| Publications (total 57) Less... | - Fain JS et al., "Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation of a Segmental Duplication in the Human X Chromosome.", Cytogenet Genome Res, 2019;159(1):12-18
More...- Fain JS et al., "Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation of a Segmental Duplication in the Human X Chromosome.", Cytogenet Genome Res, 2019;159(1):12-18
- Mohajeri K et al., "Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.", Genome Res, 2016 Nov;26(11):1453-1467
- Antonacci F et al., "Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.", Nat Genet, 2014 Dec;46(12):1293-302
- Genovese G et al., "Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.", Am J Hum Genet, 2013 Sep 5;93(3):411-21
- Mueller JL et al., "Independent specialization of the human and mouse X chromosomes for the male germ line.", Nat Genet, 2013 Sep;45(9):1083-7
- Floutsakou I et al., "The shared genomic architecture of human nucleolar organizer regions.", Genome Res, 2013 Dec;23(12):2003-12
- Watson CT et al., "Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation.", Am J Hum Genet, 2013 Apr 4;92(4):530-46
- Genovese G et al., "Using population admixture to help complete maps of the human genome.", Nat Genet, 2013 Apr;45(4):406-14, 414e1-2
- Falconer E et al., "DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution.", Nat Methods, 2012 Nov;9(11):1107-12
- Itsara A et al., "Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.", Am J Hum Genet, 2012 Apr 6;90(4):599-613
- Lemmers RJ et al., "A unifying genetic model for facioscapulohumeral muscular dystrophy.", Science, 2010 Sep 24;329(5999):1650-3
- Antonacci F et al., "A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.", Nat Genet, 2010 Sep;42(9):745-50
- Lemmers RJ et al., "Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.", Am J Hum Genet, 2010 Mar 12;86(3):364-77
- Teague B et al., "High-resolution human genome structure by single-molecule analysis.", Proc Natl Acad Sci U S A, 2010 Jun 15;107(24):10848-53
- Pyo CW et al., "Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.", PLoS One, 2010 Dec 29;5(12):e15115
- Garber M et al., "Closing gaps in the human genome using sequencing by synthesis.", Genome Biol, 2009;10(6):R60
- Neafsey P et al., "Genetic polymorphism in cytochrome P450 2D6 (CYP2D6): Population distribution of CYP2D6 activity.", J Toxicol Environ Health B Crit Rev, 2009;12(5-6):334-61
- Xue Y et al., "Adaptive evolution of UGT2B17 copy-number variation.", Am J Hum Genet, 2008 Sep;83(3):337-46
- Zody MC et al., "Evolutionary toggling of the MAPT 17q21.31 inversion region.", Nat Genet, 2008 Sep;40(9):1076-83
- Horton R et al., "Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project.", Immunogenetics, 2008 Jan;60(1):1-18
- Young JM et al., "Extensive copy-number variation of the human olfactory receptor gene family.", Am J Hum Genet, 2008 Aug;83(2):228-42
- Cole CG et al., "Finishing the finished human chromosome 22 sequence.", Genome Biol, 2008;9(5):R78
- Lemmers RJ et al., "Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.", Am J Hum Genet, 2007 Nov;81(5):884-94
- Zipfel PF et al., "Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.", PLoS Genet, 2007 Mar 16;3(3):e41
- Makoff AJ et al., "Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.", Genome Biol, 2007;8(6):R114
- Gregory SG et al., "The DNA sequence and biological annotation of human chromosome 1.", Nature, 2006 May 18;441(7091):315-21
- Zody MC et al., "Analysis of the DNA sequence and duplication history of human chromosome 15.", Nature, 2006 Mar 30;440(7084):671-5
- Taylor TD et al., "Human chromosome 11 DNA sequence and analysis including novel gene identification.", Nature, 2006 Mar 23;440(7083):497-500
- Scherer SE et al., "The finished DNA sequence of human chromosome 12.", Nature, 2006 Mar 16;440(7082):346-51
- Nusbaum C et al., "DNA sequence and analysis of human chromosome 8.", Nature, 2006 Jan 19;439(7074):331-5
- Muzny DM et al., "The DNA sequence, annotation and analysis of human chromosome 3.", Nature, 2006 Apr 27;440(7088):1194-8
- Zody MC et al., "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.", Nature, 2006 Apr 20;440(7087):1045-9
- Nusbaum C et al., "DNA sequence and analysis of human chromosome 18.", Nature, 2005 Sep 22;437(7058):551-5
- Ross MT et al., "The DNA sequence of the human X chromosome.", Nature, 2005 Mar 17;434(7031):325-37
- Kirsch S et al., "Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.", Genome Res, 2005 Feb;15(2):195-204
- Lewis SM et al., "New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.", Nucleic Acids Res, 2005 Dec 9;33(22):e186
- Hillier LW et al., "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.", Nature, 2005 Apr 7;434(7034):724-31
- Schmutz J et al., "The DNA sequence and comparative analysis of human chromosome 5.", Nature, 2004 Sep 16;431(7006):268-74
- International Human Genome Sequencing Consortium "Finishing the euchromatic sequence of the human genome.", Nature, 2004 Oct 21;431(7011):931-45
- Humphray SJ et al., "DNA sequence and analysis of human chromosome 9.", Nature, 2004 May 27;429(6990):369-74
- Deloukas P et al., "The DNA sequence and comparative analysis of human chromosome 10.", Nature, 2004 May 27;429(6990):375-81
- Zanger UM et al., "Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry.", Naunyn Schmiedebergs Arch Pharmacol, 2004 Jan;369(1):23-37
- Martin J et al., "The sequence and analysis of duplication-rich human chromosome 16.", Nature, 2004 Dec 23;432(7020):988-94
- Dunham A et al., "The DNA sequence and analysis of human chromosome 13.", Nature, 2004 Apr 1;428(6982):522-8
- Grimwood J et al., "The DNA sequence and biology of human chromosome 19.", Nature, 2004 Apr 1;428(6982):529-35
- Mungall AJ et al., "The DNA sequence and analysis of human chromosome 6.", Nature, 2003 Oct 23;425(6960):805-11
- Skaletsky H et al., "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.", Nature, 2003 Jun 19;423(6942):825-37
- Hillier LW et al., "The DNA sequence of human chromosome 7.", Nature, 2003 Jul 10;424(6945):157-64
- Heilig R et al., "The DNA sequence and analysis of human chromosome 14.", Nature, 2003 Feb 6;421(6923):601-7
- Lemmers RJ et al., "Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.", Nat Genet, 2002 Oct;32(2):235-6
- Kuroda-Kawaguchi T et al., "The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.", Nat Genet, 2001 Nov;29(3):279-86
- Lander ES et al., "Initial sequencing and analysis of the human genome.", Nature, 2001 Feb 15;409(6822):860-921
- Deloukas P et al., "The DNA sequence and comparative analysis of human chromosome 20.", Nature, 2001 Dec 20-27;414(6866):865-71
- Hattori M et al., "The DNA sequence of human chromosome 21.", Nature, 2000 May 18;405(6784):311-9
- Andrews RM et al., "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.", Nat Genet, 1999 Oct;23(2):147
- Dunham I et al., "The DNA sequence of human chromosome 22.", Nature, 1999 Dec 2;402(6761):489-95
- Anderson S et al., "Sequence and organization of the human mitochondrial genome.", Nature, 1981 Apr 9;290(5806):457-65
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