Search Results - Gabriel, Stacey B.

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  1. 1
    Technological considerations for genome-guided diagnosis and management of cancer

    Technological considerations for genome-guided diagnosis and management of cancer by Lennon, Niall J., Adalsteinsson, Viktor A., Gabriel, Stacey B.

    Published 2016
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  2. 2
    Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease

    Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease by Chatterjee, Sumantra, Nandakumar, Priyanka, Auer, Dallas R., Gabriel, Stacey B., Chakravarti, Aravinda

    Published 2019
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  3. 3
    Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

    Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance by Friedman, Jennifer, Olvera, Jesus, Silhavy, Jennifer L., Gabriel, Stacey B., Gleeson, Joseph G.

    Published 2012
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  4. 4
    Pacific biosciences sequencing technology for genotyping and variation discovery in human data

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

    Published 2012
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  5. 5
    Estimating epidemiologic dynamics from cross-sectional viral load distributions

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

    Published 2021
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  6. 6
    Estimating epidemiologic dynamics from cross-sectional viral load distributions

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

    Published 2021
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  7. 7
    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 by Drier, Yotam, Lawrence, Michael S., Carter, Scott L., Stewart, Chip, Gabriel, Stacey B., Lander, Eric S., Meyerson, Matthew, Beroukhim, Rameen, Getz, Gad

    Published 2013
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  8. 8
    Discovery and saturation analysis of cancer genes across 21 tumor types

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

    Published 2014
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  9. 9
    Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

    Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes by Majithia, Amit R., Flannick, Jason, Shahinian, Peter, Guo, Michael, Bray, Mark-Anthony, Fontanillas, Pierre, Gabriel, Stacey B., Rosen, Evan D., Altshuler, David

    Published 2014
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  10. 10
    Cross-sectional assessment of SARS-CoV-2 viral load by symptom status in Massachusetts congregate living facilities

    Cross-sectional assessment of SARS-CoV-2 viral load by symptom status in Massachusetts congregate living facilities by Lennon, Niall J, Bhattacharyya, Roby P, Mina, Michael J, Rehm, Heidi L, Hung, Deborah T, Smole, Sandra, Woolley, Ann, Lander, Eric S, Gabriel, Stacey B

    Published 2021
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  11. 11
    Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 Schools

    Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 Schools by Simas, Alexandra M., Crott, Jimmy W., Sedore, Chris, Rohrbach, Augusta, Monaco, Anthony P., Gabriel, Stacey B., Lennon, Niall, Blumenstiel, Brendan, Genco, Caroline A.

    Published 2021
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  12. 12
    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 by Peloso, Gina M., Demissie, Serkalem, Collins, Dorothea, Mirel, Daniel B., Gabriel, Stacey B., Cupples, L. Adrienne, Robins, Sander J., Schaefer, Ernst J., Brousseau, Margaret E.

    Published 2010
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  13. 13
    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 by Mitt, Mario, Kals, Mart, Pärn, Kalle, Gabriel, Stacey B, Lander, Eric S, Palotie, Aarno, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit

    Published 2017
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  14. 14
    Spectrum of somatic mitochondrial mutations in five cancers

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

    Published 2012
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  15. 15
    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 by Chahrour, Maria H., Yu, Timothy W., Lim, Elaine T., Ataman, Bulent, Coulter, Michael E., Hill, R. Sean, Stevens, Christine R., Schubert, Christian R., Greenberg, Michael E., Gabriel, Stacey B., Walsh, Christopher A.

    Published 2012
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  16. 16
    Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia

    Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia by Rickman, Kimberly A., Lach, Francis P., Abhyankar, Avinash, Donovan, Frank X., Sanborn, Erica M., Kennedy, Jennifer A., Sougnez, Carrie, Gabriel, Stacey B., Elemento, Olivier, Chandrasekharappa, Settara C., Schindler, Detlev, Auerbach, Arleen D., Smogorzewska, Agata

    Published 2015
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  17. 17
    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 by Çalışkan, Minal, Chong, Jessica X., Uricchio, Lawrence, Anderson, Rebecca, Chen, Peixian, Sougnez, Carrie, Garimella, Kiran, Gabriel, Stacey B., DePristo, Mark A., Shakir, Khalid, Matern, Dietrich, Das, Soma, Waggoner, Darrel, Nicolae, Dan L., Ober, Carole

    Published 2011
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  18. 18
    High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing

    High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing by Wagle, Nikhil, Berger, Michael F., Davis, Matthew J., Blumenstiel, Brendan, DeFelice, Matthew, Pochanard, Panisa, Ducar, Matthew, Van Hummelen, Paul, MacConaill, Laura E., Hahn, William C., Meyerson, Matthew, Gabriel, Stacey B., Garraway, Levi A.

    Published 2011
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  19. 19
    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery by Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.

    Published 2016
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  20. 20
    Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

    Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation by Costello, Maura, Pugh, Trevor J., Fennell, Timothy J., Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Lander, Eric S., Fisher, Sheila, Getz, Gad

    Published 2013
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