BetterScholar BetterScholar
13
Role
Title
Level Year L/R
🐜 Genetic effects on gene expression across human tissues
310 auth. F. Aguet, Andrew A. Brown, Stephane E. Castel, Joe R. Davis, Yuan He, Brian Jo, P. Mohammadi, YoSon Park, P. Parsana, A. Segrè, B. Strober, Zachary Zappala, Beryl B. Cummings, Ellen T. Gelfand, Kane Hadley, ... Katherine H. Huang, M. Lek, Xiao Li, Jared L. Nedzel, M. Noble, Timothy J. Sullivan, T. Tukiainen, D. MacArthur, Gaddy Getz, A. Addington, P. Guan, S. Koester, A. Little, N. Lockhart, Helen M. Moore, Abhi Rao, Jeffery P. Struewing, Simona Volpi, L. Brigham, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, G. Kopen, W. F. Leinweber, J. Lonsdale, Alisa McDonald, Bernadette Mestichelli, K. Myer, Brian Roe, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, J. Bridge, B. Foster, Bryan M. Gillard, E. Karasik, Rachna Kumar, Mark Miklos, M. T. Moser, Scott D. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, Deborah C. Mash, David A. Davis, Leslie Mary E. Philip A. Sobin Barcus Branton, L. Sobin, M. Barcus, P. Branton, Nathan S. Abell, Brunilda Balliu, O. Delaneau, Laure Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, Buhm Han, Amy Z. He, F. Hormozdiari, Xin Li, Boxiang Liu, Eun Yong Kang, Ian C. McDowell, H. Ongen, John Palowitch, Christine B. Peterson, G. Quon, S. Ripke, A. Saha, A. A. Shabalin, Tyler C. Shimko, J. Sul, Nicole A. Teran, Emily K. Tsang, Hailei Zhang, Yi-Hui Zhou, C. Bustamante, Nancy J. Cox, R. Guigó, M. Kellis, M. McCarthy, Don Conrad, E. Eskin, Gen Li, A. Nobel, C. Sabatti, Barbara E. Stranger, Xiaoquan Wen, Fred A. Wright, K. Ardlie, E. Dermitzakis, T. Lappalainen, F. Aguet, K. Ardlie, Beryl B. Cummings, Ellen T. Gelfand, Gaddy Getz, Kane Hadley, R. Handsaker, Katherine H. Huang, Seva Kashin, K. Karczewski, M. Lek, Xiao Li, D. MacArthur, Jared L. Nedzel, M. Noble, A. Segrè, Casandra A. Trowbridge, T. Tukiainen, Ruth Barshir, Omer Basha, A. Battle, G. Bogu, Andrew A. Brown, Christopher D. Brown, Lin S. Chen, Colby Chiang, Don Conrad, Nancy J. Cox, Farhan N. Damani, B. Engelhardt, E. Eskin, Pedro G. Ferreira, Laure Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, R. Guigó, I. Hall, Buhm Han, F. Hormozdiari, C. Howald, Hae Kyung Im, Brian Jo, Eun Yong Kang, Yungil Kim, Sarah Kim-Hellmuth, Boxiang Liu, S. Mangul, Ian C. McDowell, Jean Monlong, Stephen B Montgomery, Manuel Muñoz-Aguirre, Anne W. Ndungu, D. Nicolae, Meritxell Oliva, N. Panousis, Panagiotis K. Papasaikas, YoSon Park, Anthony J. Payne, J. Quan, F. Reverter, M. Sammeth, Alexandra J. Scott, A. A. Shabalin, Reza Sodaei, M. Stephens, Barbara E. Stranger, S. Urbut, M. van de Bunt, Gao Wang, Fred A. Wright, H. Xi, Esti Yeger-Lotem, Judith B. Zaugg, Yi-Hui Zhou, J. Akey, Daniel Bates, Joanne Chan, M. Claussnitzer, Kathryn Demanelis, Morgan Diegel, J. Doherty, A. Feinberg, Maria S. Fernando, J. Halow, Kasper D. Hansen, E. Haugen, P. Hickey, Lei Hou, F. Jasmine, Ruiqi Jian, Lihua Jiang, Audra K. Johnson, R. Kaul, M. Kellis, M. Kibriya, Kristen Lee, Jin Billy Li, Qin Li, Xiao Li, Jessica Lin, Shin Lin, Sandra Linder, C. Linke, Yaping Liu, M. Maurano, B. Molinie, Stephen B Montgomery, Jemma Nelson, Fidencio J. Neri, Yongjin P. Park, B. Pierce, Nicola J. Rinaldi, L. Rizzardi, R. Sandstrom, Andrew Skol, Kevin S. Smith, Michael P. Snyder, J. Stamatoyannopoulos, Hua Tang, L. Wang, M. Wang, Nicholas Van Wittenberghe, Fan Wu, Rui Zhang, C. Nierras, Philip A. Latarsha J. Ping Helen M. Abhi Jimmie B. Branton Carithers Guan Moore Rao Vaught, P. Branton, Latarsha J. Carithers, P. Guan, Helen M. Moore, Abhi Rao, J. Vaught, Sarah E. Nicole C. Casey Jeffery P. Simona Gould Lockart Martin Struewing Volpi, Sarah E. Gould, Nicole C. Lockart, Casey Martin, Jeffery P. Struewing, Simona Volpi, Anjene M. Susan E. Addington Koester, A. Addington, S. Koester, A. Little, L. Brigham, Mark Johnson, Brian Roe, Gary Walters, Michael Washington, Jason Barbara A. Bryan M. Ellen Rachna Mark Michael T. Bridge Foster Gillard Karasik Kumar Miklos Moser, Scott D. Robert G. Daniel C. Dana R. Jewell Montroy Rohrer Valley, Scott D. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, David A. Deborah C. Davis Mash, David A. Davis, Deborah C. Mash, Anita H. Undale, Anna M. Smith, D. Tabor, Nancy V. Roche, J. McLean, Negin Vatanian, Karna L. Robinson, L. Sobin, M. Barcus, Kimberly M. Valentino, L. Qi, Steven Hunter, P. Hariharan, Shilpi Singh, K. S. Um, Takunda Matose, M. Tomaszewski, Laura K. Maghboeba Laura A. Heather M. Barker Mosavel Siminoff Traino, Laura K. Barker, M. Mosavel, L. Siminoff, H. Traino, Paul Flicek, Thomas Juettemann, Magali Ruffier, Daniel Sheppard, K. Taylor, S. Trevanion, D. Zerbino, Brian Craft, M. Goldman, M. Haeussler, W. Kent, Christopher M. Lee, B. Paten, K. Rosenbloom, John Vivian, Jingchun Zhu
11 2017
11
🐜
🐬 LUMPY: a probabilistic framework for structural variant discovery
Ryan M. Layer, Colby Chiang, A. Quinlan, Ira M. Hall
10 2012
10
🐬
🐜 Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
253 auth. A. Barbeira, Scott P. Dickinson, Rodrigo Bonazzola, Jiamao Zheng, H. Wheeler, Jason M. Torres, E. Torstenson, Kaanan P. Shah, Tzintzuni I. Garcia, T. Edwards, E. Stahl, L. Huckins, F. Aguet, K. Ardlie, Beryl B. Cummings, ... Ellen T. Gelfand, G. Getz, Kane Hadley, R. Handsaker, Katherine H. Huang, Seva Kashin, K. Karczewski, M. Lek, Xiao Li, D. MacArthur, Jared L. Nedzel, D. T. Nguyen, M. Noble, A. Segrè, Casandra A. Trowbridge, T. Tukiainen, Nathan S. Abell, Brunilda Balliu, Ruth Barshir, Omer Basha, A. Battle, G. Bogu, A. Brown, Christopher D. Brown, Stephane E. Castel, Lin S. Chen, Colby Chiang, D. Conrad, Farhan N. Damani, Joe R. Davis, O. Delaneau, E. Dermitzakis, B. Engelhardt, E. Eskin, Pedro G. Ferreira, L. Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, R. Guigó, I. Hall, Buhm Han, Yuan He, F. Hormozdiari, C. Howald, Brian Jo, Eun Yong Kang, Yungil Kim, Sarah Kim-Hellmuth, T. Lappalainen, Gen Li, Xin Li, Boxiang Liu, S. Mangul, M. McCarthy, Ian C. McDowell, P. Mohammadi, Jean Monlong, S. Montgomery, Manuel Muñoz-Aguirre, Anne W. Ndungu, A. Nobel, Meritxell Oliva, H. Ongen, John Palowitch, N. Panousis, Panagiotis K. Papasaikas, YoSon Park, P. Parsana, Anthony J. Payne, Christine B. Peterson, J. Quan, F. Reverter, C. Sabatti, A. Saha, M. Sammeth, Alexandra J. Scott, A. Shabalin, Reza Sodaei, M. Stephens, B. Stranger, B. Strober, J. Sul, Emily K. Tsang, S. Urbut, M. van de Bunt, Gao Wang, Xiaoquan Wen, Fred A. Wright, H. Xi, Esti Yeger-Lotem, Zachary Zappala, Judith B. Zaugg, Yi-Hui Zhou, J. Akey, Daniel Bates, Joanne Chan, M. Claussnitzer, Kathryn Demanelis, Morgan Diegel, J. Doherty, A. Feinberg, Maria S. Fernando, J. Halow, Kasper D. Hansen, E. Haugen, P. Hickey, Lei Hou, F. Jasmine, Ruiqi Jian, Lihua Jiang, Audra K. Johnson, R. Kaul, Manolis Kellis, M. Kibriya, Kristen Lee, J. B. Li, Qin Li, Xiao Li, Jessica Lin, Shin Lin, Sandra Linder, C. Linke, Yaping Liu, M. Maurano, B. Molinie, Jemma Nelson, Fidencio J. Neri, Yongjin P. Park, B. Pierce, Nicola J. Rinaldi, L. Rizzardi, R. Sandstrom, Andrew Skol, Kevin S. Smith, Michael P. Snyder, J. Stamatoyannopoulos, Hua Tang, Li Wang, M. Wang, Nicholas Van Wittenberghe, Fan Wu, Rui Zhang, C. Nierras, Philip A. Latarsha J. Ping Helen M. Abhi Jimmie B. Branton Carithers Guan Moore Rao Vaught, P. Branton, Latarsha J. Carithers, P. Guan, Helen M. Moore, Abhi Rao, J. Vaught, Sarah E. Nicole C. Casey Jeffery P. Simona Gould Lockart Martin Struewing Volpi, Sarah E. Gould, Nicole C. Lockart, Casey Martin, J. Struewing, S. Volpi, Anjene M. Susan E. Addington Koester, A. Addington, S. Koester, A. Little, L. Brigham, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, G. Kopen, W. F. Leinweber, J. Lonsdale, Alisa McDonald, Bernadette Mestichelli, K. Myer, Brian Roe, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Jason Barbara A. Bryan M. Ellen Rachna Mark Michael T. Bridge Foster Gillard Karasik Kumar Miklos Moser, J. Bridge, B. Foster, Bryan M. Gillard, E. Karasik, Rachna Kumar, Mark Miklos, M. T. Moser, Scott D. Robert G. Daniel C. Dana R. Jewell Montroy Rohrer Valley, S. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, David A. Deborah C. Davis Mash, D. Davis, Deborah C. Mash, Anita H. Undale, Anna M. Smith, D. Tabor, Nancy V. Roche, J. McLean, Negin Vatanian, Karna L. Robinson, L. Sobin, M. Barcus, Kimberly M. Valentino, L. Qi, Steven Hunter, P. Hariharan, Shilpi Singh, K. S. Um, Takunda Matose, M. Tomaszewski, Laura K. Maghboeba Laura A. Heather M. Barker Mosavel Siminoff Traino, Laura K. Barker, M. Mosavel, L. Siminoff, H. Traino, Paul Flicek, Thomas Juettemann, Magali Ruffier, Daniel Sheppard, K. Taylor, S. Trevanion, D. Zerbino, Brian Craft, M. Goldman, M. Haeussler, W. Kent, Christopher M. Lee, B. Paten, K. Rosenbloom, John Vivian, Jingchun Zhu, D. Nicolae, N. Cox, H. Im
9 2016
9
🐜
🐜 Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
35 auth. M. Talkowski, J. Rosenfeld, Ian Blumenthal, V. Pillalamarri, Colby Chiang, Adrian Heilbut, C. Ernst, Carrie Hanscom, E. Rossin, Amelia M. Lindgren, S. Pereira, D. Ruderfer, Andrew W. Kirby, S. Ripke, D. Harris, ... J. Lee, Kyungsoo Ha, Hyung-Goo Kim, B. Solomon, A. Gropman, D. Lucente, K. Sims, Toshiro K. Ohsumi, M. Borowsky, S. Loranger, B. Quade, K. Lage, J. Miles, Bai-Lin Wu, Yiping Shen, B. Neale, L. Shaffer, M. Daly, C. Morton, J. Gusella
9 2012
9
🐜
🦁 SpeedSeq: Ultra-fast personal genome analysis and interpretation
9 auth. Colby Chiang, Ryan M. Layer, G. Faust, Michael R. Lindberg, David B. Rose, Erik P. Garrison, ... Gabor T. Marth, A. Quinlan, Ira M. Hall
8 2014
8
🦁
🦁 The impact of structural variation on human gene expression
13 auth. Colby Chiang, Alexandra J. Scott, Joe R. Davis, Emily K. Tsang, Xin Li, Yungil Kim, T. Hadzic, Farhan N. Damani, Liron Ganel, S. Montgomery, ... A. Battle, D. Conrad, Ira M. Hall
8 2016
8
🦁
🐜 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
149 auth. C. Redin, H. Brand, Ryan L. Collins, T. Kammin, Elyse B Mitchell, Jennelle C Hodge, Carrie Hanscom, V. Pillalamarri, C. Seabra, M. Abbott, Omar Abdul-Rahman, E. Åberg, Rhett Adley, S. Alcaraz-Estrada, F. Alkuraya, ... Y. An, M. Anderson, Caroline Antolik, K. Anyane-Yeboa, Joan F. Atkin, Tina M Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, E. Bongers, E. H. Brilstra, Chester W. Brown, H. Brüggenwirth, B. Callewaert, Colby Chiang, K. Corning, H. Cox, E. Cuppen, Benjamin Currall, T. Cushing, D. David, M. Deardorff, A. Dheedene, M. D’hooghe, B. Vries, Dawn L. Earl, H. Ferguson, Heather Fisher, David R Fitzpatrick, P. Gerrol, D. Giachino, J. Glessner, Troy J. Gliem, M. Grady, Brett H. Graham, Cristin Griffis, K. Gripp, A. Gropman, Andrea Hanson‐Kahn, David J Harris, M. Hayden, Rosamund Hill, R. Hochstenbach, Jodi D. Hoffman, R. J. Hopkin, M. W. Hubshman, A. M. Innes, M. Irons, M. Irving, J. Jacobsen, S. Janssens, T. Jewett, John P Johnson, M. Jongmans, Stephen Kahler, D. Koolen, J. Korzelius, P. Kroisel, Y. Lacassie, W. Lawless, E. Lemyre, K. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, E. Lose, D. Lucente, M. Macera, Poornima Manavalan, G. Mandrile, Carlo L. Marcelis, L. Margolin, Tamara Mason, D. Masser-Frye, Michael W. McClellan, Cinthya J Zepeda Mendoza, B. Menten, Sjors Middelkamp, L. Mikami, Emily J. Moe, S. Mohammed, T. Mononen, Megan Mortenson, Graciela Moya, A. Nieuwint, Zehra Ordulu, S. Parkash, Susan P Pauker, S. Pereira, Danielle L Perrin, K. Phelan, Raul E Piña Aguilar, P. Poddighe, Giulia Pregno, S. Raskin, L. Reis, W. Rhead, D. Rita, I. Renkens, F. Roelens, Jayla Ruliera, P. Rump, Samantha L. P. Schilit, R. Shaheen, R. Sparkes, Erica S. Spiegel, B. Stevens, M. Stone, Julia Tagoe, J. Thakuria, B. V. Bon, Jiddeke van de Kamp, I. Burgt, T. Essen, C. V. Ravenswaaij-Arts, M. V. Roosmalen, S. Vergult, Catharina M. L. Volker-Touw, Dorothy P Warburton, Matthew J. Waterman, S. Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, B. Levy, Han G. Brunner, N. Leeuw, W. Kloosterman, E. Thorland, Cynthia C Morton, J. Gusella, M. Talkowski
8 2016
8
🐜
🦁 Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
29 auth. Colby Chiang, J. Jacobsen, C. Ernst, Carrie Hanscom, Adrian Heilbut, Ian Blumenthal, Ryan E. Mills, A. Kirby, A. Kirby, Amelia M. Lindgren, S. Rudiger, C. Mclaughlan, C. Bawden, S. Reid, R. Faull, ... R. Snell, Ira M. Hall, Yiping Shen, Yiping Shen, Toshiro K. Ohsumi, M. Borowsky, M. J. Daly, M. J. Daly, Charles Lee, Cynthia C Morton, Cynthia C Morton, M. MacDonald, J. Gusella, M. Talkowski
7 2012
7
🦁
🐜 The impact of rare variation on gene expression across tissues
238 auth. Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis, Farhan N. Damani, Colby Chiang, Gaelen T. Hess, Zachary Zappala, B. Strober, Alexandra J. Scott, Amy Li, A. Ganna, M. Bassik, J. Merker, F. Aguet, ... K. Ardlie, Beryl B. Cummings, Ellen T. Gelfand, G. Getz, Kane Hadley, R. Handsaker, Katherine H. Huang, Seva Kashin, K. Karczewski, M. Lek, Xiao Li, D. MacArthur, Jared L. Nedzel, D. T. Nguyen, M. Noble, A. Segrè, Casandra A. Trowbridge, T. Tukiainen, Nathan S. Abell, Brunilda Balliu, Ruth Barshir, Omer Basha, A. Battle, G. Bogu, A. Brown, Christopher D. Brown, Stephane E. Castel, Lin S. Chen, D. Conrad, N. Cox, O. Delaneau, E. Dermitzakis, B. Engelhardt, E. Eskin, Pedro G. Ferreira, L. Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, R. Guigó, Ira M. Hall, B. Han, Yuan He, F. Hormozdiari, C. Howald, H. Im, Brian Jo, Eun Yong Kang, Sarah Kim-Hellmuth, T. Lappalainen, Gen Li, Boxiang Liu, S. Mangul, M. McCarthy, Ian C. McDowell, P. Mohammadi, Jean Monlong, S. Montgomery, Manuel Muñoz-Aguirre, Anne W. Ndungu, D. Nicolae, A. Nobel, Meritxell Oliva, H. Ongen, John Palowitch, N. Panousis, Panagiotis K. Papasaikas, YoSon Park, P. Parsana, Anthony J. Payne, Christine B. Peterson, J. Quan, F. Reverter, C. Sabatti, A. Saha, M. Sammeth, A. Shabalin, Reza Sodaei, M. Stephens, B. Stranger, J. Sul, S. Urbut, M. Bunt, Gao Wang, Xiaoquan Wen, F. Wright, H. Xi, Esti Yeger-Lotem, Judith B. Zaugg, Yi-Hui Zhou, J. Akey, Daniel Bates, Joanne Chan, M. Claussnitzer, Kathryn Demanelis, Morgan Diegel, J. Doherty, A. Feinberg, Maria S. Fernando, J. Halow, K. Hansen, E. Haugen, P. Hickey, Lei Hou, F. Jasmine, Ruiqi Jian, Lihua Jiang, Audra K. Johnson, R. Kaul, Manolis Kellis, M. Kibriya, Kristen Lee, J. B. Li, Qin Li, Jessica Lin, Shin Lin, Sandra Linder, C. Linke, Yaping Liu, M. Maurano, B. Molinie, Jemma Nelson, Fidencio J. Neri, Yongjin P. Park, B. Pierce, Nicola J. Rinaldi, L. Rizzardi, R. Sandstrom, Andrew Skol, Kevin S. Smith, M. Snyder, J. Stamatoyannopoulos, Hua Tang, Li Wang, Meng Wang, N. V. Wittenberghe, Fan Wu, Rui Zhang, C. Nierras, P. Branton, Latarsha J. Carithers, P. Guan, Helen M. Moore, Abhi Rao, J. Vaught, Sarah E. Gould, Nicole C. Lockart, Casey Martin, J. Struewing, S. Volpi, A. Addington, S. Koester, A. Little, L. Brigham, R. Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, G. Kopen, W. F. Leinweber, J. Lonsdale, Alisa McDonald, Bernadette Mestichelli, K. Myer, Brian Roe, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, J. Bridge, B. Foster, Bryan M. Gillard, E. Karasik, Rachna Kumar, Mark Miklos, M. T. Moser, S. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, D. Davis, D. Mash, Anita H. Undale, Anna M. Smith, D. Tabor, Nancy V. Roche, J. McLean, Negin Vatanian, Karna L. Robinson, L. Sobin, M. Barcus, Kimberly M. Valentino, L. Qi, Steven Hunter, P. Hariharan, Shilpi Singh, K. S. Um, Takunda Matose, M. Tomaszewski, Laura K. Barker, M. Mosavel, L. Siminoff, H. Traino, Paul Flicek, Thomas Juettemann, Magali Ruffier, Daniel Sheppard, K. Taylor, S. Trevanion, D. Zerbino, Brian Craft, M. Goldman, M. Haeussler, W. Kent, Christopher M. Lee, B. Paten, K. Rosenbloom, John Vivian, Jingchun Zhu
7 2016
7
🐜
🐜 Mapping and characterization of structural variation in 17,795 human genomes
137 auth. H. Abel, D. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, K. Kanchi, Ryan M. Layer, B. Neale, W. Salerno, C. Reeves, S. Buyske, G. Abecasis, Elizabeth L. Appelbaum, J. Baker, E. Banks, ... R. Bernier, Toby Bloom, M. Boehnke, E. Boerwinkle, E. Bottinger, S. Brant, E. Burchard, C. Bustamante, Lei Chen, Judy H. Cho, Rajiv Chowdhury, R. Christ, L. Cook, M. Cordes, L. Courtney, M. Cutler, M. Daly, S. Damrauer, R. Darnell, Tracie L. Deluca, H. Dinh, H. Doddapaneni, E. Eichler, P. Ellinor, A. M. Estrada, Y. Farjoun, A. Felsenfeld, T. Foroud, N. Freimer, C. Fronick, L. Fulton, R. Fulton, S. Gabriel, Liron Ganel, Shailu Gargeya, Goren Germer, D. Geschwind, R. Gibbs, D. Goldstein, M. Grove, N. Gupta, C. Haiman, Yi Han, D. Howrigan, Jianhong Hu, C. Hutter, I. Iossifov, Bo Ji, L. Jorde, G. Jun, J. Kane, C. J. Kang, H. Kang, S. Kathiresan, E. Kenny, Lily Khaira, Ziad Khan, A. Khera, C. Kooperberg, O. Krasheninina, W. Kraus, S. Kugathasan, M. Laakso, T. Lappalainen, A. Locke, R. Loos, Amy Ly, Robert M. Maier, T. Maniatis, L. Le Marchand, G. Marcus, R. Mayeux, D. McGovern, K. S. Mendoza, Vipin K. Menon, G. Metcalf, Z. Momin, Guiseppe Narzisi, J. Nelson, C. Nessner, R. Newberry, K. North, A. Palotie, U. Peters, J. Ponce, C. Pullinger, A. Quinlan, D. Rader, S. Rich, S. Ripatti, D. Roden, V. Salomaa, J. Santibanez, Svati H. Shah, M. B. Shoemaker, Heidi Sofia, Taylorlyn Stephan, C. Stevens, S. Targan, M. Taskinen, Kathleen M. Tibbetts, C. Tolonen, Tychele N. Turner, P. D. de Vries, Jason E. Waligorski, K. Walker, V. Wang, M. Wigler, R. Wilson, Lara Winterkorn, G. Wojcik, Jinchuan Xing, Erica P. Young, B. Yu, Yeting Zhang, T. Matise, D. Muzny, M. Zody, E. Lander, S. Dutcher, N. Stitziel, Ira M. Hall
7 2020
7
🐜
🐜 Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
35 auth. M. Talkowski, Sureni V. Mullegama, J. Rosenfeld, B. V. van Bon, Yiping Shen, E. Repnikova, J. Gastier-Foster, D. Thrush, S. Kathiresan, D. Ruderfer, Colby Chiang, Carrie Hanscom, C. Ernst, Amelia M. Lindgren, C. Morton, ... Y. An, C. Astbury, L. Brueton, K. Lichtenbelt, L. Adès, M. Fichera, C. Romano, J. Innis, C. Williams, D. Bartholomew, M. V. Van Allen, A. Parikh, Lilei Zhang, Bai-Lin Wu, R. Pyatt, S. Schwartz, L. Shaffer, B. D. de Vries, J. Gusella, S. Elsea
7 2011
7
🐜
🐜 Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
15 auth. M. Talkowski, C. Ernst, Adrian Heilbut, Colby Chiang, Carrie Hanscom, Amelia M. Lindgren, Andrew W. Kirby, Shangtao Liu, Bhavana Muddukrishna, Toshiro K. Ohsumi, ... Yiping Shen, M. Borowsky, M. Daly, C. Morton, J. Gusella
7 2011
7
🐜
🐜 Mutations in DCHS1 Cause Mitral Valve Prolapse
50 auth. R. Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming, K. Toomer, M. Leyne, M. Salani, M. Talkowski, H. Brand, Maelle Perrocheau, Charles Simpson, Christopher Jett, M. Stone, Florie A. Charles, Colby Chiang, ... Stacey N. Lynch, N. Bouatia-Naji, F. Delling, L. Freed, C. Tribouilloy, T. Le Tourneau, H. Lemarec, L. Fernández-Friera, J. Solis, D. Trujillano, S. Ossowski, X. Estivill, C. Dina, P. Bruneval, A. Chester, J. Schott, Kenneth D. Irvine, Yaopan Mao, A. Wessels, Tahirali Motiwala, M. Pucéat, Yoshikazu Tsukasaki, D. Menick, Harinath Kasiganesan, Xingju Nie, A. Broome, Katherine Williams, Amanda Johnson, R. Markwald, X. Jeunemaître, A. Hagège, R. Levine, D. Milan, R. Norris, S. Slaugenhaupt
7 2015
7
🐜