Gil Atzmon
2002–2025 年に発表
- 88
- 論文数
- 30,992
- 被引用数
- 64
- h 指数
- 86
- i10 指数
被引用数
引用元
国・地域
機関
- Harvard University1.4%
- Broad Institute1.1%
- Massachusetts General Hospital0.9%
- Inserm0.6%
- Brigham and Women's Hospital0.6%
- Stanford University0.6%
- その他94.8%
分野
- Biochemistry, Genetics and Molecular Biology47.9%
- Medicine42.1%
- Neuroscience3.1%
- Immunology and Microbiology2.8%
- Psychology0.7%
- Nursing0.7%
- その他2.7%
トピック
- Genomics and Rare Diseases4.7%
- Genetic Associations and Epidemiology4%
- Acute Myeloid Leukemia Research4%
- Cancer Genomics and Diagnostics3.2%
- Epigenetics and DNA Methylation2.3%
- Genetics, Aging, and Longevity in Model Organisms2.1%
- その他79.7%
共著者
- Nir Barzilai54
- Eric Banks11
- Jessica Alföldi11
- Laurent C. Francioli10
- Ryan L. Collins10
- Yossi Farjoun10
- Laura D. Gauthier9
- Louis Bergelson9
- Stacey Gabriel9
- Aviv Bergman8
- Harry Ostrer8
- Konrad J. Karczewski8
- Nicholas A. Watts8
- Beryl B. Cummings7
- Irina M. Armean7
- Miguel Covarrubias7
- Radhika Muzumdar7
- Stacey Donnelly7
- Steven Ferriera7
- Derek M. Huffman6
- Julia K. Goodrich6
- Kristen M. Laricchia6
- Lital Sharvit6
- Mark J. Daly6
全論文
- The mutational constraint spectrum quantified from variation in 141,456 humans
著者: Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop ほか 77 名 - Nature 2020 被引用: 10,328
- Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
著者: Siddhartha Jaiswal, Pierre Fontanillas, Jason Flannick, Alisa K. Manning, Peter Grauman, Brenton G. Mar, R. Coleman Lindsley, Craig H. Mermel, Noël P. Burtt, Alejandro Chavez, John M. Higgins, Vladislav Moltchanov, Frank C. Kuo, Michael Kluk, Brian E. Henderson, Leena Kinnunen, Heikki A. Koistinen, Claes Ladenvall, Gad Getz, Adolfo Correa, Benjamin F. Banahan, Stacey Gabriel, Sekar Kathiresan, Heather M. Stringham, Mark I. McCarthy, Michael Boehnke, Jaakko Tuomilehto, Christopher Haiman, Leif Groop, Gil Atzmon, James G. Wilson, Donna Neuberg, David Altshuler, Benjamin L. Ebert - New England Journal of Medicine 2014 被引用: 4,743
- A genomic mutational constraint map using variation in 76,156 human genomes
著者: Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. Wang, Jessica Alföldi, Nicholas A. Watts, Christopher Vittal, Laura D. Gauthier, Timothy Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T. Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, María T. Abreu, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Irina M. Armean, Elizabeth G. Atkinson, Gil Atzmon, John Barnard, Samantha Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, Harrison Brand, Steven R. Brant, Ted Brookings, Sam Bryant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C.N. Chan, Katherine R. Chao, Sinéad B. Chapman, Daniel I. Chasman, Rex L. Chisholm, Judy H. Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce M. Cohen, Kristen M. Connolly, Adolfo Correa, Beryl B. Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Phil Darnowsky, Joshua C. Denny, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Diane Fatkin, José C. Florez, André Franke, Jack Fu, Martti Färkkilâ, Kiran Garimella, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Gläser, Stephen J. Glatt, David B. Goldstein ほか 138 名 - Nature 2023 被引用: 1,411
- A structural variation reference for medical and population genetics
著者: Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Genome Aggregation Database Production Team, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, J. A. Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa ほか 108 名 - Nature, Nat. 2020 被引用: 1,190
- Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis
著者: Miriam S. Udler, Jaegil Kim, Marcin von Grotthuss, Sílvia Bonàs‐Guarch, Joanne B. Cole, Joshua Chiou, Christopher D. Anderson on behalf of METASTROKE and the ISGC, Michael Boehnke, Markku Laakso, Gil Atzmon, Benjamin Gläser, Josep M. Mercader, Kyle J. Gaulton, Jason Flannick, Gad Getz, José C. Florez - PLoS Medicine 2018 被引用: 564
- Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
著者: Dongmei Yu, Jae Hoon Sul, Fotis Tsetsos, Muhammad Sulaman Nawaz, Alden Y. Huang, Ivette Zelaya, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten Müller‐Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, H.N. Aschauer, M. Stamenković, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas Fernandez, Csaba Barta, Zsanett Tárnok, Péter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Daniëlle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston M. Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Pétur Lúðvígsson, Evald Sæmundsen, Ólafur Thorarensen, Gil Atzmon, Nir Barzilai, Michael Wagner, Rainald Moessner, Roel A. Ophoff, Carlos N. Pato, Michele T. Pato, James A. Knowles, Joshua L. Roffman, Jordan W. Smoller, Randy L. Buckner, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Hreinn Stefánsson, Kāri Stefánsson, Daniëlle Posthuma, Nancy J. Cox, David L. Pauls, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Peristera Paschou, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf - American Journal of Psychiatry 2019 被引用: 443
- Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
著者: Aleksejs Sazonovs, Christine Stevens, Guhan Venkataraman, Kai Yuan, Brandon E. Avila, Maria T. Abreu, Tariq Ahmad, Matthieu Allez, Ashwin N. Ananthakrishnan, Gil Atzmon, Aris Baras, Jeffrey C. Barrett, Nir Barzilai, Laurent Beaugerie, Ashley Beecham, Charles N. Bernstein, Alain Bitton, Bernd Bokemeyer, Andrew Chan, Daniel C. Chung, Isabelle Cleynen, Jacques Cosnes, David J. Cutler, Allan Daly, Oriana M. Damas, Lisa W. Datta, Noor Dawany, Marcella Devoto, Sheila Dodge, Eva Ellinghaus, Laura Fachal, Martti Färkkilâ, William A. Faubion, Manuel A. R. Ferreira, Denis Franchimont, Stacey Gabriel, Tian Ge, Michel Georges, Kyle Gettler, Mamta Giri, Benjamin Gläser, Siegfried Goerg, Philippe Goyette, Daniel B. Graham, Eija Hämäläinen, Talin Haritunians, Graham Heap, Mikko Hiltunen, Marc P. Hoeppner, Julie Horowitz, Peter M. Irving, Vivek Iyer, Chaim Jalas, Judith R. Kelsen, Hamed Khalili, Barbara S. Kirschner, Kimmo Kontula, Jukka Koskela, Subra Kugathasan, Juozas Kupčinskas, Christopher A Lamb, Matthias Laudes, Chloé Lévesque, Adam P. Levine, James D. Lewis, Claire Liefferinckx, Britt-Sabina Loescher, Édouard Louis, John Mansfield, Sandra May, Jacob L. McCauley, Emebet Mengesha, Myriam Mni, Paul Moayyedi, Christopher J. Moran, Rodney D. Newberry, Sirimon O’Charoen, David T. Okou, Bas Oldenburg, Harry Ostrer, Aarno Palotie, Jean Paquette, Joel Pekow, Inga Peter, Marieke Pierik, Cyriel Y. Ponsioen, Nikolas Pontikos, Natalie J. Prescott, Ann E. Pulver, Souad Rahmouni, Daniel L Rice, Päivi Saavalainen, Bruce E. Sands, R. Balfour Sartor, Elena Schiff, Stefan Schreiber, L. Philip Schumm, Anthony W. Segal, Philippe Seksik, Rasha Shawky ほか 33 名 - Nature Genetics 2022 被引用: 189
- A meta-analysis of genome-wide association studies identifies multiple longevity genes
著者: Joris Deelen, Daniel S. Evans, Dan E. Arking, Niccoló Tesi, Marianne Nygaard, Xiaomin Liu, Mary K. Wojczynski, Mary L. Biggs, Ashley van der Spek, Gil Atzmon, Erin B. Ware, Chloé Sarnowski, Albert V. Smith, Ilkka Seppälä, Heather J. Cordell, Janina Dose, Najaf Amin, Alice M. Arnold, Kristin L. Ayers, Nir Barzilai, Elizabeth J. Becker, Marian Beekman, Hélène Blanché, Kaare Christensen, Lene Christiansen, Joanna Collerton, Sarah Cubaynes, Steven R. Cummings, Karen Davies, Birgit Debrabant, Jean‐François Deleuze, Rachel Duncan, Jessica D. Faul, Claudio Franceschi, Pilar Galán, Vilmundur Guðnason, Tamara B. Harris, Martijn Huisman, Mikko Hurme, Carol Jagger, Iris E. Jansen, Marja Jylhä, Mika Kähönen, David Karasik, Sharon L. R. Kardia, Andrew Kingston, Thomas B. L. Kirkwood, Lenore J. Launer, Terho Lehtimäki, Wolfgang Lieb, Leo‐Pekka Lyytikäinen, Carmen Martín-Ruiz, Junxia Min, Almut Nebel, Anne B. Newman, Chao Nie, Ellen A. Nøhr, Eric Orwoll, Thomas T. Perls, Michael A. Province, Bruce M. Psaty, Olli Raitakari, Marcel Reinders, Jean‐Marie Robine, Jerome I. Rotter, Paola Sebastiani, Jennifer A. Smith, Thorkild I. A. Sørensen, Kent D. Taylor, André G. Uitterlinden, Wiesje M. van der Flier, Sven J. van der Lee, Cornelia M. van Duijn, Diana van Heemst, James W. Vaupel, David R. Weir, Kenny Ye, Yi Zeng, Wanlin Zheng, Henne Holstege, Douglas P. Kiel, Kathryn L. Lunetta, P. Eline Slagboom, Joanne M. Murabito - Nature Communications 2019 被引用: 404
- Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
著者: Ken Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manual Rivas, Adam P. Levine, Xiuliang Bao, Philippe Ronel Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena Schiff, Nikolas Pontikos, Nir Barzilai, Steven R. Brant, Susan Bressman, Adam S. Cheifetz, Lorraine N. Clark, Mark J. Daly, Robert J. Desnick, Richard H. Duerr, Seymour Katz, Todd Lencz, Richard H. Myers, Harry Ostrer, Laurie J. Ozelius, Haydeh Payami, Yakov Peter, John D. Rioux, Anthony W. Segal, William K. Scott, Mark S. Silverberg, Jeffery M. Vance, Iban Ubarretxena‐Belandia, Tatiana Foroud, Gil Atzmon, Itsik Pe’er, Yiannis A. Ioannou, Dermot McGovern, Zhenyu Yue, Eric E. Schadt, Judy H. Cho, Inga Peter - Science Translational Medicine 2018 被引用: 408
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
著者: Broad Genomics Platform, Jason Flannick, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, AMP-T2D-GENES, Josep M. Mercader, Christian Fuchsberger, Miriam S. Udler, Anubha Mahajan, Jennifer Wessel, Tanya M. Teslovich, Lizz Caulkins, Ryan Koesterer, Francisco Barajas‐Olmos, Thomas W. Blackwell, Eric Boerwinkle, Jennifer A. Brody, Federico Centeno-Cruz, Chen Ling, Siying Chen, Cecilia Contreras-Cubas, Emilio J. Córdova, Adolfo Correa, Maria L. Cortés, Ralph A. DeFronzo, Lawrence M. Dolan, Kimberly L. Drews, Amanda Elliott, James S. Floyd, Stacey Gabriel, María Eugenia Garay-Sevilla, Humberto Garcia‐Ortíz, Myron Gross, Sohee Han, Nancy L. Heard‐Costa, Anne Jackson, Marit E. Jørgensen, Hyun Min Kang, Megan M. Kelsey, Bong-Jo Kim, Heikki A. Koistinen, Johanna Kuusisto, Joseph B. Leader, Allan Linneberg, Ching‐Ti Liu, Jianjun Liu, Valeriya Lyssenko, Alisa K. Manning, Anthony Marcketta, Juan Manuel Malacara-Hernández, Angélica Martínez‐Hernández, Karen Matsuo, Elizabeth J. Mayer‐Davis, Elvia Mendoza‐Caamal, Karen L. Mohlke, Alanna C. Morrison, Anne Ndungu, Maggie Ng, Colm O’Dushlaine, A. J. Payne, Catherine Pihoker, Wendy S. Post, Michael Preuß, Bruce M. Psaty, Ramachandran S. Vasan, N. William Rayner, Alexander P. Reiner, M. Revilla, Neil R. Robertson, Nicola Santoro, Claudia Schurmann, Wing Yee So, Xavier Soberón, Heather M. Stringham, Tim M. Strom, Claudia H. T. Tam, Farook Thameem, Brian Tomlinson, Jason Torres, Russell P. Tracy, Rob M. van Dam, Marijana Vujković, Shuai Wang, Ryan Welch, Daniel R. Witte, Tien Yin Wong, Gil Atzmon, Nir Barzilai, John Blangero, Lori L. Bonnycastle, Donald W. Bowden, John C. Chambers, Edmund Chan, Ching‐Yu Cheng, Yoon Shin Cho ほか 73 名 - Nature 2019 被引用: 338
- Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
著者: Jason Flannick, Guðmar Þorleifsson, Nicola L. Beer, Suzanne B.R. Jacobs, Niels Grarup, Noël P. Burtt, Anubha Mahajan, Christian Fuchsberger, Gil Atzmon, Rafn Benediktsson, John Blangero, D. W. Bowden, Ivan Brandslund, Julia Brosnan, Frank Burslem, John C. Chambers, Yoon Shin Cho, Cramer Christensen, Desirée A. Douglas, Ravindranath Duggirala, Zachary Dymek, Yossi Farjoun, Timothy R. Fennell, Pierre Fontanillas, Tom Forsén, Stacey Gabriel, Benjamin Gläser, Daníel F. Guðbjartsson, Craig L. Hanis, Torben Hansen, Ástráður B. Hreiðarsson, Kristian Hveem, Erik Ingelsson, Bo Isomaa, Stefan Johansson, Torben Jørgensen, Marit E. Jørgensen, Sekar Kathiresan, Augustine Kong, Jaspal S. Kooner, Jasmina Kravić, Markku Laakso, Jong‐Young Lee, Lars Lind, Cecilia M. Lindgren, Allan Linneberg, Gísli Másson, Thomas Meitinger, Karen L. Mohlke, Anders Molven, Andrew P. Morris, Shobha Potluri, Rainer Rauramaa, Rasmus Ribel‐Madsen, Ann-Marie Richard, Tim Rolph, Veikko Salomaa, Ayellet V. Segrè, Hanna Skärstrand, Valgerður Steinthórsdóttir, Heather M. Stringham, Patrick Sulem, E Shyong Tai, Yik Ying Teo, Tanya M. Teslovich, Unnur Þorsteinsdóttir, Jeff K. Trimmer, Tiinamaija Tuomi, Jaakko Tuomilehto, Fariba Vaziri‐Sani, Benjamin F. Voight, James G. Wilson, Michael Boehnke, Mark I. McCarthy, Pål R. Njølstad, Oluf Pedersen, Leif Groop, David R. Cox, Kāri Stefánsson, David Altshuler - Nature Genetics 2014 被引用: 497
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
著者: Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schäfer, Owen J. L. Rackham, Jessica Alföldi, Anne O’Donnell‐Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, Nicholas A. Watts, Ben Weisburd, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop, Christopher Haiman, Craig L. Hanis, Matthew B. Harms, Mikko Hiltunen, Matti Holi ほか 71 名 - Nature Communications 2020 被引用: 191
- Evaluating drug targets through human loss-of-function genetic variation
著者: Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, Genome Aggregation Database Production Team, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric V. Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne H. O’Donnell-Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, Jose Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C. Chan, Daniel Chasman, Judy Cho, Mina K. Chung, Bruce Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, Jeanette Erdmann, Tõnu Esko, Martti Färkkilä, Jose Florez, Andre Franke, Gad Getz, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Christopher Haiman, Craig Hanis ほか 74 名 - Nature 2020 被引用: 181
- Transcript expression-aware annotation improves rare variant interpretation
著者: Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer‐Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell‐Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, Genome Aggregation Database Production Team, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein ほか 78 名 - Nature 2020 被引用: 202
- APOEAlleles and Extreme Human Longevity
著者: Paola Sebastiani, Anastasia Gurinovich, Marianne Nygaard, Takashi Sasaki, Benjamin Sweigart, Harold Bae, Stacy L. Andersen, Francesco Villa, Gil Atzmon, Kaare Christensen, Yasumichi Arai, Nir Barzilai, Annibale Alessandro Puca, Lene Christiansen, Nobuyoshi Hirose, Thomas T. Perls - The Journals of Gerontology Series A 2018 被引用: 163
- Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
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