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Evan Eichler

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Physiology

Gene Duplication

Genes & Molecular Sequences

Phenomena

Molecular Evolution

Anatomy

Concepts & Ideas

Living Beings

Procedures

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Publications

TOP 3
Manolio Teri A; Collins Francis S; Cox Nancy J; Goldstein David B; Hindorff Lucia A; Hunter David J; McCarthy Mark I; Ramos Erin M; Cardon Lon R; Chakravarti Aravinda; Cho Judy H; Guttmacher Alan E; Kong Augustine; Kruglyak Leonid; Mardis Elaine; Rotimi Charles N; Slatkin Montgomery; Valle David; Whittemore Alice S; Boehnke Michael; Clark Andrew G; Eichler Evan E; Gibson Greg; Haines Jonathan L; Mackay Trudy F C; McCarroll Steven A; Visscher Peter M
Finding the missing heritability of complex diseases.
Marques-Bonet Tomas; Girirajan Santhosh; Eichler Evan E
The origins and impact of primate segmental duplications.
Alkan Can; Kidd Jeffrey M; Marques-Bonet Tomas; Aksay Gozde; Antonacci Francesca; Hormozdiari Fereydoun; Kitzman Jacob O; Baker Carl; Malig Maika; Mutlu Onur; Sahinalp S Cenk; Gibbs Richard A; Eichler Evan E
Personalized copy number and segmental duplication maps using next-generation sequencing.

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All Publications

2009: Manolio Teri A; Collins Francis S; Cox Nancy J; Goldstein David B; Hindorff Lucia A; Hunter David J; McCarthy Mark I; Ramos Erin M; Cardon Lon R; Chakravarti Aravinda; Cho Judy H; Guttmacher Alan E; Kong Augustine; Kruglyak Leonid; Mardis Elaine; Rotimi Charles N; Slatkin Montgomery; Valle David; Whittemore Alice S; Boehnke Michael; Clark Andrew G; Eichler Evan E; Gibson Greg; Haines Jonathan L; Mackay Trudy F C; McCarroll Steven A; Visscher Peter M
Finding the missing heritability of complex diseases.
Nature 2009;461(7265):747-53.
2009: Marques-Bonet Tomas; Girirajan Santhosh; Eichler Evan E
The origins and impact of primate segmental duplications.
Trends in genetics : TIG 2009;25(10):443-54.
2009: Alkan Can; Kidd Jeffrey M; Marques-Bonet Tomas; Aksay Gozde; Antonacci Francesca; Hormozdiari Fereydoun; Kitzman Jacob O; Baker Carl; Malig Maika; Mutlu Onur; Sahinalp S Cenk; Gibbs Richard A; Eichler Evan E
Personalized copy number and segmental duplication maps using next-generation sequencing.
Nature genetics 2009;41(10):1061-7.
2009: Dibbens Leanne M; Mullen Saul; Helbig Ingo; Mefford Heather C; Bayly Marta A; Bellows Susannah; Leu Costin; Trucks Holger; Obermeier Tanja; Wittig Michael; Franke Andre; Caglayan Hande; Yapici Zuhal; Sander Thomas; Eichler Evan E; Scheffer Ingrid E; Mulley John C; Berkovic Samuel F
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Human molecular genetics 2009;18(19):3626-31.
2009: Ng Sarah B; Turner Emily H; Robertson Peggy D; Flygare Steven D; Bigham Abigail W; Lee Choli; Shaffer Tristan; Wong Michelle; Bhattacharjee Arindam; Eichler Evan E; Bamshad Michael; Nickerson Deborah A; Shendure Jay
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature 2009;461(7261):272-6.
2009: Mefford Heather C; Cooper Gregory M; Zerr Troy; Smith Joshua D; Baker Carl; Shafer Neil; Thorland Erik C; Skinner Cindy; Schwartz Charles E; Nickerson Deborah A; Eichler Evan E
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
Genome research 2009;19(9):1579-85.
2009: Cellamare A; Catacchio C R; Alkan C; Giannuzzi G; Antonacci F; Cardone M F; Della Valle G; Malig M; Rocchi M; Eichler E E; Ventura M
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset.
Molecular biology and evolution 2009;26(8):1889-900.
2009: Smith Jeramiah J; Antonacci Francesca; Eichler Evan E; Amemiya Chris T
Programmed loss of millions of base pairs from a vertebrate genome.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(27):11212-7.
2009: Hormozdiari Fereydoun; Alkan Can; Eichler Evan E; Sahinalp S Cenk
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes.
Genome research 2009;19(7):1270-8.
2009: Antonacci Francesca; Kidd Jeffrey M; Marques-Bonet Tomas; Ventura Mario; Siswara Priscillia; Jiang Zhaoshi; Eichler Evan E
Characterization of six human disease-associated inversion polymorphisms.
Human molecular genetics 2009;18(14):2555-66.
2009: Mefford Heather C; Eichler Evan E
Duplication hotspots, rare genomic disorders, and common disease.
Current opinion in genetics & development 2009;19(3):196-204.
2009: Zhao Yongzhong; Marotta Michael; Eichler Evan E; Eng Charis; Tanaka Hisashi
Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes.
PLoS genetics 2009;5(5):e1000472.
2009: Liu George E; Alkan Can; Jiang Lu; Zhao Shaying; Eichler Evan E
Comparative analysis of Alu repeats in primate genomes.
Genome research 2009;19(5):876-85.
2009: Landsverk Megan L; Ruzzo Elizabeth K; Mefford Heather C; Buysse Karen; Buchan Jillian G; Eichler Evan E; Petty Elizabeth M; Peterson Esther A; Knutzen Dana M; Barnett Karen; Farlow Martin R; Caress Judy; Parry Gareth J; Quan Dianna; Gardner Kathy L; Hong Ming; Simmons Zachary; Bird Thomas D; Chance Phillip F; Hannibal Mark C
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Human molecular genetics 2009;18(7):1200-8.
2009: Bekpen Cemalettin; Marques-Bonet Tomas; Alkan Can; Antonacci Francesca; Leogrande Maria Bruna; Ventura Mario; Kidd Jeffrey M; Siswara Priscillia; Howard Jonathan C; Eichler Evan E
Death and resurrection of the human IRGM gene.
PLoS genetics 2009;5(3):e1000403.
2009: Nicholas Thomas J; Cheng Ze; Ventura Mario; Mealey Katrina; Eichler Evan E; Akey Joshua M
The genomic architecture of segmental duplications and associated copy number variants in dogs.
Genome research 2009;19(3):491-9.
2009: Marques-Bonet Tomas; Kidd Jeffrey M; Ventura Mario; Graves Tina A; Cheng Ze; Hillier LaDeana W; Jiang Zhaoshi; Baker Carl; Malfavon-Borja Ray; Fulton Lucinda A; Alkan Can; Aksay Gozde; Girirajan Santhosh; Siswara Priscillia; Chen Lin; Cardone Maria Francesca; Navarro Arcadi; Mardis Elaine R; Wilson Richard K; Eichler Evan E
A burst of segmental duplications in the genome of the African great ape ancestor.
Nature 2009;457(7231):877-81.
2009: de Cid Rafael; Riveira-Munoz Eva; Zeeuwen Patrick L J M; Robarge Jason; Liao Wilson; Dannhauser Emma N; Giardina Emiliano; Stuart Philip E; Nair Rajan; Helms Cynthia; Escaramís Georgia; Ballana Ester; Martín-Ezquerra Gemma; den Heijer Martin; Kamsteeg Marijke; Joosten Irma; Eichler Evan E; Lázaro Conxi; Pujol Ramón M; Armengol Lluís; Abecasis Gonçalo; Elder James T; Novelli Giuseppe; Armour John A L; Kwok Pui-Yan; Bowcock Anne; Schalkwijk Joost; Estivill Xavier
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
Nature genetics 2009;41(2):211-5.
2009: Itsara Andy; Cooper Gregory M; Baker Carl; Girirajan Santhosh; Li Jun; Absher Devin; Krauss Ronald M; Myers Richard M; Ridker Paul M; Chasman Daniel I; Mefford Heather; Ying Phyllis; Nickerson Deborah A; Eichler Evan E
Population analysis of large copy number variants and hotspots of human genetic disease.
American journal of human genetics 2009;84(2):148-61.
2009: Girirajan Santhosh; Chen Lin; Graves Tina; Marques-Bonet Tomas; Ventura Mario; Fronick Catrina; Fulton Lucinda; Rocchi Mariano; Fulton Robert S; Wilson Richard K; Mardis Elaine R; Eichler Evan E
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.
Genome research 2009;19(2):178-90.
2009: Degenhardt Jeremiah D; de Candia Paola; Chabot Adrien; Schwartz Stuart; Henderson Les; Ling Binhua; Hunter Meredith; Jiang Zhaoshi; Palermo Robert E; Katze Michael; Eichler Evan E; Ventura Mario; Rogers Jeffrey; Marx Preston; Gilad Yoav; Bustamante Carlos D
Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta).
PLoS genetics 2009;5(1):e1000346.
2009: Marques-Bonet Tomas; Ryder Oliver A; Eichler Evan E
Sequencing primate genomes: what have we learned?
Annual review of genomics and human genetics 2009;10():355-86.
2009: De Bustos Cecilia; Ramos Edward; Young Janet M; Tran Robert K; Menzel Uwe; Langford Cordelia F; Eichler Evan E; Hsu Li; Henikoff Steve; Dumanski Jan P; Trask Barbara J
Tissue-specific variation in DNA methylation levels along human chromosome 1.
Epigenetics & chromatin 2009;2(1):7.
2008: Kidd Jeffrey M; Cheng Ze; Graves Tina; Fulton Bob; Wilson Richard K; Eichler Evan E
Haplotype sorting using human fosmid clone end-sequence pairs.
Genome research 2008;18(12):2016-23.
2008: Perry George H; Yang Fengtang; Marques-Bonet Tomas; Murphy Carly; Fitzgerald Tomas; Lee Arthur S; Hyland Courtney; Stone Anne C; Hurles Matthew E; Tyler-Smith Chris; Eichler Evan E; Carter Nigel P; Lee Charles; Redon Richard
Copy number variation and evolution in humans and chimpanzees.
Genome research 2008;18(11):1698-710.
2008: Varki Ajit; Geschwind Daniel H; Eichler Evan E
Explaining human uniqueness: genome interactions with environment, behaviour and culture.
Nature reviews. Genetics 2008;9(10):749-63.
2008: Cooper Gregory M; Zerr Troy; Kidd Jeffrey M; Eichler Evan E; Nickerson Deborah A
Systematic assessment of copy number variant detection via genome-wide SNP genotyping.
Nature genetics 2008;40(10):1199-203.
2008: Zody Michael C; Jiang Zhaoshi; Fung Hon-Chung; Antonacci Francesca; Hillier LaDeana W; Cardone Maria Francesca; Graves Tina A; Kidd Jeffrey M; Cheng Ze; Abouelleil Amr; Chen Lin; Wallis John; Glasscock Jarret; Wilson Richard K; Reily Amy Denise; Duckworth Jaime; Ventura Mario; Hardy John; Warren Wesley C; Eichler Evan E
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Nature genetics 2008;40(9):1076-83.
2008: Jiang Zhaoshi; Hubley Robert; Smit Arian; Eichler Evan E
DupMasker: a tool for annotating primate segmental duplications.
Genome research 2008;18(8):1362-8.
2008: Martin Judy; Knight Samantha J L; Sharp Andrew J; Eichler Evan E; Hurst Jane; Kini Usha
Potocki-Lupski syndrome mimicking a connective tissue disorder.
Clinical dysmorphology 2008;17(3):211-3.
2008: She Xinwei; Cheng Ze; Zöllner Sebastian; Church Deanna M; Eichler Evan E
Mouse segmental duplication and copy number variation.
Nature genetics 2008;40(7):909-14.
2008: Kirsch Stefan; Münch Claudia; Jiang Zhaoshi; Cheng Ze; Chen Lin; Batz Christiane; Eichler Evan E; Schempp Werner
Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions.
Genome research 2008;18(7):1030-42.
2008: Eichler Evan E; Zimmerman Andrew W
A hot spot of genetic instability in autism.
The New England journal of medicine 2008;358(7):737-9.
2008: Bovee Donald; Zhou Yang; Haugen Eric; Wu Zaining; Hayden Hillary S; Gillett Will; Tuzun Eray; Cooper Gregory M; Sampas Nick; Phelps Karen; Levy Ruth; Morrison V Anne; Sprague James; Jewett Donald; Buckley Danielle; Subramaniam Sandhya; Chang Jean; Smith Douglas R; Olson Maynard V; Eichler Evan E; Kaul Rajinder
Closing gaps in the human genome with fosmid resources generated from multiple individuals.
Nature genetics 2008;40(1):96-101.
2008: Bailey J A; Kidd J M; Eichler E E
Human copy number polymorphic genes.
Cytogenetic and genome research 2008;123(1-4):234-43.
2008: Lomiento Mariana; Jiang Zhaoshi; D'Addabbo Pietro; Eichler Evan E; Rocchi Mariano
Evolutionary-new centromeres preferentially emerge within gene deserts.
Genome biology 2008;9(12):R173.
2008: Marques-Bonet Tomàs; Cheng Ze; She Xinwei; Eichler Evan E; Navarro Arcadi
The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements.
BMC genomics 2008;9():384.
2008: Cardone Maria Francesca; Jiang Zhaoshi; D'Addabbo Pietro; Archidiacono Nicoletta; Rocchi Mariano; Eichler Evan E; Ventura Mario
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.
Genome biology 2008;9(2):R28.
2007: Mefford Heather C; Clauin Severine; Sharp Andrew J; Moller Rikke S; Ullmann Reinhard; Kapur Raj; Pinkel Dan; Cooper Gregory M; Ventura Mario; Ropers H Hilger; Tommerup Niels; Eichler Evan E; Bellanne-Chantelot Christine
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics 2007;81(5):1057-69.
2007: Jiang Zhaoshi; Tang Haixu; Ventura Mario; Cardone Maria Francesca; Marques-Bonet Tomas; She Xinwei; Pevzner Pavel A; Eichler Evan E
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.
Nature genetics 2007;39(11):1361-8.
2007: Lyle Robert; Prandini Paola; Osoegawa Kazutoyo; ten Hallers Boudewijn; Humphray Sean; Zhu Baoli; Eyras Eduardo; Castelo Robert; Bird Christine P; Gagos Sarantos; Scott Carol; Cox Antony; Deutsch Samuel; Ucla Catherine; Cruts Marc; Dahoun Sophie; She Xinwei; Bena Frederique; Wang Sheng-Yue; Van Broeckhoven Christine; Eichler Evan E; Guigo Roderic; Rogers Jane; de Jong Pieter J; Reymond Alexandre; Antonarakis Stylianos E
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.
Genome research 2007;17(11):1690-6.
2007: Sharp Andrew J; Itsara Andy; Cheng Ze; Alkan Can; Schwartz Stuart; Eichler Evan E
Optimal design of oligonucleotide microarrays for measurement of DNA copy-number.
Human molecular genetics 2007;16(22):2770-9.
2007: Alkan Can; Ventura Mario; Archidiacono Nicoletta; Rocchi Mariano; Sahinalp S Cenk; Eichler Evan E
Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data.
PLoS computational biology 2007;3(9):1807-18.
2007: Scherer Stephen W; Lee Charles; Birney Ewan; Altshuler David M; Eichler Evan E; Carter Nigel P; Hurles Matthew E; Feuk Lars
Challenges and standards in integrating surveys of structural variation.
Nature genetics 2007;39(7 Suppl):S7-15.
2007: Cooper Gregory M; Nickerson Deborah A; Eichler Evan E
Mutational and selective effects on copy-number variants in the human genome.
Nature genetics 2007;39(7 Suppl):S22-9.
2007: Eichler Evan E; Nickerson Deborah A; Altshuler David; Bowcock Anne M; Brooks Lisa D; Carter Nigel P; Church Deanna M; Felsenfeld Adam; Guyer Mark; Lee Charles; Lupski James R; Mullikin James C; Pritchard Jonathan K; Sebat Jonathan; Sherry Stephen T; Smith Douglas; Valle David; Waterston Robert H
Completing the map of human genetic variation.
Nature 2007;447(7141):161-5.
2007: Kidd Jeffrey M; Newman Tera L; Tuzun Eray; Kaul Rajinder; Eichler Evan E
Population stratification of a common APOBEC gene deletion polymorphism.
PLoS genetics 2007;3(4):e63.
2007: Ventura Mario; Antonacci Francesca; Cardone Maria Francesca; Stanyon Roscoe; D'Addabbo Pietro; Cellamare Angelo; Sprague L James; Eichler Evan E; Archidiacono Nicoletta; Rocchi Mariano
Evolutionary formation of new centromeres in macaque.
Science (New York, N.Y.) 2007;316(5822):243-6.
2007: Sharp Andrew J; Selzer Rebecca R; Veltman Joris A; Gimelli Stefania; Gimelli Giorgio; Striano Pasquale; Coppola Antonietta; Regan Regina; Price Sue M; Knoers Nine V; Eis Peggy S; Brunner Han G; Hennekam Raoul C; Knight Samantha J L; de Vries Bert B A; Zuffardi Orsetta; Eichler Evan E
Characterization of a recurrent 15q24 microdeletion syndrome.
Human molecular genetics 2007;16(5):567-72.
2007: Roberto Roberta; Capozzi Oronzo; Wilson Richard K; Mardis Elaine R; Lomiento Mariana; Tuzun Eray; Cheng Ze; Mootnick Alan R; Archidiacono Nicoletta; Rocchi Mariano; Eichler Evan E
Molecular refinement of gibbon genome rearrangements.
Genome research 2007;17(2):249-57.
2007: Wong Kendy K; deLeeuw Ronald J; Dosanjh Nirpjit S; Kimm Lindsey R; Cheng Ze; Horsman Douglas E; MacAulay Calum; Ng Raymond T; Brown Carolyn J; Eichler Evan E; Lam Wan L
A comprehensive analysis of common copy-number variations in the human genome.
American journal of human genetics 2007;80(1):91-104.
2006: Johnson Matthew E; Cheng Ze; Morrison V Anne; Scherer Steven; Ventura Mario; Gibbs Richard A; Green Eric D; Eichler Evan E
Recurrent duplication-driven transposition of DNA during hominoid evolution.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(47):17626-31.
2006: Eichler Evan
2005 Curt Stern Award address. Introductory speech for Patrick O. Brown.
American journal of human genetics 2006;79(3):427-8.
2006: Sharp Andrew J; Hansen Sierra; Selzer Rebecca R; Cheng Ze; Regan Regina; Hurst Jane A; Stewart Helen; Price Sue M; Blair Edward; Hennekam Raoul C; Fitzpatrick Carrie A; Segraves Rick; Richmond Todd A; Guiver Cheryl; Albertson Donna G; Pinkel Daniel; Eis Peggy S; Schwartz Stuart; Knight Samantha J L; Eichler Evan E
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Nature genetics 2006;38(9):1038-42.
2006: Locke Devin P; Sharp Andrew J; McCarroll Steven A; McGrath Sean D; Newman Tera L; Cheng Ze; Schwartz Stuart; Albertson Donna G; Pinkel Daniel; Altshuler David M; Eichler Evan E
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
American journal of human genetics 2006;79(2):275-90.
2006: Bailey Jeffrey A; Eichler Evan E
Primate segmental duplications: crucibles of evolution, diversity and disease.
Nature reviews. Genetics 2006;7(7):552-64.
2006: Perry George H; Tchinda Joelle; McGrath Sean D; Zhang Junjun; Picker Simon R; Cáceres Angela M; Iafrate A John; Tyler-Smith Chris; Scherer Stephen W; Eichler Evan E; Stone Anne C; Lee Charles
Hotspots for copy number variation in chimpanzees and humans.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(21):8006-11.
2006: She Xinwei; Liu Ge; Ventura Mario; Zhao Shaying; Misceo Doriana; Roberto Roberta; Cardone Maria Francesca; Rocchi Mariano; Green Eric D; Archidiacano Nicoletta; Eichler Evan E
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
Genome research 2006;16(5):576-83.
2006: Newman Tera L; Rieder Mark J; Morrison V Anne; Sharp Andrew J; Smith Joshua D; Sprague L James; Kaul Rajinder; Carlson Christopher S; Olson Maynard V; Nickerson Deborah A; Eichler Evan E
High-throughput genotyping of intermediate-size structural variation.
Human molecular genetics 2006;15(7):1159-67.
2006: Eichler Evan E
Widening the spectrum of human genetic variation.
Nature genetics 2006;38(1):9-11.
2006: Cardone Maria Francesca; Alonso Alicia; Pazienza Michele; Ventura Mario; Montemurro Gabriella; Carbone Lucia; de Jong Pieter J; Stanyon Roscoe; D'Addabbo Pietro; Archidiacono Nicoletta; She Xinwei; Eichler Evan E; Warburton Peter E; Rocchi Mariano
Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs.
Genome biology 2006;7(10):R91.
2006: Sharp Andrew J; Cheng Ze; Eichler Evan E
Structural variation of the human genome.
Annual review of genomics and human genetics 2006;7():407-42.
2005: Coghlan Avril; Eichler Evan E; Oliver Stephen G; Paterson Andrew H; Stein Lincoln
Chromosome evolution in eukaryotes: a multi-kingdom perspective.
Trends in genetics : TIG 2005;21(12):673-82.
2005: Newman Tera L; Tuzun Eray; Morrison V Anne; Hayden Karen E; Ventura Mario; McGrath Sean D; Rocchi Mariano; Eichler Evan E
A genome-wide survey of structural variation between human and chimpanzee.
Genome research 2005;15(10):1344-56.
2005: Cheng Ze; Ventura Mario; She Xinwei; Khaitovich Philipp; Graves Tina; Osoegawa Kazutoyo; Church Deanna; DeJong Pieter; Wilson Richard K; Pääbo Svante; Rocchi Mariano; Eichler Evan E
A genome-wide comparison of recent chimpanzee and human segmental duplications.
Nature 2005;437(7055):88-93.
2005: Alkan Can; Tüzün Eray; Buard Jerome; Lethiec Franck; Eichler Evan E; Bailey Jeffrey A; Sahinalp S Cenk
Manipulating multiple sequence alignments via MaM and WebMaM.
Nucleic acids research 2005;33(Web Server issue):W295-8.
2005: Horvath Julie E; Gulden Cassandra L; Vallente Rhea U; Eichler Marla Y; Ventura Mario; McPherson John D; Graves Tina A; Wilson Richard K; Schwartz Stuart; Rocchi Mariano; Eichler Evan E
Punctuated duplication seeding events during the evolution of human chromosome 2p11.
Genome research 2005;15(7):914-27.
2005: Sharp Andrew J; Locke Devin P; McGrath Sean D; Cheng Ze; Bailey Jeffrey A; Vallente Rhea U; Pertz Lisa M; Clark Royden A; Schwartz Stuart; Segraves Rick; Oseroff Vanessa V; Albertson Donna G; Pinkel Daniel; Eichler Evan E
Segmental duplications and copy-number variation in the human genome.
American journal of human genetics 2005;77(1):78-88.
2005: Tuzun Eray; Sharp Andrew J; Bailey Jeffrey A; Kaul Rajinder; Morrison V Anne; Pertz Lisa M; Haugen Eric; Hayden Hillary; Albertson Donna; Pinkel Daniel; Olson Maynard V; Eichler Evan E
Fine-scale structural variation of the human genome.
Nature genetics 2005;37(7):727-32.
2005: Yohn Chris T; Jiang Zhaoshi; McGrath Sean D; Hayden Karen E; Khaitovich Philipp; Johnson Matthew E; Eichler Marla Y; McPherson John D; Zhao Shaying; Pääbo Svante; Eichler Evan E
Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.
PLoS biology 2005;3(4):e110.
2005: Kirsch Stefan; Weiss Birgit; Miner Tracie L; Waterston Robert H; Clark Royden A; Eichler Evan E; Münch Claudia; Schempp Werner; Rappold Gudrun
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.
Genome research 2005;15(2):195-204.
2005: Locke D P; Jiang Z; Pertz L M; Misceo D; Archidiacono N; Eichler E E
Molecular evolution of the human chromosome 15 pericentromeric region.
Cytogenetic and genome research 2005;108(1-3):73-82.
2004: Sahinalp S Cenk; Eichler Evan; Goldberg Paul; Berenbrink Petra; Friedetzky Tom; Ergun Funda
Identifying uniformly mutated segments within repeats.
Journal of bioinformatics and computational biology 2004;2(4):657-68.
2004: She Xinwei; Jiang Zhaoshi; Clark Royden A; Liu Ge; Cheng Ze; Tuzun Eray; Church Deanna M; Sutton Granger; Halpern Aaron L; Eichler Evan E
Shotgun sequence assembly and recent segmental duplications within the human genome.
Nature 2004;431(7011):927-30.
2004: Ventura Mario; Weigl Stefania; Carbone Lucia; Cardone Maria Francesca; Misceo Doriana; Teti Mariagrazia; D'Addabbo Pietro; Wandall Annelise; Björck Erik; de Jong Pieter J; She Xinwei; Eichler Evan E; Archidiacono Nicoletta; Rocchi Mariano
Recurrent sites for new centromere seeding.
Genome research 2004;14(9):1696-703.
2004: She Xinwei; Horvath Julie E; Jiang Zhaoshi; Liu Ge; Furey Terrence S; Christ Laurie; Clark Royden; Graves Tina; Gulden Cassy L; Alkan Can; Bailey Jeff A; Sahinalp Cenk; Rocchi Mariano; Haussler David; Wilson Richard K; Miller Webb; Schwartz Stuart; Eichler Evan E
The structure and evolution of centromeric transition regions within the human genome.
Nature 2004;430(7002):857-64.
2004: Khaitovich Philipp; Muetzel Bjoern; She Xinwei; Lachmann Michael; Hellmann Ines; Dietzsch Janko; Steigele Stephan; Do Hong-Hai; Weiss Gunter; Enard Wolfgang; Heissig Florian; Arendt Thomas; Nieselt-Struwe Kay; Eichler Evan E; Pääbo Svante
Regional patterns of gene expression in human and chimpanzee brains.
Genome research 2004;14(8):1462-73.
2004: Chen Daniel C; Saarela Janna; Clark Royden A; Miettinen Timo; Chi Anthony; Eichler Evan E; Peltonen Leena; Palotie Aarno
Segmental duplications flank the multiple sclerosis locus on chromosome 17q.
Genome research 2004;14(8):1483-92.
2004: Fredman David; White Stefan J; Potter Susanna; Eichler Evan E; Den Dunnen Johan T; Brookes Anthony J
Complex SNP-related sequence variation in segmental genome duplications.
Nature genetics 2004;36(8):861-6.
2004: Eichler Evan E; Clark Royden A; She Xinwei
An assessment of the sequence gaps: unfinished business in a finished human genome.
Nature reviews. Genetics 2004;5(5):345-54.
2004: Bailey Jeffrey A; Church Deanna M; Ventura Mario; Rocchi Mariano; Eichler Evan E
Analysis of segmental duplications and genome assembly in the mouse.
Genome research 2004;14(5):789-801.
2004: Tuzun Eray; Bailey Jeffrey A; Eichler Evan E
Recent segmental duplications in the working draft assembly of the brown Norway rat.
Genome research 2004;14(4):493-506.
2004: Astbury Caroline; Christ Laurie A; Aughton David J; Cassidy Suzanne B; Kumar Arun; Eichler Evan E; Schwartz Stuart
Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(2):81-9.
2004: Locke D P; Segraves R; Nicholls R D; Schwartz S; Pinkel D; Albertson D G; Eichler E E
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
Journal of medical genetics 2004;41(3):175-82.
2004: Alkan Can; Eichler Evan E; Bailey Jeffrey A; Sahinalp S Cenk; Tüzün Eray
The role of unequal crossover in alpha-satellite DNA evolution: a computational analysis.
Journal of computational biology : a journal of computational molecular cell biology 2004;11(5):933-44.
2004: Bailey Jeffrey A; Baertsch Robert; Kent W James; Haussler David; Eichler Evan E
Hotspots of mammalian chromosomal evolution.
Genome biology 2004;5(4):R23.
2004: Eichler Evan E; Frazer Kelly A
The nature, pattern and function of human sequence variation.
Genome biology 2004;5(4):318.
2003: Eichler Evan E; Patel Nipam H
Genomes and evolution. From sequence to organism.
Current opinion in genetics & development 2003;13(6):559-61.
2003: Chai J-H; Locke D P; Greally J M; Knoll J H M; Ohta T; Dunai J; Yavor A; Eichler E E; Nicholls R D
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
American journal of human genetics 2003;73(4):898-925.
2003: Bailey Jeffrey A; Liu Ge; Eichler Evan E
An Alu transposition model for the origin and expansion of human segmental duplications.
American journal of human genetics 2003;73(4):823-34.
2003: Horvath J E; Gulden C L; Bailey J A; Yohn C; McPherson J D; Prescott A; Roe B A; de Jong P J; Ventura M; Misceo D; Archidiacono N; Zhao S; Schwartz S; Rocchi M; Eichler E E
Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications.
Molecular biology and evolution 2003;20(9):1463-79.
2003: Eichler Evan E; Sankoff David
Structural dynamics of eukaryotic chromosome evolution.
Science (New York, N.Y.) 2003;301(5634):793-7.
2003: Liu Ge; Zhao Shaying; Bailey Jeffrey A; Sahinalp S Cenk; Alkan Can; Tuzun Eray; Green Eric D; Eichler Evan E
Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome.
Genome research 2003;13(3):358-68.
2003: Locke Devin P; Segraves Richard; Carbone Lucia; Archidiacono Nicoletta; Albertson Donna G; Pinkel Daniel; Eichler Evan E
Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization.
Genome research 2003;13(3):347-57.
2003: Guy Jane; Hearn Tom; Crosier Moira; Mudge Jonathan; Viggiano Luigi; Koczan Dirk; Thiesen Hans-Jurgen; Bailey Jeffrey A; Horvath Julie E; Eichler Evan E; Earthrowl Mark E; Deloukas Panos; French Lisa; Rogers Jane; Bentley David; Jackson Michael S
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p.
Genome research 2003;13(2):159-72.
2003: Bailey J A; Eichler E E
Genome-wide detection and analysis of recent segmental duplications within mammalian organisms.
Cold Spring Harbor symposia on quantitative biology 2003;68():115-24.
2003: Locke Devin P; Archidiacono Nicoletta; Misceo Doriana; Cardone Maria Francesca; Deschamps Stephane; Roe Bruce; Rocchi Mariano; Eichler Evan E
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster.
Genome biology 2003;4(8):R50.
2002: Bailey Jeffrey A; Gu Zhiping; Clark Royden A; Reinert Knut; Samonte Rhea V; Schwartz Stuart; Adams Mark D; Myers Eugene W; Li Peter W; Eichler Evan E
Recent segmental duplications in the human genome.
Science (New York, N.Y.) 2002;297(5583):1003-7.
2002: Eichler Evan E; DeJong Pieter J
Biomedical applications and studies of molecular evolution: a proposal for a primate genomic library resource.
Genome research 2002;12(5):673-8.
2002: Kashuk Carl; SenGupta Sanghamitra; Eichler Evan; Chakravarti Aravinda
ViewGene: a graphical tool for polymorphism visualization and characterization.
Genome research 2002;12(2):333-8.
2002: Samonte Rhea Vallente; Eichler Evan E
Segmental duplications and the evolution of the primate genome.
Nature reviews. Genetics 2002;3(1):65-72.
2002: Bailey Jeffrey A; Yavor Amy M; Viggiano Luigi; Misceo Doriana; Horvath Juliann E; Archidiacono Nicoletta; Schwartz Stuart; Rocchi Mariano; Eichler Evan E
Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.
American journal of human genetics 2002;70(1):83-100.
2002: van Geel Michel; Eichler Evan E; Beck Amy F; Shan Zhihong; Haaf Thomas; van der Maarel Silvère M; Frants Rune R; de Jong Pieter J
A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes.
American journal of human genetics 2002;70(1):269-78.
2002: Alkan Can; Bailey Jeffrey A; Eichler Evan E; Sahinalp S Cenk; Tuzun Eray
An algorithmic analysis of the role of unequal crossover in alpha-satellite DNA evolution.
Genome informatics. International Conference on Genome Informatics 2002;13():93-102.
2001: Eichler E E; Johnson M E; Alkan C; Tuzun E; Sahinalp C; Misceo D; Archidiacono N; Rocchi M
Divergent origins and concerted expansion of two segmental duplications on chromosome 16.
The Journal of heredity 2001;92(6):462-8.
2001: Cutler D J; Zwick M E; Carrasquillo M M; Yohn C T; Tobin K P; Kashuk C; Mathews D J; Shah N A; Eichler E E; Warrington J A; Chakravarti A
High-throughput variation detection and genotyping using microarrays.
Genome research 2001;11(11):1913-25.
2001: Horvath J E; Bailey J A; Locke D P; Eichler E E
Lessons from the human genome: transitions between euchromatin and heterochromatin.
Human molecular genetics 2001;10(20):2215-23.
2001: Johnson M E; Viggiano L; Bailey J A; Abdul-Rauf M; Goodwin G; Rocchi M; Eichler E E
Positive selection of a gene family during the emergence of humans and African apes.
Nature 2001;413(6855):514-9.
2001: Mathews D J; Kashuk C; Brightwell G; Eichler E E; Chakravarti A
Sequence variation within the fragile X locus.
Genome research 2001;11(8):1382-91.
2001: Bailey J A; Yavor A M; Massa H F; Trask B J; Eichler E E
Segmental duplications: organization and impact within the current human genome project assembly.
Genome research 2001;11(6):1005-17.
2001: Eichler E E
Segmental duplications: what's missing, misassigned, and misassembled--and should we care?
Genome research 2001;11(5):653-6.
2000: Horvath J E; Schwartz S; Eichler E E
The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome.
Genome research 2000;10(6):839-52.
2000: Bailey J A; Carrel L; Chakravarti A; Eichler E E
Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(12):6634-9.
2000: Ji Y; Eichler E E; Schwartz S; Nicholls R D
Structure of chromosomal duplicons and their role in mediating human genomic disorders.
Genome research 2000;10(5):597-610.
2000: Horvath J E; Viggiano L; Loftus B J; Adams M D; Archidiacono N; Rocchi M; Eichler E E
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11.
Human molecular genetics 2000;9(1):113-23.
1999: Eichler E E; Archidiacono N; Rocchi M
CAGGG repeats and the pericentromeric duplication of the hominoid genome.
Genome research 1999;9(11):1048-58.
1999: Loftus B J; Kim U J; Sneddon V P; Kalush F; Brandon R; Fuhrmann J; Mason T; Crosby M L; Barnstead M; Cronin L; Deslattes Mays A; Cao Y; Xu R X; Kang H L; Mitchell S; Eichler E E; Harris P C; Venter J C; Adams M D
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Genomics 1999;60(3):295-308.
1999: Eichler E E
Repetitive conundrums of centromere structure and function.
Human molecular genetics 1999;8(2):151-5.
1998: Trask B J; Massa H; Brand-Arpon V; Chan K; Friedman C; Nguyen O T; Eichler E; van den Engh G; Rouquier S; Shizuya H; Giorgi D
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.
Human molecular genetics 1998;7(13):2007-20.
1998: Eichler E E
Masquerading repeats: paralogous pitfalls of the human genome.
Genome research 1998;8(8):758-62.

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