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Peer Reviewed Papers, Books, Chapters

Year Title Citation Authors Review type Summary Keywords File filename File mime type
1. 2010 Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children Am J Clin Nutr. 91:191-199.
2. 2010 International Network of Cancer Genome Projects Nature 465: 993-998 .
3. 2009 Next-Generation Gap. Nature Meth. Supplement, Next-generation sequencing data analysis. Volume 6, No.11s:S2-S5.
4. 2009 The MGC Project Team Genome Res. Accepted.
5. 2009 SNP-mediated translational suppression of ERManI modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency Hepatology 50: 275-281; early online access march 19, 2009
6. 2009 Toronto International Data Release Workshop Opinion: Prepublication Data Sharing. Nature 461: 168-170.
7. 2009 Next-Generation Sequencing: A New Revolution in Molecular Diagnostics? Clin. Chem. 55: 1-5.
8. 2008 Massively parallel bisulphate pyrosequencing reveals the molecular complexity of breast cancer associated cytosine methylation patterns obtained from tissue and serum DNA Genome Res. 18:19-29.
9. 2007 Demographic histories and patterns of linkage disequilibrium in Chinese and Indian rhesus macaques. Science 316:240-3.
10. 2007 Identification of novel high-frequency DNA methylation changes in breast cancer PLoS One 2:e1314.
11. 2007 MethylScreen: DNA methylation density monitoring using quantitative PCR Biotechniques 43:683-693
12. 2007 Characterizing the cancer genome in lung adenocarcinoma Nature 450:893-898
13. 2006 Resources for genetic and genomic studies of Xenopus Methods Mol Biol. 322:1-16
14. 2006 Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation Am. J. Hum. Genet. 78:303-14.
15. 2006 Comprehensive DNA methylation profiling in a human cancer genome identifies novel epigenetic targets Carcinogenesis 27:2409-2423.
16. 2005 Punctuated duplication seeding events during the evolution of human chromosome 2p11. Genome Res. 15:914-927.
17. 2005 Lineage-specific expansions of retroviral insertions within the genomes of African Great Apes but not Humans and Orangutans PLoS Biol. 4: 1-11.
18. 2005 Sand DNA—A Genetic Library of Life at the Water s Edge Marine Ecology Progress Series 301: 9-22.
19. 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4 Nature 434:724-731.
20. 2004 Large-scale RT-PCR recovery of full-length cDNA clones Biotechniques 690: 698-700.
21. 2004 Levodopa-Responsive aromatic L-amino acid decarboxylase deficiency Ann Neurol. 55:435-438.
22. 2004 Rat Genome Sequencing Project Consortium. (2004). Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 428:493-521.
23. 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121-2127.
24. 2004 Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature 432: 695-716
25. 2004 A physical map of the chicken genome Nature 432: 761-764
26. 2004 In Silico Genetics: Identification of a Functional Element Regulating H2-E Gene Expression. Science 306: 609-695.
27. 2004 The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003;68:13-22.
28. 2004 Fosmid-Based Physical Mapping of the Histoplasma capsulatum.Genome Genome Res. 14:1603-1609.
29. 2004 Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res. 14:766-779.
30. 2003 Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol. 9, 1463-1479
31. 2003 Software for automated analysis of DNA fingerprinting gels Genome Res. 5, 940-953.
32. 2003 The DNA sequence and analysis of human chromosome 14. Nature 421, 601-607.
33. 2003 A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130, 4665-4672.
34. 2003 The DNA sequence of human chromosome 7. Nature 424, 157-164.
35. 2003 The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes Nature 6942, 825-837.
36. 2002 What is finished, and why does it matter Genome Res. 12, 669-671
37. 2002 Initial sequencing and comparative analysis of the mouse genome Nature 420, 520-562.
38. 2002 A physical map of the mouse genome. Nature 419, 743-750.
39. 2002 Progress in sequencing the mouse genome Genesis 31, 137-141.
40. 2001 A map of human genome sequence variation containing 1.4 million single nucleotide polymorphisms Nature 409, 928-933.
41. 2001 A physical map of the human Y chromosome. Nature 409, 943-945
42. 2001 A high resolution STS-content based map of human chromosome 12 Nature 409, 945-946
43. 2001 The LN54 radiation hybrid map of zebrafish expressed sequences. Genome Res. 12, 2127-2132.
44. 2001 Initial sequencing and analysis of the human genome Nature 409, 860-921.
45. 2000 The syntenic relationship of the zebrafish and human genomes. Genome Res. 10, 1351-1358.
46. 1999 The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map Genome Res. 9, 568-574.
47. 1999 Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum. Molec. Genet. 8, 313-321.
48. 1999 Radiation hybrid mapping of the zebrafish genome Proc. Natl. Acad. Sci. USA 17, 9745-9750
49. 1999 Somatic cell genetics and radiation hybrid mapping.In Genome Analysis: A Laboratory Manual, Volume 4: Mapping Genomes, eds pp. 259-302 Cold Spring Harbor Laboratory Press, New York
50. 1999 Screening Large-Insert Libraries by Hybridization. In Current Protocols in Human Genetics, eds pp. 5.6.1-5.6.52 John Wiley and Sons, New York
51. 1999 Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT) Biochim. Biophys. Acta. 1445, 330-336.
52. 1999 A map for sequence analysis of the Arabidopsis thaliana genome Nature Genetics 22, 265-270.
53. 1999 A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum. Molec. Genet. 8,1177-1183.
54. 1998 Toward a complete human genome sequence. Genome Res. 8, 1097-1108
55. 1998 Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval Biochem. Biophys. Res. Commun. 242, 685-691
56. 1998 Molecular cytogentic delineation of the critical deleted region in 5q- syndrome. Genes Genes Chromosomes Cancer 22, 251-256.
57. 1997 Sequence Ready - or Not? Genome Res., 7, 1111-1113.
58. 1997 High throughput fingerprint analysis of large-insert clones Genome Res., 7, 1072-1084.
59. 1997 A Radiation Hybrid Map of Human Chromosome 5 with Integration of Cytogenetic, Genetic and Transcript Maps Genome Res., 7, 897-909.
60. 1996 Characterization of delta-Sarcoglycan, a Novel Component of the Oligomeric Sarcoglycan Complex Involved in Limb-Girdle Muscular Dystrophy J. Biol. Chem. 271, 32321-32329.
61. 1996 Regional Assignment and Tissue-Specific Patterns of Expression of Twenty-one Expressed Sequence Tags (ESTs) on Human Chromosome 5 Genomics 33, 128-130.
62. 1996 The Generation and Regional Localization of 303 New Chromosome 5 Sequence-Tagged Sites Genomics 32 32, 91-96
63. 1995 Molecular Cloning of the Microfibrillar Protein MFAP3 and Assignment of the Gene to Human Chromosome 5q32-q33.2 Genomics 26, 47-54.
64. 1995 Mapping the Human Corticotrophin Releasing Hormone Binding Protein Gene (CRHBP) to the Long Arm of Chromosome 5 (5q11.2-q13.3). Genomics 25, 325-327.
65. 1995 Human Chromosome-Specific cDNA Libraries: New Tools for Gene Identification and Genome Annotation. Genome Res. 2, 185-194.
66. 1995 The Human and Mouse Receptors for Hyaluronan-Mediated Motility, RHAMM, Genes (HMMR) Map to Human Chromosome 5q33.2-qter and Mouse Chromosome 11 Genomics 30, 115-117.
67. 1994 Use of Genetic and Physical Mapping to Locate the Spinal Muscular Atrophy Locus Between Two New Highly Polymorphic DNA Markers. Am. J. Hum. Genet. 54, 687-694.
68. 1994 Assignment of the Human aCatenin Gene (CTNNA1) to chromosome 5q21-q22 Genomics 19, 188-190
69. 1994 Human Aldehyde Dehydrogenase:Chromosomal Assignment of the Gene for the Isozyme that Metabolizes tAminobutyraldehyde Hum. Genet. 93, 211-212.
70. 1994 A Multicopy Dinucleotide Marker that Maps Close to the Spinal Muscular Atrophy Gene. Genomics 21, 394-402
71. 1994 Association Between Ag-1CA Alleles and Severity of Childhood-onset Spinal Muscular Atrophy Am. J. Hum. Genet. 55, 1218-1229
72. 1994 Genes Encoding Adrenergic Receptors Are Not Clustered on the Long Arm of Human Chromosome 5 Cytogenet. and Cell Genet. 67, 69-74.
73. 1993 A Contig of Non-chimaeric YACs containing the Spinal Muscular Atrophy Gene in 5q13. Hum. Mol. Genet. 2, 1161-1167
74. 1993 Molecular Cloning of the Human Proto-oncogene Wnt-5A and Mapping of the Gene (WNT5A) to Chromosome 3p14-p21 Genomics 18, 249-260.
75. 1993 High Resolution Physical Map of the Region Surrounding the Spinal Muscular Atrophy Gene Hum. Mol. Genet. 2, 1169-1176
76. 1993 Linkage Mapping Detects 2 Secondary Microdeletions in Cell Hybrid HHW1064, Used to Isolate DNA Probes From Within 5q11.2-q13.3. Cytogenet. Cell Genet. 64, 46-48
77. 1993 Physical and Genetic Mapping of a Human Apical Epithelial NA+/H+ Exchanger (NHE3) Isoform to Chromosome-5p15.3. Genomics 15, 668-672
78. 1992 Primary Structure, Chromosomal Localization, and Functional Expression of a Voltage-Gated Sodium Channel from Human Brain Proc. Natl. Acad. Sci. USA 89, 8220-8224.
79. 1992 Mapping of a Human Brain Voltage-gated Calcium Channel to Human Chromosome 12p13-pter. Genomics 14, 1092-1094.
80. 1992 Mapping of the Versican Proteoglycan Gene (CSPG2) to the Long arm of Human Chromosome 5 (5q12-5q14). Genomics 14, 845-851
81. 1992 The Shaw-Related Potassium-Channel Gene, Kv3.1, on Human Chromosome 11, Encodes the Typel K+ Channel in T Cells J. Biol. Chem. 267, 20971-20979.
82. 1992 Related subunits of NF-kB Map to Two Distinct Loci Associated with Translocations in Leukemia, NFKB1 and NFKB2. Genomics 13, 287-292
83. 1992 Localization of the D5 Dopamine Receptor gene to Human Chromosome 4p15.1-p15.3, Centromeric to the Huntington's Disease Locus. Genomics 12, 510-516.
84. 1992 Genomic Organization, Nucleotide Sequence, and Cellular Distribution of a Shaw-related Potassium Channel Gene, Kv3.3, and Mapping of KV3.3 and KV3.4 to Human Chromosomes 19 and 1. Genomics 12, 190-196.
85. 1992 Chromosomal Localization of Human Glutamate Receptor Genes. J. Neuroscience 12, 2555-2562
86. 1992 Somatic Cell Mapping of the Human Cyclophilin B Gene (PPIB) to Chromosome 15 Cytogenet. Cell Genet. 60, 219-221.
87. 1992 Human Dopa Decarboxylase: Localization to Human Chromosome 7p11 and Characterization of Hepatic cDNAs Genomics 13, 469-471
88. 1991 Bone Morphogenetic Protein: Chromosomal Localization of Human Genes for BMP1, BMP2 and BMP3 Genomics 9, 283-289
89. 1991 Mapping of Human Chromosome 5 Microsatellite DNA Polymorphisms Genomics 11, 695-700.
90. 1991 Identification of Deletion Mutations and Three New Genes at the Familial Polyposis Locus Cell 66, 601-613.
91. 1991 Identification and Characterization of the Familial Adenomatous Polyposis Gene. Cell 66, 589-600.
92. 1989 Fructose Mediated Crosslinking of Proteins.In Progress in Clinical and Biological Research, Vol. 304: The Maillard Reaction in Aging, Diabetes and Nutrition.Eds Baynes, J.W. and Monnier, V.M.Alan R. Liss Inc., New York, NY, 163-170
93. 1988 Role of Fructose in Glycation and Cross-linking of Proteins. Biochemistry 27, 1901-1907
94. 1988 Evidence for Glycation of Horse Liver Alcohol Dehydrogenase In Vivo. Biochem. Biophys. Res. Comm. 152, 711-716
95. 1987 Analysis of Glycated Amino Acids by High-Performance Liquid Chromatography of Phenylthiocarbamyl Derivatives Anal. Biochem. 164, 547-553
96. 1987 Synthetic Routes to N-(1-Deoxyfructos-1 yl)amino Acids by Way of Reductive Amination of Hexosuloses Carbohydr. Res. 161, 123-130
97. 1986 Non-enzymic Glycation of Proteins; Analysis of N-(1-Deoxyhexitol-1 yl)amino Acids by High-Performance Liquid Chromatography Carbohydr. Res. 153, 285-293.


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