Skip to contents

  1. Korn, Joshua M; Kuruvilla, Finny G; McCarroll, Steven A; Wysoker, Alec; Nemesh, James; Cawley, Simon; Hubbell, Earl; Veitch, Jim; Collins, Patrick J; Darvishi, Katayoon; Lee, Charles; Nizzari, Marcia M; Gabriel, Stacey B; Purcell, Shaun; Daly, Mark J; Altshuler, David

    Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2008

    Published in: Nature Genetics, 40 (2008) 10, Seite 1253-1260

  2. McCarroll, Steven A; Hadnott, Tracy N; Perry, George H; Sabeti, Pardis C; Zody, Michael C; Barrett, Jeffrey C; Dallaire, Stephanie; Gabriel, Stacey B; Lee, Charles; Daly, Mark J; Altshuler, David M; The International HapMap Consortium

    Common deletion polymorphisms in the human genome

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2006

    Published in: Nature Genetics, 38 (2006) 1, Seite 86-92

  3. Genovese, Giulio; Kähler, Anna K.; Handsaker, Robert E.; Lindberg, Johan; Rose, Samuel A.; Bakhoum, Samuel F.; Chambert, Kimberly; Mick, Eran; Neale, Benjamin M.; Fromer, Menachem; Purcell, Shaun M.; Svantesson, Oscar; Landén, Mikael; Höglund, Martin; Lehmann, Sören; Gabriel, Stacey B.; Moran, Jennifer L.; Lander, Eric S.; Sullivan, Patrick F.; Sklar, Pamela; Grönberg, Henrik; Hultman, Christina M.; McCarroll, Steven A.

    Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Massachusetts Medical Society, 2014

    Published in: New England Journal of Medicine, 371 (2014) 26, Seite 2477-2487

  4. Brand, Harrison; Pillalamarri, Vamsee; Collins, Ryan L.; Eggert, Stacey; O’Dushlaine, Colm; Braaten, Ellen B.; Stone, Matthew R.; Chambert, Kimberly; Doty, Nathan D.; Hanscom, Carrie; Rosenfeld, Jill A.; Ditmars, Hillary; Blais, Jessica; Mills, Ryan; Lee, Charles; Gusella, James F.; McCarroll, Steven; Smoller, Jordan W.; Talkowski, Michael E.; Doyle, Alysa E.

    Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2014

    Published in: The American Journal of Human Genetics, 95 (2014) 4, Seite 454-461

  5. Ariel, Joan; Baum, Bruce; Cabezas, Amalia L.; De, Esha Niyogi; Fraser, Nancy; Harvey, Clodagh Brennan; Hawkesworth, Mary; Kearney, Mary Celeste; Manderson, Lenore; McCarroll, Stacey; Miller, Nancy K.; Naples, Nancy A.; Nelson, Lycette; Nye, Robert A.; Ostrom, Karen; Raissiguier, Catherine; Rubenstein, Steven L.; Shoemaker, Nancy; Stetson, Dorothy McBride; Wald, Gayle; Wardlow, Holly; Wyatt, Jean

    About the Contributors

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    University of Chicago Press, 2004

    Published in: Signs: Journal of Women in Culture and Society, 29 (2004) 4, Seite 1181-1185

  6. Purcell, Shaun M.; Moran, Jennifer L.; Fromer, Menachem; Ruderfer, Douglas; Solovieff, Nadia; Roussos, Panos; O’Dushlaine, Colm; Chambert, Kimberly; Bergen, Sarah E.; Kähler, Anna; Duncan, Laramie; Stahl, Eli; Genovese, Giulio; Fernández, Esperanza; Collins, Mark O.; Komiyama, Noboru H.; Choudhary, Jyoti S.; Magnusson, Patrik K. E.; Banks, Eric; Shakir, Khalid; Garimella, Kiran; Fennell, Tim; DePristo, Mark; Grant, Seth G. N.; [...]

    A polygenic burden of rare disruptive mutations in schizophrenia

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2014

    Published in: Nature, 506 (2014) 7487, Seite 185-190

  7. Greenway, Steven C; Pereira, Alexandre C; Lin, Jennifer C; DePalma, Steven R; Israel, Samuel J; Mesquita, Sonia M; Ergul, Emel; Conta, Jessie H; Korn, Joshua M; McCarroll, Steven A; Gorham, Joshua M; Gabriel, Stacey; Altshuler, David M; de Lourdes Quintanilla-Dieck, Maria; Artunduaga, Maria Alexandra; Eavey, Roland D; Plenge, Robert M; Shadick, Nancy A; Weinblatt, Michael E; De Jager, Philip L; Hafler, David A; Breitbart, Roger E; Seidman, Jonathan G; Seidman, Christine E

    De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2009

    Published in: Nature Genetics, 41 (2009) 8, Seite 931-935

  8. McCarroll, Steven A; Kuruvilla, Finny G; Korn, Joshua M; Cawley, Simon; Nemesh, James; Wysoker, Alec; Shapero, Michael H; de Bakker, Paul I W; Maller, Julian B; Kirby, Andrew; Elliott, Amanda L; Parkin, Melissa; Hubbell, Earl; Webster, Teresa; Mei, Rui; Veitch, James; Collins, Patrick J; Handsaker, Robert; Lincoln, Steve; Nizzari, Marcia; Blume, John; Jones, Keith W; Rava, Rich; Daly, Mark J; [...]

    Integrated detection and population-genetic analysis of SNPs and copy number variation

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2008

    Published in: Nature Genetics, 40 (2008) 10, Seite 1166-1174

  9. Ulirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; [...]

    The Genetic Landscape of Diamond-Blackfan Anemia

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics, 104 (2019) 2, Seite 356

  10. Ulirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; [...]

    The Genetic Landscape of Diamond-Blackfan Anemia

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics, 103 (2018) 6, Seite 930-947

  11. Lawrence, Michael S.; Stojanov, Petar; Polak, Paz; Kryukov, Gregory V.; Cibulskis, Kristian; Sivachenko, Andrey; Carter, Scott L.; Stewart, Chip; Mermel, Craig H.; Roberts, Steven A.; Kiezun, Adam; Hammerman, Peter S.; McKenna, Aaron; Drier, Yotam; Zou, Lihua; Ramos, Alex H.; Pugh, Trevor J.; Stransky, Nicolas; Helman, Elena; Kim, Jaegil; Sougnez, Carrie; Ambrogio, Lauren; Nickerson, Elizabeth; Shefler, Erica; [...]

    Mutational heterogeneity in cancer and the search for new cancer-associated genes

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2013

    Published in: Nature, 499 (2013) 7457, Seite 214-218

  12. Lek, Monkol; Karczewski, Konrad J.; Minikel, Eric V.; Samocha, Kaitlin E.; Banks, Eric; Fennell, Timothy; O’Donnell-Luria, Anne H.; Ware, James S.; Hill, Andrew J.; Cummings, Beryl B.; Tukiainen, Taru; Birnbaum, Daniel P.; Kosmicki, Jack A.; Duncan, Laramie E.; Estrada, Karol; Zhao, Fengmei; Zou, James; Pierce-Hoffman, Emma; Berghout, Joanne; Cooper, David N.; Deflaux, Nicole; DePristo, Mark; Do, Ron; Flannick, Jason; [...]

    Analysis of protein-coding genetic variation in 60,706 humans

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2016

    Published in: Nature, 536 (2016) 7616, Seite 285-291

  13. Mercader, Josep M.; Liao, Rachel G.; Bell, Avery D.; Dymek, Zachary; Estrada, Karol; Tukiainen, Taru; Huerta-Chagoya, Alicia; Moreno-Macías, Hortensia; Jablonski, Kathleen A.; Hanson, Robert L.; Walford, Geoffrey A.; Moran, Ignasi; Chen, Ling; Agarwala, Vineeta; Ordoñez-Sánchez, María Luisa; Rodríguez-Guillen, Rosario; Rodríguez-Torres, Maribel; Segura-Kato, Yayoi; García-Ortiz, Humberto; Centeno-Cruz, Federico; Barajas-Olmos, Francisco; Caulkins, Lizz; Puppala, Sobha; Fontanillas, Pierre; [...]

    A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Diabetes Association, 2017

    Published in: Diabetes, 66 (2017) 11, Seite 2903-2914

  14. Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Al Eissa, Mariam; Barchas, Jack D.; Bass, Nicholas; Bigdeli, Tim B.; Breen, Gerome; Bromet, Evelyn J.; Buckley, Peter F.; Bunney, William E.; Bybjerg-Grauholm, Jonas; Byerley, William F.; Chapman, Sinéad B.; Chen, Wei J.; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M.; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A.; Eskelinen, Saana; Fanous, Ayman H.; [...]

    Rare coding variants in ten genes confer substantial risk for schizophrenia

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2022

    Published in: Nature, 604 (2022) 7906, Seite 509-516

  15. Gudmundsson, Sanna; Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A.; Walters, Raymond K.; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; [...]

    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Nature, 597 (2021) 7874, Seite E3-E4

  16. Whiffin, Nicola; Karczewski, Konrad J.; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J.; Evans, D. Gareth; Roberts, Angharad M.; Quaife, Nicholas M.; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O’Donnell-Luria, Anne H.; Francioli, Laurent C.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; [...]

    Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications, 12 (2021) 1

  17. Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B.; Alföldi, Jessica; Francioli, Laurent C.; Gauthier, Laura D.; Hill, Andrew J.; O’Donnell-Luria, Anne H.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; [...]

    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Articles
    View online
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications, 12 (2021) 1