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المؤلفون: Elaine R. Mardis, Rachel Maupin, Rhonda E. Ries, Rakesh Nagarajan, Daniel C. Link, Hrishikesh Deshmukh, Michael H. Tomasson, William D. Shannon, Jacob O. Kitzman, Joel Geoghegan, Jacqueline E. Payton, Timothy J. Ley, John F. DiPersio, Clara D. Bloomfield, Sharon Heath, Peter Westervelt, Yu Zhao, Mark A. Watson, Krzysztof Mrózek, Peggy S. Eis, Robert S. Fulton, Rebecca R. Selzer, Brian O’Gara, Michael D. McLellan, Todd Richmond, Matthew J. Walter, Jack Baty, Timothy A. Graubert, Richard K. Wilson
المصدر: Proceedings of the National Academy of Sciences. 106:12950-12955
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Gene Dosage, Copy number analysis, Genomics, Biology, Polymorphism, Single Nucleotide, Genome, Translocation, Genetic, medicine, Humans, Aged, Genetics, Multidisciplinary, Intracellular Signaling Peptides and Proteins, Cytogenetics, Nuclear Proteins, Myeloid leukemia, Histone-Lysine N-Methyltransferase, Biological Sciences, Middle Aged, medicine.disease, Molecular biology, Uniparental disomy, Nuclear Pore Complex Proteins, Leukemia, Myeloid, Acute, Mutation, Histone Methyltransferases, Female, Comparative genomic hybridization, SNP array
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed56a985bb7acea13ce205bff9f248ba
https://doi.org/10.1073/pnas.0903091106 -
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المؤلفون: Robert Baertsch, Karen A. Phelps, Lisa Cook, Joelle Kalicki, Michelle O'Laughlin, Kerry L. Bubb, David Torrents, Kristine M. Wylie, Andrew Vanbrunt, Mark E. Schaller, Dan Layman, Kelsi Scott, LaDeana W. Hillier, Marco A. Marra, Caryn Wagner-McPherson, Cindy Strong, Phil Latreille, Hui Sun, Maynard V. Olson, Holland Bradshaw-Cordum, Amanda Abbott, Robert S. Fulton, Nicolas Berkowicz, Richard Harkins, Asif T. Chinwalla, Rajinder Kaul, William E. Nash, Chad Tomlinson, Susan M. Rock, Patricia Wohldmann, Paul Flicek, Elaine R. Mardis, Catrina Strowmatt, James M. Eldred, Betty Lamar, Christopher K. Raymond, Michael C. Wendl, Lauren Bielicki, Shawn Leonard, John Douglas Mcpherson, Christine Nguyen, Jennifer Murray, Michael C. Becker, Lucinda Fulton, Amber Isak, Will Gillett, Matt Cordes, James B. Clendenning, Kymberlie H. Pepin, Mandeep Sekhon, Eric Haugen, Feiyu Du, Theresa Rohlfing, Kimberly D. Delehaunty, Nancy Miller, Amy Kozlowicz-Reilly, Eric D. Green, W. James Kent, Tamberlyn Bieri, Peer Bork, Richard K. Wilson, Patrick Minx, John Spieth, Evan E. Eichler, Shawn Iadanoto, Terrence S. Furey, Matthew E. Portnoy, Shunfang Hou, R. James, Warren Gish, Brian Schultz, Doug Johnson, Philip Ozersky, Jennifer Edwards, Stephanie L. Chissoe, Jeffrey A. Bailey, Tracie L. Miner, Jason Maas, Andrea Holmes, Sandra W. Clifton, Sara Jaeger, Tina Graves, Ruth Levy, Joseph A. Bedell, Ginger A. Fewell, Mikita Suyama, Shiaw-Pyng Yang, Sean R. Eddy, Rebecca S. Walker, Aye-Mon Tin-Wollam, Hui Du, Evan Keibler, Matthew T. Hickenbotham, Sara Dauphin-Kohlberg, Robert H. Waterston, Yang Zhou, Stephanie Andrews, Johar Ali, John W. Wallis, Michael R. Brent, Rachel Maupin, Donald Williams, Elizabeth Simms, Laura Courtney, Anthony R. Harris, Jeffrey Woessner, Joanne O. Nelson
المصدر: Nature. 424:157-164
مصطلحات موضوعية: Williams Syndrome, Chromosome 7 (human), Genetics, RNA, Untranslated, Multidisciplinary, Base Sequence, Sequence analysis, Pseudogene, Molecular Sequence Data, Proteins, Sequence Analysis, DNA, Genome project, Biology, Physical Chromosome Mapping, Conserved sequence, Sequence-tagged site, Mice, Sequence logo, Species Specificity, Gene Duplication, Consensus sequence, Animals, Humans, Chromosomes, Human, Pair 7, Pseudogenes
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المؤلفون: Xinwei She, Sara Dauphin-Kohlberg, Robert H. Waterston, Patricia Wohldmann, Joelle Kalicki, Ivan Ovcharenko, Shawn Leonard, Scott Kruchowski, Ernest Goyea, William Haakenson, Scott Abbott, Catrina Fronick, Aniko Sabo, Maria Cedroni, Edward A. Belter, Hui Du, Asif T. Chinwalla, Kelly Mead, Michael C. Wendl, Rachel Maupin, Amber Isak, David R. Cox, Tamberlyn Bieri, LaDeana W. Hillier, Lee Trani, Neenu Grewal, Aye Mon Tin-Wollam, Rick Meyer, Lachlan G. Oddy, Lucinda Fulton, Li Ding, Richard M. Myers, Neha Shah, Colin Kremitzki, Tracie L. Miner, Holland Bradshaw-Cordum, Tina Graves, Glendoria Elliott, Matthew T. Hickenbotham, Wesley C. Warren, Mandeep Sekhon, Anu Desai, Jason Carter, Thomas Erb, Webb Miller, Prashant R. Sinha, Richard K. Wilson, Krista Haglund, John Spieth, Craig Pohl, Lisa Cook, John Douglas Mcpherson, Patrick Minx, Susan M. Rock, Ginger A. Fewell, Thomas A. Jones, Michael C. Becker, Yoram Shotland, Chunyan Wang, Jason Waligorski, Kyung Kim, Nicolas Berkowicz, Amy Kozlowicz-Reilly, Johar Ali, Xiaoqiu Huang, Shiaw Pyng Yang, Sean R. Eddy, Mikita Suyama, Francesca D. Ciccarelli, Martin Yoakum, John W. Wallis, Kristine M. Wylie, Maxim Radionenko, Donald Williams, Richard Harkins, Terrence S. Furey, Jacqueline E. Snider, Michael D. McLellan, Andrea Holmes, Shunfang Hou, Johanna Thompson, Andrew Van Brunt, Hui Sun, Teresa Davidson, Rekha Meyer, Feiyu Du, Jennifer Randall-Maher, Chad Tomlinson, Jon R. Armstrong, Robert S. Fulton, William E. Nash, Philip Ozersky, Marc Cotton, Sandra W. Clifton, Elisa Izaurralde, Lauren Caruso, Joanne O. Nelson, James M. Eldred, Sharhonda Swearengen-Shahid, Marco A. Marra, Caryn Wagner-McPherson, Cindy Strong, David Torrents, Phil Latreille, Peer Bork, Elaine R. Mardis, Andrew Levy, Evan E. Eichler, Laura Courtney, Anthony R. Harris, Jeremy Schmutz, Christine Nguyen, Dan Layman, James Taylor, Matt Cordes, Joseph T. Strong, Kimberly D. Delehaunty, Kymberlie H. Pepin, Scott Martinka, Tony Gaige, Charlene Pearman, John R. Osborne
المصدر: Nature. 434(7034)
مصطلحات موضوعية: Primates, RNA, Untranslated, Centromere, Molecular Sequence Data, Biology, Euchromatin, Chromosome 16, Chromosome 19, Gene Duplication, Animals, Humans, RNA, Messenger, Conserved Sequence, Genetics, Expressed Sequence Tags, Recombination, Genetic, Base Composition, Multidisciplinary, Polymorphism, Genetic, Base Sequence, Genetic Variation, Proteins, Genomics, Sequence Analysis, DNA, Physical Chromosome Mapping, Chromosome 17 (human), Chromosome 4, Chromosome 3, Chromosomes, Human, Pair 2, CpG Islands, Chromosome 20, Chromosomes, Human, Pair 4, Chromosome 21, Chromosome 22, Pseudogenes
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المؤلفون: Kim D. Delehaunty, Shawn Leonard, Andrew Delehaunty, Philip Ozersky, Holland S. Cordum, Tamberlyn Bieri, Steve Rozen, Susan M. Rock, David C. Page, LaDeana W. Hillier, Lucinda Fulton, Aye Mon Tin-Wollam, Hui Du, Helen Skaletsky, Asif T. Chinwalla, Sjoerd Repping, Tomoko Kuroda-Kawaguchi, Tina Graves, Ginger A. Fewell, Robert S. Fulton, William E. Nash, Tatyana Pyntikova, Elaine R. Mardis, Brian Schultz, Tracie L. Miner, Christine Nguyen, Cindy Strong, Tracy Rohlfing, Kelsi Scott, Robert H. Waterston, Kymberlie H. Pepin, John Douglas Mcpherson, Shiaw-Pyng Yang, Johar Ali, Philip Latrielle, Laura G. Brown, Rachel Maupin, Richard K. Wilson, Patrick Minx, Shunfang Hou
المساهمون: ARD - Amsterdam Reproduction and Development, Center for Reproductive Medicine
المصدر: Nature, 423(6942), 825-U2. Nature Publishing Group
مصطلحات موضوعية: Male, Euchromatin, Transcription, Genetic, Heterochromatin, Gene Conversion, BPY2, Biology, Y chromosome, Evolution, Molecular, Species Specificity, Sequence Homology, Nucleic Acid, Testis, Humans, Crossing Over, Genetic, Transducin, X chromosome, In Situ Hybridization, Fluorescence, Genetics, Chromosomes, Human, X, Sex Characteristics, Multidisciplinary, Autosome, Chromosomes, Human, Y, Models, Genetic, Gene Amplification, Chromosome, Sex Determination Processes, Genes, Organ Specificity, Multigene Family, Y linkage, DNA Transposable Elements, Female, Pseudogenes
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المؤلفون: Laura Courtney, Eric D. Green, Rachel E. Ellsworth, Jeffrey W. Touchman, Stephanie L. Chissoe, Tracie L. Miner, Lauren A. Weintraub, Valerie Maduro, Jason B. Kramer, Kimberley Kemp, Ian F Korf, Kimberlie Pepin, Robert S. Fulton, Lucinda Antonacci-Fulton, Webb Miller, Robert H. Waterston, Theresa Rohlfing, Richard K. Wilson, Patrick Minx, LaDeana W. Hillier, Gerard G. Bouffard, D. Curtis Jamison, Leslie M. Iyer, Jennifer Edwards, Rachel Maupin, Stephen M. Beckstrom-Sternberg, Marc Cotton, Patricia Wohldmann, Nicole Dietrich, Philip Ozersky
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 97(3)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Sequence analysis, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Sequence alignment, Context (language use), Biology, Regulatory Sequences, Nucleic Acid, Cystic fibrosis, Complete sequence, Mice, Species Specificity, Sequence Homology, Nucleic Acid, medicine, Animals, Humans, Gene, Genetics, Multidisciplinary, respiratory system, Biological Sciences, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Human genetics, digestive system diseases, respiratory tract diseases, Mice, Inbred C57BL, Genes, biology.protein, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6312f32d1f18f46a85f5a7e3daf4fc
https://pubmed.ncbi.nlm.nih.gov/10655503 -
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المؤلفون: Peter Westervelt, John L. Frater, Timothy J. Ley, Heather Schmidt, Jin Shao, Dong Shen, David J. Dooling, Elaine R. Mardis, Ken Chen, Robert S. Fulton, John F. DiPersio, Li Ding, Timothy A. Graubert, Michael D. McLellan, Rachel Maupin, Michelle O'Laughlin, Richard K. Wilson, Sarah E. Witowski, Daniel C. Koboldt, Matthew J. Walter
المصدر: Blood. 116:299-299
مصطلحات موضوعية: Whole genome sequencing, Genetics, Monosomy, Immunology, Single-nucleotide polymorphism, Cell Biology, Hematology, Biology, Gene mutation, medicine.disease, Biochemistry, Genome, hemic and lymphatic diseases, medicine, Chromosome 20, Gene, Allele frequency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cb092c4d6a0e756100d27853dc96283a
https://doi.org/10.1182/blood.v116.21.299.299 -
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المؤلفون: Jennifer Ivanovich, Heather Schmidt, Daniel C. Link, Robert S. Fulton, Rachel Maupin, Ken Chen, Rakesh Nagarajan, Matthew J. Walter, Michael D. McLellan, Richard K. Wilson, Michelle O'Laughlin, Nobish Varghese, Li Ding, Timothy A. Graubert, Shashikant Kulkarni, David J. Dooling, Daniel C. Koboldt, Timothy J. Ley, Dong Shen, Laura G. Schuettpelz, Elaine R. Mardis, Michelle M. LeBeau
المصدر: Blood. 116:580-580
مصطلحات موضوعية: Whole genome sequencing, Genetics, Immunology, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Uniparental disomy, Fusion gene, Loss of heterozygosity, Leukemia, Fusion transcript, medicine, Genotyping, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6a6b7ad190aed5bd7c35cc73c959a6b
https://doi.org/10.1182/blood.v116.21.580.580 -
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المؤلفون: Primo Baybayan, Benson Chau, Chen-Shan Chin, Rachel Maupin, Kevin Travers, Vince Magrini, Michael D. McLellan, John Eid, Todd Wylie, Jason Londry, Elaine R. Mardis
المصدر: Cancer Research. 70:1159-1159
مصطلحات موضوعية: Cancer genome sequencing, Genetics, Cancer Research, education.field_of_study, Population, Cancer, Context (language use), Biology, medicine.disease, Genome, genomic DNA, Oncology, medicine, education, Gene, Single molecule real time sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a9c875679f586b63b4df0cd0cd686d80
https://doi.org/10.1158/1538-7445.am10-1159