua Cui, Wenjiang Fu, Kelian Sun, Roberto J. Romero, Rongling Wu · 2007 · Current Genomics
  44. Phenotypic and genotypic data integration and exploration through a web-service architecture
    Angelo Nuzzo, Alberto Riva, Riccardo Bellazzi · 2009 · BMC Bioinformatics
  45. Allelic Variation and Human Longevity
    Almut Nebel, Stefan Schreiber · 2005 · Science of Aging Knowledge Environment
  46. Review: Genetic epidemiological approaches in the study of risk factors for cardiovascular disease
    A. Iliadou, H. Snieder · 2003 · European Journal of Epidemiology
  47. Genome-Wide Association Studies: Present Status and Future Directions
    Judy H. Cho · 2010 · Gastroenterology
  48. Gene discovery for dental anomalies
    Trevor J. Pemberton, Jason Gee, Pragna I. Patel · 2006 · The Journal of the American Dental Association
  49. Recent Advances in Predicting Functional Impact of Single Amino Acid Polymorphisms: A Review of Useful Features, Computational Methods and Available Tools
    Mingjun Wang, Zhongwei Sun, Tatsuya Akutsu, Jiangning Song · 2013 · Current Bioinformatics
  50. Refining the results of a whole‐genome screen based on 4666 microsatellite markers for defining predisposition factors for multiple sclerosis
    René Gödde, V. G. Nigmatova, Peter Jagiello, E. Sindern, Michael R Haupts, Sebastian Schimrigk, Jörg T. Epplen · 2004 · Electrophoresis
  51. Hypertension and SNP Genotyping in Antihypertensive Treatment
    Lisa Kurland, Ulrika Liljedahl, Lars Lind · 2005 · Cardiovascular Toxicology
  52. The allelic spectra of common diseases may resemble the allelic spectrum of the full genome
    William Y.S. Wang, Nathan Pike · 2004 · Medical Hypotheses
  53. Classifiers for Modeling of Mineral Potential
    Alok K. Porwal, Emmanuel John M. Carranza · 2008 · Wiley eBooks
  54. Integrating microarrays into disease-gene identification strategies
    Seth E Dobrin, Dietrich A. Stephan · 2003 · Expert Review of Molecular Diagnostics
  55. Epigenetics: an Expanding New Piece of the Stroke Puzzle
    William J. Pearce · 2011 · Translational Stroke Research
  56. Omics Technologies Used in Systems Biology
    Delisha A. Stewart, Suraj Dhungana, Robert F. Clark, Wimal Pathmasiri, Susan McRitchie, Susan Sumner · 2015 · Elsevier eBooks
  57. Gene- and evidence-based candidate gene selection for schizophrenia and gene feature analysis
    Jingchun Sun, Leng Han, Zhongming Zhao · 2009 · Artificial Intelligence in Medicine
  58. Chip-based direct genotyping of coding variants in genome wide association studies: Utility, issues and prospects
    Caroline M. Nievergelt, Nathan E. Wineinger, Ondrej Libiger, Phillip Pham, Guangfa Zhang, Dewleen G. Baker, Nicholas J. Schork · 2014 · Gene
  59. Combined analysis of whole‐exon sequencing and lncRNA sequencing in type 2 diabetes mellitus patients with obesity
    Tian An, Jing Zhang, Yufei Liu, Yanxiang Wu, Juan Lian, Tingye Wang, Yuanyuan Hu, Jiajian Zhu, Jiangpinghao Huang, Dandan Zhao et al. · 2020 · Journal of Cellular and Molecular Medicine
  60. A query language to support scientific discovery
    Barbara A. Eckman, Kerry Deutsch, Marta Janer, Zoé Lacroix, Louiqa Raschid · 2004 · IEEE Computational Systems Bioinformatics Conference (CSB)
  61. ProSim: A Method for Prioritizing Disease Genes Based on Protein Proximity and Disease Similarity
    Gamage Upeksha Ganegoda, Yu Sheng, Jianxin Wang · 2015 · BioMed Research International
  62. Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selection
    D. Fredman, S. Sawyer, Linda Stromqvist, S. Mottagui-Tabar, K. Kidd, C. Wahlestedt, S. Chanock, A. Brookes · 2006 · Human Mutation
  63. Behavioral Genetics, Genomics, Intelligence, and Mental Retardation
    Grace Iarocci, Stephen A. Petrill · 2012 · Oxford University Press eBooks
  64. Fine scale structural variants distinguish the genomes of Drosophila melanogaster and D. pseudoobscura.
    Stuart J. Macdonald, Anthony D. Long · 2006 · Genome biology
  65. Genetics of Hidradenitis Suppurativa
    Jan von der Werth, Pam Wood, Alan David Irvine, W.H. Irwin McLean · 2006 · Springer eBooks
  66. Strategy for mapping quantitative trait loci (QTL) by using human metapopulations.
    Igor Rudan, Zrinka Biloglav, Andrew D. Carothers, Alan F. Wright, Harry Campbell · 2006 · PubMed Central
  67. Detecting genetic predisposition for complicated clinical outcomes after burn injury
    Robert C. Barber, L.Y. Chang, Gary F. Purdue, John L. Hunt, Brett D. Arnoldo, Corinne Aragaki, Jureta W. Horton · 2006 · Burns
  68. Population genetics for target identification
    Daniel G. Healy, Patrick M. Abou‐Sleiman, David B. Goldstein, Nicholas William Wood · 2004 · Drug Discovery Today Technologies
  69. Novel Technology and the Development of Pharmacogenetics within the Pharmaceutical Industry
    Neil J. Gibson, Ansar Jawaid, Ruth E. March · 2005 · Pharmacogenomics
  70. β2‐ADRENOCEPTOR POLYMORPHISMS AND OBSTRUCTIVE AIRWAY DISEASES: IMPORTANT ISSUES OF STUDY DESIGN
    Ian A. Yang, N Taria, Peter Molenaar, Kwun Meng Fong · 2007 · Clinical and Experimental Pharmacology and Physiology
  71. Genetic Modifiers of Cancer Risk
    Neil E. Caporaso · 2006 · Oxford University Press eBooks
  72. Genetische Risikofaktoren der Fibrogenese bei chronischen Lebererkrankungen*
    Frank Lammert, Siegfried Matern, Hermann E. Wasmuth · 2003 · Medizinische Klinik - Intensivmedizin und Notfallmedizin
  73. Genetics of Schizophrenia and Bipolar Affective Disorder: Strategies to Identify Candidate Genes
    David John Porteous, Kathryn Louise Evans, J. Kirsty Millar, Ben S. Pickard, Pippa A. Thomson, Rachel James, Stuart MacGregor, Naomi R. Wray, Peter M. Visscher, Walter J Muir et al. · 2003 · Cold Spring Harbor Symposia on Quantitative Biology
  74. The Genetics of Common Diseases: 10 Million Times as Hard
    David B. Goldstein, Gianpiero L. Cavalleri, Kourosh R. Ahmadi · 2003 · Cold Spring Harbor Symposia on Quantitative Biology
  75. Advances and challenges in quantitative delineation of the genetic architecture of complex traits
    Hua Tang, Zihuai He · 2021 · Quantitative Biology
  76. Philosophy of Physiology
    Maël Lemoine · 2025 · Cambridge University Press eBooks
  77. Predicting Disease-Related Subnetworks for Type 1 Diabetes Using a New Network Activity Score
    Shouguo Gao, Shuang Jia, Martin J. Hessner, Xujing Wang · 2012 · OMICS A Journal of Integrative Biology
  78. Epigenetic and Metabolic Regulation of Macrophages during Gout
    Isidoro Cobo, Jessica Murillo‐Saich, Mohnish Alishala, Mónica Gumá · 2023 · Gout Urate and Crystal Deposition Disease
  79. Germline mutations inRAD51,RAD51AP1,RAD51B,RAD51C,RAD51D,RAD52andRAD54Ldo not contribute to familial chronic lymphocytic leukemia
    Gabrielle S. Sellick, Sarah Fielding, Mobshra Qureshi, Daniel Catovsky, The International Familial CLL Cons, Richard S. Houlston · 2008 · Leukemia & lymphoma/Leukemia and lymphoma
  80. Association of lectin-like oxidized low density lipoprotein receptor 1 (OLR1) polymorphisms with late-onset Alzheimer disease in Han Chinese
    Zuo-Teng Wang, Xiao-Ling Zhong, Meng‐Shan Tan, Hui-Fu Wang, Chen‐Chen Tan, Wei Zhang, Zhan-Jie Zheng, Lingli Kong, Lan Tan, Li Jiang Sun · 2018 · Annals of Translational Medicine
  81. Problems and promises: How to tell the story of a Genome Wide Association Study?
    Catherine Heeney · 2021 · Studies in History and Philosophy of Science Part A
  82. Molecular genetics and attention in ADHD
    Deborah L. Grady, Robert K. Moyzis, James M. Swanson · 2005 · Clinical Neuroscience Research
  83. Personalizing Rare Disease Research: How Genomics is Revolutionizing the Diagnosis and Treatment of Rare Disease
    Marisa P Dolled-Filhart, Amanda Lordemann, William B. Dahl, Rajini Haraksingh, Chih-wen Ou-Yang, Jimmy Lin · 2012 · Personalized Medicine
  84. Experimental validation of data mined single nucleotide polymorphisms from several databases and consecutive dbSNP builds
    Hege Edvardsen, Grethe Irene Grenaker Alnæs, Anya Tsalenko, T Mulcahy, Anton Yuryev, Marie Lindersson, Sigbjørn Lien, Stig William Omholt, Ann-Christine Syvänen, Anne‐Lise Børresen‐Dale et al. · 2006 · Pharmacogenetics and Genomics
  85. Weighted likelihood inference of genomic autozygosity patterns in dense genotype data
    Alexandra Blant, Michelle Kwong, Zachary A. Szpiech, Trevor J. Pemberton · 2017 · BMC Genomics
  86. A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
    Marta Martín-Sánchez, Nereida Bravo‐Gil, María González‐del Pozo, Cristina Méndez‐Vidal, Elena Fernández-Suárez, Enrique Rodríguez-de-la-Rúa-Franch, Salud Borrego, Guillermo Antiñolo · 2020 · International Journal of Molecular Sciences
  87. The Inherited Genetic Component of Sporadic Pancreatic Adenocarcinoma
    Roger Laughlin Milne, William Greenhalf, Cristiane Murta‐Nascimento, Francisco X. Real, Núria Malats · 2009 · Pancreatology
  88. The epidemiology of rheumatoid arthritis and the use of linkage and association studies to identify disease genes
    Jane Worthington, Anne C Barton, Sally John · 2006 · Birkhäuser-Verlag eBooks
  89. Fabrication of 3‐D gel microarrays directly with raw polymerase chain reaction products by heat‐directed polymerization
    Zhiqiang Pan, Yanqiang Li, Qun Shan, Xiaohong Hong, Dongrui Zhou, Minghao Zhang, Ping Chen, Pengfeng Xiao, Zuhong Lu · 2008 · Electrophoresis
  90. Linkage Disequilibrium Mapping for Complex Disease Genes
    Andrew Thomas DeWan, Robert J. Klein, Josephine J. Hoh · 2007 · Methods in molecular biology
  91. The genetic puzzle of celiac disease
    Antonio Tursi · 2004 · Gastroenterology
  92. Will family studies return to prominence in human genetics and genomics? Rare variants and linkage analysis of complex traits
    Donald W. Bowden · 2011 · Genes & Genomics
  93. A METHODOLOGY BASED ON MOLECULAR INTERACTIONS AND PATHWAYS TO FIND CANDIDATE GENES ASSOCIATED TO DISEASES: ITS APPLICATION TO SCHIZOPHRENIA AND ALZHEIMER'S DISEASE
    María Elena Ochagavia, Jamilet Miranda, Marcelo Nazábal, ALEXANDER MARTIN, Lidia I. Novoa, Ricardo Bringas, Jorge Fernández-de-Cossío, Hanlet Camacho · 2011 · Journal of Bioinformatics and Computational Biology
  94. Phenotology of disease-linked proteins
    Jeffrey K. Myers, Lauren A. Beihoffer, Charles R. Sanders · 2004 · Human Mutation
  95. Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene
    Toyanji Joseph Punchaichira, Suman Prasad, Smita Neelkanth Deshpande, Bittianda Kuttapa Thelma · 2016 · Pharmacogenetics and Genomics
  96. POLYMORPHISM OF DNA MISMATCH REPAIR GENES IN ENDOMETRIAL CANCER
    Tomasz Popławski, Anna Sobczuk, Joanna Sarnik, Elżbieta Pawłowska, Janusz Błasiak · 2015 · Experimental Oncology
  97. Predicting Disease-related Associations by Heterogeneous Network Embedding
    Yun Xiong, Lu Ruan, Mengjie Guo, Chunlei Tang, Xiangnan Kong, Yangyong Zhu, Wei William Wang · 2018 · IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
  98. Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis
    Min Gu, Xin Yu, Liwen Fan, Guirong Zhu, Fan Yang, Shu Lou, Lan Ma, Yongchu Pan, Lin Wang · 2020 · Frontiers in Physiology
  99. Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism
    Sabine A. Fuchs, Magdaléna Harakaľová, Gijs W van Haaften, Peter M. van Hasselt, Edwin P. J. G. Cuppen, Roderick H.J. Houwen · 2012 · Metallomics
  100. Measuring molecular biomarkers in epidemiologic studies: laboratory techniques and biospecimen considerations
    Heidi S. Erickson · 2012 · Statistics in Medicine