Botstein D, Risch N: Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003, 33 (Suppl): 228-237. 10.1038/ng1090.
Article
CAS
PubMed
Google Scholar
Nelson SF, McCusker JH, Sander MA, Kee Y, Modrich P, Brown PO: Genomic mismatch scanning: a new approach to genetic linkage mapping. Nat Genet. 1993, 4 (1): 11-18. 10.1038/ng0593-11.
Article
CAS
PubMed
Google Scholar
Cotton RG, Scriver CR: Proof of "disease causing" mutation. Hum Mutat. 1998, 12 (1): 1-3. 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M.
Article
CAS
PubMed
Google Scholar
Mashal RD, Koontz J, Sklar J: Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases. Nat Genet. 1995, 9 (2): 177-183. 10.1038/ng0295-177.
Article
CAS
PubMed
Google Scholar
Youil R, Kemper BW, Cotton RG: Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc Natl Acad Sci USA. 1995, 92 (1): 87-91. 10.1073/pnas.92.1.87.
Article
PubMed Central
CAS
PubMed
Google Scholar
Till BJ, Burtner C, Comai L, Henikoff S: Mismatch cleavage by single-strand specific nucleases. Nucleic Acids Res. 2004, 32 (8): 2632-2641. 10.1093/nar/gkh599.
Article
PubMed Central
CAS
PubMed
Google Scholar
Oleykowski CA, Bronson Mullins CR, Godwin AK, Yeung AT: Mutation detection using a novel plant endonuclease. Nucleic Acids Res. 1998, 26 (20): 4597-4602. 10.1093/nar/26.20.4597.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lishanski A, Ostrander EA, Rine J: Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. Proc Natl Acad Sci USA. 1994, 91 (7): 2674-2678. 10.1073/pnas.91.7.2674.
Article
PubMed Central
CAS
PubMed
Google Scholar
Geschwind DH, Rhee R, Nelson SF: A biotinylated MutS fusion protein and its use in a rapid mutation screening technique. Genet Anal. 1996, 13 (4): 105-111.
Article
CAS
PubMed
Google Scholar
Wagner R, Debbie P, Radman M: Mutation detection using immobilized mismatch binding protein (MutS). Nucleic Acids Res. 1995, 23 (19): 3944-3948. 10.1093/nar/23.19.3944.
Article
PubMed Central
CAS
PubMed
Google Scholar
Smith J, Modrich P: Mutation detection with MutH, MutL, and MutS mismatch repair proteins. Proc Natl Acad Sci USA. 1996, 93 (9): 4374-4379. 10.1073/pnas.93.9.4374.
Article
PubMed Central
CAS
PubMed
Google Scholar
Doutriaux MP, Wagner R, Radman M: Mismatch-stimulated killing. Proc Natl Acad Sci USA. 1986, 83 (8): 2576-2578. 10.1073/pnas.83.8.2576.
Article
PubMed Central
CAS
PubMed
Google Scholar
Faham M, Cox DR: A novel in vivo method to detect DNA sequence variation. Genome Res. 1995, 5 (5): 474-482. 10.1101/gr.5.5.474.
Article
CAS
PubMed
Google Scholar
Casna NJ, Novack DF, Hsu MT, Ford JP: Genomic analysis II: isolation of high molecular weight heteroduplex DNA following differential methylase protection and Formamide-PERT hybridization. Nucleic Acids Res. 1986, 14 (18): 7285-7303. 10.1093/nar/14.18.7285.
Article
PubMed Central
CAS
PubMed
Google Scholar
Sanda AI, Ford JP: Genomic analysis I: inheritance units and genetic selection in the rapid discovery of locus linked DNA markers. Nucleic Acids Res. 1986, 14 (18): 7265-7283. 10.1093/nar/14.18.7265.
Article
PubMed Central
CAS
PubMed
Google Scholar
McAllister L, Penland L, Brown PO: Enrichment for loci identical-by-descent between pairs of mouse or human genomes by genomic mismatch scanning. Genomics. 1998, 47 (1): 7-11. 10.1006/geno.1997.5083.
Article
CAS
PubMed
Google Scholar
Cheung VG, Gregg JP, Gogolin-Ewens KJ, Bandong J, Stanley CA, Baker L, Higgins MJ, Nowak NJ, Shows TB, Ewens WJ, et al: Linkage-disequilibrium mapping without genotyping. Nat Genet. 1998, 18 (3): 225-230. 10.1038/ng0398-225.
Article
CAS
PubMed
Google Scholar
Cheung VG, Nelson SF: Genomic mismatch scanning identifies human genomic DNA shared identical by descent. Genomics. 1998, 47 (1): 1-6. 10.1006/geno.1997.5082.
Article
CAS
PubMed
Google Scholar
Mirzayans F, Mears AJ, Guo SW, Pearce WG, Walter MA: Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning. Am J Hum Genet. 1997, 61 (1): 111-119. 10.1086/513894.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lander ES: Finding similarities and differences among genomes. Nat Genet. 1993, 4 (1): 5-6. 10.1038/ng0593-5.
Article
CAS
PubMed
Google Scholar
Kruglyak L, McAllister L: Who needs genetic markers?. Nat Genet. 1998, 18 (3): 200-202. 10.1038/ng0398-200.
Article
CAS
PubMed
Google Scholar
Smirnov D, Bruzel A, Morley M, Cheung VG: Direct IBD mapping: identical-by-descent mapping without genotyping. Genomics. 2004, 83 (2): 335-345. 10.1016/j.ygeno.2003.08.002.
Article
CAS
PubMed
Google Scholar
Byers PH, Steiner RD: Osteogenesis imperfecta. Annu Rev Med. 1992, 43: 269-282. 10.1146/annurev.me.43.020192.001413.
Article
CAS
PubMed
Google Scholar
Sykes B, Ogilvie D, Wordsworth P, Wallis G, Mathew C, Beighton P, Nicholls A, Pope F, Thompson E, Tsipouras P, et al: Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet. 1990, 46 (2): 293-307.
PubMed Central
CAS
PubMed
Google Scholar
Byers PH, Shapiro JR, Rowe DW, David KE, Holbrook KA: Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest. 1983, 71 (3): 689-697. 10.1172/JCI110815.
Article
PubMed Central
CAS
PubMed
Google Scholar
Falk C, Schwartz R, Ramirez F, Tsipouras P: Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet. 1986, 38 (3): 269-279.
PubMed Central
CAS
PubMed
Google Scholar
Nicholls A, Pope F, Craig D: An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta. Br Med J (Clin Res Ed). 1984, 288 (6411): 112-113. 10.1136/bmj.288.6411.112.
Article
CAS
Google Scholar
Sykes B, Ogilvie D, Wordsworth P, Anderson , Jones N: Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet. 1986, 2 (8498): 69-72. 10.1016/S0140-6736(86)91609-0.
Article
CAS
PubMed
Google Scholar
McBride D, Streeten E, Mitchell B, Shuldiner A: Variable expressivity of a COL1A2 gly-610-cys mutation in a large Amish pedigree. Am J Hum Genet. 2002, 71 (Supplement): 1047-
Google Scholar
Wieder R, Wetmur JG: Factors affecting the kinetics of DNA reassociation in phenol-water emulsion at high DNA concentrations. Biopolymers. 1982, 21 (3): 665-677. 10.1002/bip.360210313.
Article
CAS
PubMed
Google Scholar
Kohne DE, Levison SA, Byers MJ: Room temperature method for increasing the rate of DNA reassociation by many thousandfold: the phenol emulsion reassociation technique. Biochemistry. 1977, 16 (24): 5329-5341. 10.1021/bi00643a026.
Article
CAS
PubMed
Google Scholar
Broman KW, Murray JC, Sheffield VC, White RL, Weber JL: Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet. 1998, 63 (3): 861-869. 10.1086/302011.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996, 380 (6570): 152-154. 10.1038/380152a0.
Article
CAS
PubMed
Google Scholar
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P: Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer. 1997, 20 (4): 399-407. 10.1002/(SICI)1098-2264(199712)20:4<399::AID-GCC12>3.0.CO;2-I.
Article
CAS
PubMed
Google Scholar
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet. 1998, 20 (2): 207-211. 10.1038/2524.
Article
CAS
PubMed
Google Scholar
Acharya S, Foster PL, Brooks P, Fishel R: The coordinated functions of the E. coli MutS and MutL proteins in mismatch repair. Mol Cell. 2003, 12 (1): 233-246. 10.1016/S1097-2765(03)00219-3.
Article
CAS
PubMed
Google Scholar
Brooks P: MutS-DNA interactions and DNase protection analysis with surface plasmon resonance. Methods in Molecular Biology: DNA Repair Protocols: Procaryotic Systems. Edited by: Vaughan P. 2000, Totowa, NJ: Humana, 152: 119-132.
Chapter
Google Scholar
Galio L, Bouquet C, Brooks P: ATP hydrolysis-dependent formation of a dynamic ternary nucleoprotein complex with MutS and MutL. Nucleic Acids Res. 1999, 27 (11): 2325-2331. 10.1093/nar/27.11.2325.
Article
PubMed Central
CAS
PubMed
Google Scholar
Botwell D, Sambrook J, eds: DNA Microarrays: A Molecular Cloning Manual. 2003, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
Brinkman RR, Dube MP, Rouleau GA, Orr AC, Samuels ME: Human monogenic disorders – a source of novel drug targets. Nat Rev Genet. 2006, 7 (4): 249-260. 10.1038/nrg1828.
Article
CAS
PubMed
Google Scholar
Antonarakis SE, Beckmann JS: Mendelian disorders deserve more attention. Nat Rev Genet. 2006, 7 (4): 277-282. 10.1038/nrg1826.
Article
CAS
PubMed
Google Scholar
Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA: Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays. Ann Hum Genet. 2008, 72 (Pt 2): 279-287. 10.1111/j.1469-1809.2007.00406.x.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kong A, Masson G, Frigge ML, Gylfason A, Zusmanovich P, Thorleifsson G, Olason PI, Ingason A, Steinberg S, Rafnar T, et al: Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet. 2008, 40 (9): 1068-1075. 10.1038/ng.216.
Article
PubMed Central
CAS
PubMed
Google Scholar
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Korkko J, Prockop DJ, De Paepe A, et al: Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007, 28 (3): 209-221. 10.1002/humu.20429.
Article
PubMed Central
CAS
PubMed
Google Scholar
Li L, Pettit AR, Gregory LS, Forwood MR: Regulation of bone biology by prostaglandin endoperoxide H synthases (PGHS): a rose by any other name. Cytokine Growth Factor Rev. 2006, 17 (3): 203-216. 10.1016/j.cytogfr.2006.01.005.
Article
PubMed
Google Scholar
Lau KH, Kapur S, Kesavan C, Baylink DJ: Up-regulation of the Wnt, estrogen receptor, insulin-like growth factor-I, and bone morphogenetic protein pathways in C57BL/6J osteoblasts as opposed to C3H/HeJ osteoblasts in part contributes to the differential anabolic response to fluid shear. J Biol Chem. 2006, 281 (14): 9576-9588. 10.1074/jbc.M509205200.
Article
CAS
PubMed
Google Scholar
McBride DJ, Carleton S, Phillips C, Kouznetsova N, Leikin S, Shapiro J, Mitchell B, Shuldiner A, Streeten E: COL1A2 G610C mice: a knock-in mouse model based on a large human OI kindred with phenotype variation. 9th International Meeting on Osteogenesis Imperfecta: 2005; Annapolis, Maryland: NICHD. 2005
Google Scholar
Carleton SM, McBride DJ, Carson WL, Huntington CE, Twenter KL, Rolwes KM, Winkelmann CT, Morris JS, Taylor JF, Phillips CL: Role of genetic background in determining phenotypic severity throughout postnatal development and at peak bone mass in Col1a2 deficient mice (oim). Bone. 2008, 42 (4): 681-694. 10.1016/j.bone.2007.12.215.
Article
PubMed Central
CAS
PubMed
Google Scholar
Altshuler D, Daly M, Kruglyak L: Guilt by association. Nat Genet. 2000, 26 (2): 135-137. 10.1038/79839.
Article
CAS
PubMed
Google Scholar
Risch NJ: Searching for genetic determinants in the new millennium. Nature. 2000, 405 (6788): 847-856. 10.1038/35015718.
Article
CAS
PubMed
Google Scholar
Donnelly P: Progress and challenges in genome-wide association studies in humans. Nature. 2008, 456 (7223): 728-731. 10.1038/nature07631.
Article
CAS
PubMed
Google Scholar
Curtis D, Vine AE, Knight J: A pragmatic suggestion for dealing with results for candidate genes obtained from genome wide association studies. BMC Genet. 2007, 8: 20-10.1186/1471-2156-8-20.
Article
PubMed Central
PubMed
Google Scholar
Zaykin DV, Zhivotovsky LA: Ranks of genuine associations in whole-genome scans. Genetics. 2005, 171 (2): 813-823. 10.1534/genetics.105.044206.
Article
PubMed Central
CAS
PubMed
Google Scholar
Leibon G, Rockmore DN, Pollak MR: A SNP streak model for the identification of genetic regions identical-by-descent. Stat Appl Genet Mol Biol. 2008, 7 (1): Article16-
PubMed
Google Scholar
Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol. 2008, 26 (10): 1135-1145. 10.1038/nbt1486.
Article
CAS
PubMed
Google Scholar
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, et al: Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008, 456 (7218): 53-59. 10.1038/nature07517.
Article
PubMed Central
CAS
PubMed
Google Scholar
Philippi A, Roschmann E, Tores F, Lindenbaum P, Benajou A, Germain-Leclerc L, Marcaillou C, Fontaine K, Vanpeene M, Roy S, et al: Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism. Mol Psychiatry. 2005, 10 (10): 950-960. 10.1038/sj.mp.4001704.
Article
CAS
PubMed
Google Scholar
Cairns J: The bacterial chromosome and its manner of replication as seen by autoradiography. J Mol Biol. 1963, 6 (3): 208-213.
Article
CAS
PubMed
Google Scholar
Beld M, Sol C, Goudsmit J, Boom R: Fractionation of nucleic acids into single-stranded and double-stranded forms. Nucleic Acids Res. 1996, 24 (13): 2618-2619. 10.1093/nar/24.13.2618.
Article
PubMed Central
CAS
PubMed
Google Scholar
Smalley SL, Woodward JA, Palmer CG: A general statistical model for detecting complex-trait loci by using affected relative pairs in a genome search. Am J Hum Genet. 1996, 58 (4): 844-860.
PubMed Central
CAS
PubMed
Google Scholar
Fisher RA: A fuller theory of "junctions" in inbreeding. Heredity. 1954, 8 (2): 187-197. 10.1038/hdy.1954.17.
Article
Google Scholar
Cannings C: The identity by descent process along the chromosome. Hum Hered. 2003, 56 (1–3): 126-130. 10.1159/000073740.
Article
PubMed
Google Scholar
Thomas A, Skolnick MH, Lewis CM: Genomic mismatch scanning in pedigrees. IMA J Math Appl Med Biol. 1994, 11 (1): 1-16. 10.1093/imammb/11.1.1.
Article
CAS
PubMed
Google Scholar
Donnelly KP: The probability that related individuals share some section of genome identical by descent. Theor Popul Biol. 1983, 23 (1): 34-63. 10.1016/0040-5809(83)90004-7.
Article
CAS
PubMed
Google Scholar
Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995, 11 (3): 241-247. 10.1038/ng1195-241.
Article
CAS
PubMed
Google Scholar
Jouquand S, Andre C, Cheron A, Hitte C, Chuat JC, Galibert F: Using the fluorogenic 5' nuclease assay for high-throughput detection of (CA)n repeats in radiation hybrid mapping. Biotechniques. 2000, 28 (4): 754-758.
CAS
PubMed
Google Scholar
Ginzinger DG, Godfrey TE, Nigro J, Moore DH, Suzuki S, Pallavicini MG, Gray JW, Jensen RH: Measurement of DNA copy number at microsatellite loci using quantitative PCR analysis. Cancer Res. 2000, 60 (19): 5405-5409.
CAS
PubMed
Google Scholar