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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Biological And Medical Sciences remover
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Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
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Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

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.

American journal of human genetics, 2009-02, Vol.84 (2), p.148-161 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Segmental Duplications and Copy-Number Variation in the Human Genome
Segmental Duplications and Copy-Number Variation in the Human Genome
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Segmental Duplications and Copy-Number Variation in the Human Genome

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.

American journal of human genetics, 2005-07, Vol.77 (1), p.78-88 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome
Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome
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Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome

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.

American journal of human genetics, 2006-08, Vol.79 (2), p.275-290 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Faucett, W. Andrew ; Feuk, Lars ; Friedman, Jan M. ; Hamosh, Ada ; Jackson, Laird ; Kaminsky, Erin B. ; Kok, Klaas ; Krantz, Ian D. ; Kuhn, Robert M. ; Lee, Charles ; Ostell, James M. ; Rosenberg, Carla ; Scherer, Stephen W. ; Spinner, Nancy B. ; Stavropoulos, Dimitri J. ; Tepperberg, James H. ; Thorland, Erik C. ; Vermeesch, Joris R. ; Waggoner, Darrel J. ; Watson, Michael S. ; Martin, Christa Lese ; Ledbetter, David H.

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
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
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
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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

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.

American journal of human genetics, 2003-10, Vol.73 (4), p.898-925 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Mefford, Heather C. ; Clauin, Séverine ; 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

American journal of human genetics, 2007-11, Vol.81 (5), p.1057-1069 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
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Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

Campbell, Catarina D. ; Sampas, Nick ; Tsalenko, Anya ; Sudmant, Peter H. ; Kidd, Jeffrey M. ; Malig, Maika ; Vu, Tiffany H. ; Vives, Laura ; Tsang, Peter ; Bruhn, Laurakay ; Eichler, Evan E.

American journal of human genetics, 2011-03, Vol.88 (3), p.317-332 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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8
Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22
Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22
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Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22

Bailey, Jeffrey A. ; Yavor, Amy M. ; Viggiano, Luigi ; Misceo, Doriana ; Horvath, Juliann E. ; Archidiacono, Nicoletta ; Schwartz, Stuart ; Rocchi, Mariano ; Eichler, Evan E.

American journal of human genetics, 2002-01, Vol.70 (1), p.83-100 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Itsara, Andy ; Vissers, Lisenka E.L.M. ; Steinberg, Karyn Meltz ; Meyer, Kevin J. ; Zody, Michael C. ; Koolen, David A. ; de Ligt, Joep ; Cuppen, Edwin ; Baker, Carl ; Lee, Choli ; Graves, Tina A. ; Wilson, Richard K. ; Jenkins, Robert B. ; Veltman, Joris A. ; Eichler, Evan E.

American journal of human genetics, 2012-04, Vol.90 (4), p.599-613 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
Predisposition to the fragile X syndrome in jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
Predisposition to the fragile X syndrome in jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
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Predisposition to the fragile X syndrome in jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype

FALIK-ZACCAI, T. C ; SHACHAK, E ; YALON, M ; LIS, Z ; BOROCHOWITZ, Z ; MACPHERSON, J. N ; NELSON, D. L ; EICHLER, E. E

American journal of human genetics, 1997, Vol.60 (1), p.103-112 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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