Resultats de la cerca - Stacey Gabriel

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  1. 1
    Calibrating a coalescent simulation of human genome sequence variation

    Calibrating a coalescent simulation of human genome sequence variation per S. F. Schaffner, Catherine K. Foo, Stacey Gabriel, David Reich, Mark J. Daly, David Altshuler

    Publicat 2005
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  2. 2
    Pacific biosciences sequencing technology for genotyping and variation discovery in human data

    Pacific biosciences sequencing technology for genotyping and variation discovery in human data per Mauricio O. Carneiro, Carsten Russ, Michael Ross, Stacey Gabriel, Chad Nusbaum, Mark A. DePristo

    Publicat 2012
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  3. 3
    Phenotypic extremes in rare variant study designs

    Phenotypic extremes in rare variant study designs per Gina M. Peloso, Daniel J. Rader, Stacey Gabriel, Sekar Kathiresan, Mark J. Daly, Benjamin M. Neale

    Publicat 2015
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  4. 4
    Estimating epidemiologic dynamics from cross-sectional viral load distributions

    Estimating epidemiologic dynamics from cross-sectional viral load distributions per James A. Hay, Lee Kennedy‐Shaffer, Sanjat Kanjilal, Niall J. Lennon, Stacey Gabriel, Marc Lipsitch, Michael J. Mina

    Publicat 2021
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  5. 5
    Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

    Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability per Yotam Drier, Michael S. Lawrence, Scott L. Carter, Chip Stewart, Stacey Gabriel, Eric S. Lander, Matthew Meyerson, Rameen Beroukhim, Gad Getz

    Publicat 2012
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  6. 6
    Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease

    Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease per Sumantra Chatterjee, Ashish Kapoor, Jennifer A. Akiyama, Dallas R. Auer, Dongwon Lee, Stacey Gabriel, Courtney Berrios, L Pennacchio, Aravinda Chakravarti

    Publicat 2016
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  7. 7
    Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis

    Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis per Alexander G. Bick, James P. Pirruccello, Gabriel K. Griffin, Namrata Gupta, Stacey Gabriel, Danish Saleheen, Peter Libby, Sekar Kathiresan, Pradeep Natarajan

    Publicat 2019
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  8. 8
    A Novel <i>APOB</i> Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

    A Novel <i>APOB</i> Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia per Angelo B. Cefalù, James P. Pirruccello, Davide Noto, Stacey Gabriel, Vincenza Valenti, Namrata Gupta, Rossella Spina, Patrizia Tarugi, Sekar Kathiresan, Maurizio Averna

    Publicat 2013
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  9. 9
    Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

    Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples per Kristian Cibulskis, Michael S. Lawrence, Scott L. Carter, Andrey Sivachenko, David M. Jaffe, Carrie Sougnez, Stacey Gabriel, Matthew Meyerson, Eric S. Lander, Gad Getz

    Publicat 2013
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  10. 10
    Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk

    Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk per Sekar Kathiresan, Qiong Yang, Martin G. Larson, Amy L. Camargo, Geoffrey H. Tofler, Joel N. Hirschhorn, Stacey Gabriel, Christopher J. O’Donnell

    Publicat 2006
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  11. 11
    Triggered Palliative Care for Late-Stage Dementia: A Pilot Randomized Trial

    Triggered Palliative Care for Late-Stage Dementia: A Pilot Randomized Trial per Laura C. Hanson, Christine E. Kistler, Kyle Lavin, Stacey Gabriel, Natalie C. Ernecoff, Feng‐Chang Lin, Greg A. Sachs, Susan L. Mitchell

    Publicat 2018
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  12. 12
    Discovery and saturation analysis of cancer genes across 21 tumour types

    Discovery and saturation analysis of cancer genes across 21 tumour types per Michael S. Lawrence, Petar Stojanov, Craig H. Mermel, James Robinson, Levi A. Garraway, Todd R. Golub, Matthew Meyerson, Stacey Gabriel, Eric S. Lander, Gad Getz

    Publicat 2014
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  13. 13
    Whole exome sequencing identifies a splicing mutation in <i>NSUN2</i> as a cause of a Dubowitz-like syndrome

    Whole exome sequencing identifies a splicing mutation in <i>NSUN2</i> as a cause of a Dubowitz-like syndrome per Fernando J. Martínez, Jeong Ho Lee, Ji Eun Lee, Sandra Blanco, Elizabeth Nickerson, Stacey Gabriel, Michaela Frye, Lihadh Al‐Gazali, Joseph G. Gleeson

    Publicat 2012
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  14. 14
    Comparison of viral levels in individuals with or without symptoms at time of COVID-19 testing among 32,480 residents and staff of nursing homes and assisted living facilities in Massachusetts

    Comparison of viral levels in individuals with or without symptoms at time of COVID-19 testing among 32,480 residents and staff of nursing homes and assisted living facilities in M... per Niall J. Lennon, Roby P. Bhattacharyya, Michael J. Mina, Heidi L. Rehm, Deborah T. Hung, Sandra Smole, Ann E. Woolley, Eric S. Lander, Stacey Gabriel

    Publicat 2020
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  15. 15
    Germline Mutations Affecting Gα<sub>11</sub> in Hypoparathyroidism

    Germline Mutations Affecting Gα<sub>11</sub> in Hypoparathyroidism per Michael Mannstadt, Mark Harris, Bert Bravenboer, Sridhar Chitturi, Koen M.A. Dreijerink, David G. Lambright, Elaine T. Lim, Mark J. Daly, Stacey Gabriel, Harald Jüppner

    Publicat 2013
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  16. 16
    Spectrum of somatic mitochondrial mutations in five cancers

    Spectrum of somatic mitochondrial mutations in five cancers per Tatianna Larman, Steven R. DePalma, Angela Hadjipanayis, Alexei Protopopov, Jianhua Zhang, Stacey Gabriel, Lynda Chin, Christine E. Seidman, Raju Kucherlapati, Jonathan G. Seidman

    Publicat 2012
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  17. 17
    Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease

    Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease per Gina M. Peloso, Serkalem Demissie, Dorothea Collins, Daniel B. Mirel, Stacey Gabriel, L. Adrienne Cupples, Sander J. Robins, Ernst J. Schaefer, Margaret E. Brousseau

    Publicat 2010
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  18. 18
    Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

    Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel per Mario Mitt, Mart Kals, Kalle Pärn, Stacey Gabriel, Eric S. Lander, Aarno Palotie, Samuli Ripatti, Andrew P. Morris, Andres Metspalu, Tõnu Esko, Reedik Mägi, Priit Palta

    Publicat 2017
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  19. 19
    Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

    Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism per Maria H. Chahrour, Timothy W. Yu, Elaine T. Lim, Bulent Ataman, Michael E. Coulter, Robert Hill, Christine Stevens, Christian Schubert, Michael E. Greenberg, Stacey Gabriel, Christopher A. Walsh

    Publicat 2012
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  20. 20
    Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees

    Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees per Wendy Winckler, Simon Myers, Daniel J. Richter, Robert C. Onofrio, Gavin J. McDonald, Ronald E. Bontrop, Gil McVean, Stacey Gabriel, David Reich, Peter Donnelly, David Altshuler

    Publicat 2005
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