Human Gene Mutation Database
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Human Gene Mutation Database | |
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| Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Hum Mutat 32(10):1137-43, 2011. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV,
Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG,
Daly M, Depristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs RA, 1000 Genomes Project*.
The functional spectrum of low-frequency coding variation.
Genome Biol 12(9):R84, 2011. PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR.
Loss of exon identity is a common mechanism of human inherited disease.
Genome Res 21(10):1563-71, 2011. PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Hamby SE, Thomas NS, Cooper DN, Chuzhanova N..
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease.
Hum Genomics 5(4):241-64, 2011. PubMed |
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| Fechtel K, Osterbur ML, Kehrer-Sawatzki H, Stenson PD, Cooper DN.
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.
Hum Genet epub 2011 PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Ivanov D, Hamby SE, Stenson PD, Phillips AD, Kehrer-Sawatzki H, Cooper DN, Chuzhanova N. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Hum Mutat epub 2011 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Necsulea A, Popa A, Cooper DN, Stenson PD, Mouchiroud D, Gautier C, Duret L. Meiotic recombination favors the spreading of deleterious mutations in human populations. Hum Mutat 32(2):198-206, 2011 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project*. Mapping copy number variation by population-scale genome sequencing. Nature 470(7332):59-65, 2011 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| 1000 Genomes Project Consortium*, Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature 467(7319):1061-73, 2010 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project*, Eichler EE. Diversity of human copy number variation and multicopy genes. Science 330(6004):641-6. 2010 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Stenson PD, Cooper DN. Prospects for the automated extraction of mutation data from the scientific literature. Hum Genomics 5(1):1-4, 2010. PubMed | Abstract | ||
| Zhang G, Pei Z, Krawczak M, Ball EV, Mort M, Kehrer-Sawatzki H, Cooper DN. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Hum Mutat 31(12):1286-93, 2010 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Cooper DN, Mort M, Stenson PD, Ball EV, Chuzhanova NA. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Hum Genomics 4(6):406-10, 2010. PubMed | |||
| Xin F, Myers S, Li YF, Cooper DN, Mooney SD, Radivojac P. Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease. Bioinformatics 26(16):1975-82, 2010 PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Cooper DN, Ball EV, Mort M. Chromosomal distribution of disease genes in the human genome. Genet Test Mol Biomarkers 14(4):441-46, 2010 PubMed | Abstract | Full Text (PDF) | |
| Cooper DN, Mort M. Do inherited disease genes have distinguishing functional characteristics? Genet Test Mol Biomarkers 14(3):289-91, 2010 PubMed | Abstract | Full Text (PDF) | |
| Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat 31(6):631-55, 2010 PubMed | Abstract | Full Text (PDF) | |
| Cooper DN. Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics 4(5):284-88, 2010 PubMed | Abstract | ||
| Quemener S, Chen JM, Chuzhanova N, Benech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrezet MP, Cooper DN, Ferec C. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat 31(4):421-28, 2010 PubMed | Abstract | Full Text (PDF) | |
| Mort M, Evani US, Krishnan VG, Kamati KK, Baenziger PH, Bagchi A, Peters BJ, Sathyesh R, Li B, Sun Y, Xue B, Shah NH, Kann MG, Cooper DN, Radivojac P, Mooney SD. In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Hum Mutat 31(3):335-46, 2010 PubMed | Abstract | Full Text (PDF) | |
| Antonarakis SE, Cooper DN. Human gene mutation: mechanisms and consequences. Chap. 10 in Human Genetics. Problems and Approaches. 4th Ed. MR Speicher, SE Antonarakis & AG Motulsky (Eds.). Springer, Heidelberg. pp319-364, 2010. | |||
| Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics 4(2):69-72, 2009. PubMed | Abstract | ||
| Roberta A. Pagon, Ada Hamosh, Johan den Dunnen, Helen V. Firth, Donna R. Maglott, Stephen T. Sherry, Michael Feolo, David Cooper, and Peter Stenson. Databases in Human and Medical Genetics. Chap. 29.3 in Vogel and Motulsky's Human Genetics: Problems and Approaches. M.R. Speicher et al. (Eds.), Springer-Verlag Berlin Heidelberg, pp.941-960, 2010. | |||
| Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P: Automated Inference of Molecular Mechanisms of Disease from Amino Acid Substitutions. Bioinformatics 25(21):2744-50, 2009. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Chen JM, Ferec C, Cooper DN: Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Hum Mutat 30(10):1435-48, 2009. PubMed | Abstract | Full Text (PDF) | |
| Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Ferec C, Wells RD, Cooper DN: Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat 30(8):1189-98, 2009. PubMed | Abstract | Full Text (PDF) | |
| Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, Edenberg HJ, Liu Y: Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res 19(3):381-94, 2009. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN: A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat 30(2)239-47, 2009. PubMed | Abstract | ||
| Stenson PD, Mort M, Ball E, Howells K, Phillips A, Thomas NST, Cooper DN: The Human Gene Mutation Database: 2008 update. Genome Med 1(1):13, 2009. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Bacolla A, Larson JE, Collins JR, Li J, Milosavljevic A, Stenson PD, Cooper DN, Wells RD: Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Res 18(10):1545-53, 2008. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Mort M, Ivanov D, Cooper DN, Chuzhanova NA: A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat 29(8):1037-47, 2008. PubMed | Abstract | Full Text (PDF) | |
| Radivojac P, Baenziger PH, Kann MG, Mort ME, Hahn MW, Mooney SD: Gain and loss of phosphorylation sites in human cancer. Bioinformatics 24(16):i241-7, 2008. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN: Human Gene Mutation Database: towards a comprehensive central mutation database. J Med Genet 45(2):124-6, 2008. PubMed | Extract | Full Text (HTML) | Full Text (PDF) |
| Chen JM, Cooper DN, Chuzhanova N, Ferec C, Patrinos GP: Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet 8(10):762-75, 2007. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL: Gain-of-glycosylation mutations. Curr Opin Genet Dev 17(3):245-51, 2007. PubMed | Full Text (HTML) | ||
| Rhesus Macaque Genome Sequencing and Analysis Consortium: Evolutionary and biomedical insights from the rhesus macaque genome. Science 316(5822):222-34, 2007. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
| Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN: Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28(2):150-8, 2007. PubMed | Abstract | Full Text (PDF) | |
| Antonarakis SE, Cooper DN. Mutations in human genetic
disease. Nature and consequences. Chap. 7 in Principles and Practice
of Medical Genetics. 5th Ed. DL Rimoin, JM Connor, RE Pyeritz, BR Korf
(Eds), Churchill Livingstone, Edinburgh, pp101-128, 2007. |
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| Chuzhanova N, Cooper DN, Ferec C, Chen JM: Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants.
Genomic Med 1(1-2):29-33, 2007. PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Chen JM, Ferec C, Cooper DN: Mechanism of Alu integration into the human genome.
Genomic Med 1(1-2):9-17, 2007. PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Han S, Cooper DN, Bowden PE: Utilization of a cryptic
noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis
bullosa simplex. Br J Dermatol 155(1):201-3, 2006. PubMed |
Abstract | Full Text (HTML) | Full text (PDF) |
| Chen JM, Ferec C, Cooper DN: A systematic analysis of
disease-associated variants in the 3' regulatory regions of human protein-coding
genes I: general principles and overview. Hum Genet 120(1):1-21,
2006. PubMed |
Abstract | Full Text (HTML) | Full Text (PDF) |
| Chen JM, Ferec C, Cooper DN: LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption. J Biomed Biotechnol 2006(1):56182, 2006. PubMed | PubMed Central | ||
| Chen JM, Ferec C, Cooper DN: A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants. Hum Genet 120(3):301-33, 2006. PubMed | Abstract | Full Text (HTML) | Full Text (PDF) |
Vogt G, Chapgier A, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Abel L, Cooper DN, Casanova JL: [Gains of glycosylation mutations]. Med Sci (Paris) 22(5): 480-2, 2006. PubMed |
Journal | ||
| Imtiaz A. Khan, Matthew Mort, Paul R. Buckland, Michael C. O’Donovan, David N. Cooper and Nadia A. Chuzhanova: In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity. In Silico Biology 6: 0003, 2006. | Abstract | Full Text (HTML) | |
| Baser ME; Contributors to the International NF2 Mutation Database. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat 27(4): 297-306, 2006. PubMed | Abstract | Full Text (PDF) | |
| Stylianos E. Antonarakis, Ewan Birney, Anthony J. Brookes, Lon Cardon, David N. Cooper, Johan T. den Dunnen, Simon Heath, Karen Kennedy, Hans Lehrach, George P. Patrinos, Stefan Schreiber, Kári Stefánsson, Johan van der Lei, Gert-Jan Van Ommen, Edgar Wingender, Richard Wooster: EU Workshop Report on European Database and Analysis Resources for Research in Human Genetic Variation. Brussels workshop, 2-3 March 2006. | Full Text | ||
| Abeysinghe SS, Chuzhanova N, Cooper DN: Gross deletions and translocations in human genetic disease. Genome Dyn 1:17-34, 2006. PubMed | Abstract | ||
| David N. Cooper, Peter D. Stenson and Nadia A. Chuzhanova: The human gene mutation database (HGMD) and its exploitation in the study of mutational mechanisms. Current Protocols in Bioinformatics, Unit 1.13, 2005. | |||
| Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN: Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat 26(4): 362-73, 2005. PubMed | Abstract | Full Text (PDF) | |
| Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA: Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 26(3): 205-13, 2005. PubMed | Abstract | Full Text (PDF) | |
| Chen JM, Stenson PD, Cooper DN, Ferec C: A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet 117(5): 411-427, 2005. PubMed | Abstract | ||
| Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN: Complex gene rearrangements caused by serial replication slippage. Hum Mutat 26:125-134, 2005. PubMed | Abstract | Full Text (PDF) | |
| Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J,
Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de
Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi
M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM,
Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM,
Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL:
Gains of glycosylation comprise an unexpectedly large group of pathogenic
mutations. Nat Genet 37(7): 692-700, 2005. PubMed
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Abstract | Full text (HTML) | Full text (PDF) |
| Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN: Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat 25(2): 207-221, 2005. PubMed | Abstract | Full text (PDF) | |
| Cooper DN, Stenson PD: The human gene mutation database.Appendix III, The Metabolic and Molecular Bases of Inherited Disease. 9th Edition. CR Scriver, AL Beaudet, WS Sly, D. Valle Eds. In press. McGraw-Hill, New York, 2005. | |||
| Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A 101(39): 14162-14167, 2004. PubMed | Abstract | Full text (HTML) | Full text (PDF) |
| Huang H, Winter EE, Wang H, Weinstock KG, Xing H, Goodstadt L, Stenson PD, Cooper DN, Smith D, Alba MM, Ponting CP, Fechtel K: Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol 5(7): R47, 2004. PubMed | Abstract | Full text (HTML) | Full text (PDF) |
| Rat Genome Sequencing Consortium: Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 428(6982): 493-521, 2004. PubMed | Abstract | Full text (HTML) | Full text (PDF) |
| Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN: Gross Rearrangement Breakpoint Database (GRaBD). Hum Mutat 23(3): 219-221, 2004. PubMed | Abstract | Full text (PDF) | |
| Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C: Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23(4) :343-57, 2004 . PubMed | Abstract | Full text (PDF) | |
| Antonarakis SE, Krawczak M, Cooper DN: Disease-causing mutations in the human genome. Eur J Pediatr 159 Suppl 3:S173-8, 2004. PubMed | |||
| Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN: Human Gene Mutation Database (HGMD®): 2003 update. Hum Mutat 21(6): 577-581, 2003. PubMed | Abstract | Full text (PDF) | |
| Abeysinghe SS, Chuzhanova N, Krawczak M, Ball
EV, Cooper DN: Translocation and gross deletion breakpoints in
human inherited disease and cancer I: Nucleotide composition and recombination-associated
motifs. Hum Mutat 22(3): 229-244, 2003. PubMed |
Abstract | Full text (PDF) | |
| Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN: Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat 22(3): 245-251, 2003. PubMed | Abstract | Full text (PDF) | |
| Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN: Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 21(1): 28-44, 2003. PubMed | Abstract | Full text (PDF) | |
| Antonarakis SE, Cooper DN: Mutations in human genetic disease: nature and consequences. Nature Encyclopaedia of the Human Genome. Vol 4, pp 227-253. Nature Publishing Group, London, 2003. | |||
| Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG: Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet 112(3): 303-309, 2003. PubMed | Abstract | ||
| Terp BN, Cooper DN, Christensen IT, Jorgensen FS, Bross P, Gregersen N, Krawczak M: Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. Hum Mutation 20(2): 98-109, 2002. PubMed | Abstract | Full Text (PDF) | |
| Antonarakis SE, Krawczak M, Cooper DN: The nature and mechanisms of human gene mutation. Chapter 2 in The Genetic Basis of Human Cancer. 2nd edition. B Vogelstein, KW Kinzler, Eds. pp 7-41. McGraw-Hill, New York, 2002. | |||
| Antonarakis SE, Krawczak M, Cooper DN: Mutations in human disease: nature and consequences. Chapter 5 in Principles and Practice of Medical Genetics. 4th edition. DL Rimoin, JM Connor, RE Pyeritz, BR Korf, Eds. pp 83-103. Churchill Livingstone, Edinburgh, 2002. | |||
| Antonarakis SE, Krawczak M, Cooper DN: The nature and mechanisms of human gene mutation. Chapter 13 in The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. CR Scriver, AL Beaudet, WS Sly, D Valle, Eds. pp 343-377. McGraw-Hill, New York, 2001. | |||
| Krawczak M, Chuzanova NA, Stenson PD, Johansen BN, Ball EV, Cooper DN: Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Hum Genet 107(4): 362-365, 2000. PubMed |
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Full text (PDF) | |
| Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN: Human Gene Mutation Database - a biomedical information and research resource. Hum Mutat 15(1): 45-51, 2000. PubMed | Abstract | Full text (PDF) | |
| Antonarakis SE, Krawczak M, Cooper DN: Disease-causing mutations in the human genome. Eur J Pediatr 159: Suppl 3: S173-S178, 2000. PubMed | Abstract | ||
| Krawczak M, Ball EV, Stenson PD, Cooper DN: HGMD: The human gene mutation database. Chapter 8 in Bioinformatics; Databases and Systems. Ed. SI Letovsky. pp 99-104, Kluwer Academic Publishers, Boston, 1999. | |||
| Wacey AI, Cooper DN, Liney D, Hovig E, Krawczak M: Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53. Hum Genet 104(1): 15-22, 1999. PubMed | Abstract | Full text (PDF) | |
| Cooper DN, Ball EV, Krawczak M: The human gene mutation database. Nucleic Acids Res 26(1): 285-287, 1998. PubMed | Abstract | Full text (HTML) | Full text (PDF) |
| Krawczak M, Ball EV, Cooper DN: Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet 63: 474-488, 1998. PubMed | Abstract | Full text (HTML) | Full text (PDF) |
| Cooper DN, Krawczak M, Antonarakis SE: The nature and mechanisms of human gene mutation. Chapter 3 in The Genetic Basis of Human Cancer. B Vogelstein, KW Kinzler, Eds. pp 65-94. McGraw-Hill, New York, 1998. | |||
| Krawczak M, Cooper DN: The human gene mutation database. Trends Genet 13(3): 121-2, 1997. PubMed | |||
| Krawczak M, Cooper DN: The human gene mutation database (HGMD). Genome Digest 3: 7-8, 1996. | |||
| Cooper DN, Krawczak M: Human gene mutation database. Hum Genet 98(5): 629, 1996. PubMed | Abstract | Full text (PDF) | |
| Krawczak M, Cooper DN: Core database. Nature 374 (6521): 402, 1995. PubMed | |||
| Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90(1-2): 41-54, 1992. PubMed | |||
| Cooper DN, Krawczak M: Mechanism of insertional mutagenesis in human genes causing genetic disease. Human Genetics 87: 409-415, 1991. PubMed | |||
| Krawczak M, Cooper DN: Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86: 425-441, 1991. PubMed | |||
| Cooper DN, Krawczak M: The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 85: 55-74, 1990. PubMed | |||
| Reference |
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| Sebastiani et al: Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Front Genet 2:90, 2012. | Abstract | Full Text (HTML) | |
| Xiao L, Sun W, Zhang J, Zhou Y, Chen L, Gao H, Sirois P, Li K: An excess of G over C nucleotides in mutagenesis of human genetic diseases. Mol Biotechnol 48(1):1-6, 2011. PubMed | Abstract | ||
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