학술논문
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'학술논문'
에서 검색결과 152건 | 목록
1~20
Academic Journal
Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Orengo, James P.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tan, Queenie K.-G.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison; Reynolds, John J. ; Baratang, Nissan Vida ; Phillips, Jennifer B. ; Wegner, Jeremy ; McFarquhar, Ashley ; Higgs, Martin R. ; Christiansen, Audrey E. ; Lanza, Denise G. ; Seavitt, John R. ; Jain, Mahim ; Li, Xiaohui ; Parry, David A. ; Raman, Vandana ; Chitayat, David ; Chinn, Ivan K. ; Bertuch, Alison A. ; Schlesinger, Alan E. ; Earl, Dawn ; Bamshad, Michael ; Savarirayan, Ravi ; Doddapaneni, Harsha ; Muzny, Donna ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Bi, Weimin ; Emrick, Lisa ; Postlethwait, John ; Dickinson, Mary E. ; Beaudet, Arthur L. ; Ranza, Emmanuelle ; Huber, Celine ; Cormier-Daire, Valérie ; Shen, Wei ; Mao, Rong ; Heaney, Jason D. ; Bertola, Débora ; Yamamoto, Guilherme L. ; Baratela, Wagner A.R. ; Butler, Merlin G. ; Ali, Asim ; Adeli, Mehdi ; Cohn, Daniel H. ; Krakow, Deborah ; Jackson, Andrew P. ; Lees, Melissa ; Offiah, Amaka C. ; Carlston, Colleen M. ; Carey, John C. ; Stewart, Grant S. ; Campeau, Philippe M. ; Lee, Brendan
In The American Journal of Human Genetics 7 March 2019 104(3):422-438
Academic Journal
Shashi, Vandana ; Schoch, Kelly ; Spillmann, Rebecca ; Cope, Heidi ; Tan, Queenie K.-G. ; Walley, Nicole ; Pena, Loren ; McConkie-Rosell, Allyn ; Jiang, Yong-Hui ; Stong, Nicholas ; Need, Anna C. ; Goldstein, David B. ; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren DM.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison
In Genetics in Medicine January 2019 21(1):161-172
Academic Journal
Callens, Steven; Coucke, Paul; Dermaut, Bart; Hemelsoet, Dimitri; Poppe, Bruce; Steyaert, Wouter; Terryn, Wim; Van Coster, Rudy; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D’Souza, Precilla; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dillon, Ani; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Ferreira, Carlos; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Herzog, Matthew R.; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen M.; Huang, Yong; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Kohane, Isaac S.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Lipson, Allen; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Splinter, Kimberly; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sweetser, David A.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Valivullah, Zaheer M.; Vilain, Eric; Vogel, Tiphanie P.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Ward, Patricia A.; Waters, Katrina M.; Westerfield, Monte; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zastrow, Diane B.; Zheng, Allison; Marcogliese, Paul C. ; Koenig, Mary Kay ; Martínez-Agosto, Julián A. ; Herzog, Matthew ; Chen, Agnes H. ; Dickson, Patricia I. ; Lin, Henry J. ; Vera, Moin U. ; Salamon, Noriko ; Graham, John M., Jr. ; Ortiz, Damara ; Infante, Elena ; Chung, Hyung-Lok ; Zuo, Zhongyuan ; Lee, Pei-Tseng ; Kanca, Oguz ; Xia, Fan ; Smith, Edward C. ; Jasien, Joan ; Kansagra, Sujay ; Spiridigliozzi, Gail ; El-Dairi, Mays ; Lark, Robert ; Riley, Kacie ; Koeberl, Dwight D. ; Golden-Grant, Katie ; Wangler, Michael F. ; Mirzaa, Ghayda ; Lee, Brendan ; Nelson, Stanley F. ; Bellen, Hugo J.
In The American Journal of Human Genetics 2 August 2018 103(2):245-260
Academic Journal
Pena, Loren D.M. ; Jiang, Yong-Hui ; Schoch, Kelly ; Spillmann, Rebecca C. ; Walley, Nicole ; Stong, Nicholas ; Rapisardo Horn, Sarah ; Sullivan, Jennifer A. ; McConkie-Rosell, Allyn ; Kansagra, Sujay ; Smith, Edward C. ; El-Dairi, Mays ; Bellet, Jane ; Keels, Martha Ann ; Jasien, Joan ; Kranz, Peter G. ; Noel, Richard ; Nagaraj, Shashi K. ; Lark, Robert K. ; Wechsler, Daniel S.G. ; del Gaudio, Daniela ; Leung, Marco L. ; Hendon, Laura G. ; Parker, Collette C. ; Jones, Kelly L. ; Goldstein, David B. ; Shashi, Vandana ; Alejandro, Mercedes E.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Graham, Brett H.; Hanchard, Neil A.; Jain, Mahim; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Azamian, Mashid S.; Moretti, Paolo M.; Nicholas, Sarah K.; Orange, Jordan S.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Zhang, Jing; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Jiang, Yong-hui; Walley, Nicole M.; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walsh, Chris A.; Esteves, Cecilia; Holm, Ingrid A.; Kohane, Isaac S.; Mazur, Paul; McCray, Alexa T.; Might, Matthew; Ramoni, Rachel B.; Splinter, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jacob, Howard J.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; Newberry, J. Scott; Schroeder, Molly C.; Strong, Kimberly A.; Worthey, Elizabeth A.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Soldatos, Ariane G.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Dries, Annika M.; Fisher, Paul G.; Kohler, Jennefer N.; Waggott, Daryl M.; Wheeler, Matthew T.; Zornio, Patricia A.; Allard, Patrick; Barseghyan, Hayk; Dell'Angelica, Esteban C.; Dillon, Ani; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Lipson, Allen; Loo, Sandra K.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Zheng, Allison; Adams, Christopher J.; Burke, Elizabeth A.; Chao, Katherine R.; Davids, Mariska; Draper, David D.; Estwick, Tyra; Frisby, Trevor S.; Frost, Kate; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Gordon, Mary G.; Groden, Catherine A.; Hackbarth, Mary E.; Hardee, Isabel; Johnston, Jean M.; Koehler, Alanna E.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Levy, Denise J.; Liebendorfer, Adam P.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; McCarty, Alexandra J.; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sadozai, Sarah; Schaffer, Katherine E.; Sharma, Prashant; Thomas, Sara P.; Tolman, Nathanial J.; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Warburton, Mike; Weech, Alec A.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Lee, Paul R.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Cogan, Joy D.; Hamid, Rizwan; Newman, John H.; Phillips, John A., III; Robertson, Amy K.
In Genetics in Medicine April 2018 20(4):464-469
Academic Journal
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Nature Medicine. 25(6):911-919
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Adams, Christopher J.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mashid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Briere, Lauren C.; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Chao, Katherine R.; Clark, Gary D.; Cogan, Joy D.; Cooper, Cynthia M.; Craigen, William J.; Davids, Mariska; Dayal, Jyoti G.; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fisher, Paul G.; Frisby, Trevor S.; Frost, Kate; Gahl, William A.; Gartner, Valerie; Godfrey, Rena A.; Goheen, Mitchell; Golas, Gretchen A.; Goldstein, David B.; Gordon, Mary G.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Graham, Brett H.; Groden, Catherine A.; Gropman, Andrea L.; Hackbarth, Mary E.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; Handley, Lori H.; Hardee, Isabel; Herzog, Matthew R.; Holm, Ingrid A.; Howerton, Ellen M.; Jacob, Howard J.; Jain, Mahim; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Koehler, Alanna E.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krasnewich, Donna M.; Krieg, Elizabeth L.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Latham, Lea; Latour, Yvonne L.; Lau, C. Christopher; Lazar, Jozef; Lee, Brendan H.; Lee, Hane; Lee, Paul R.; Levy, Shawn E.; Levy, Denise J.; Lewis, Richard A.; Liebendorfer, Adam P.; Lincoln, Sharyn A.; Loomis, Carson R.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Mazur, Paul; McCarty, Alexandra J.; McConkie-Rosell, Allyn; McCray, Alexa T.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Mulvihill, John J.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Pena, Loren D.M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Ramoni, Rachel B.; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sadozai, Sarah; Schaffer, Katherine E.; Schoch, Kelly; Schroeder, Molly C.; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Silverman, Edwin K.; Sinsheimer, Janet S.; Soldatos, Ariane G.; Spillmann, Rebecca C.; Splinter, Kimberly; Stoler, Joan M.; Stong, Nicholas; Strong, Kimberly A.; Sullivan, Jennifer A.; Sweetser, David A.; Thomas, Sara P.; Tifft, Cynthia J.; Tolman, Nathanial J.; Toro, Camilo; Tran, Alyssa A.; Valivullah, Zaheer M.; Vilain, Eric; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Wangler, Michael F.; Warburton, Mike; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Weech, Alec A.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yu, Guoyun; Zornio, Patricia A.; Wang, Julia ; Al-Ouran, Rami ; Hu, Yanhui ; Kim, Seon-Young ; Wan, Ying-Wooi ; Chao, Hsiao-Tuan ; Comjean, Aram ; Mohr, Stephanie E. ; Perrimon, Norbert ; Liu, Zhandong
In The American Journal of Human Genetics 1 June 2017 100(6):843-853
Academic Journal
Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA.; Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.; Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Macnamara E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Armstrong J; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Prat C; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain.; Martínez-Monseny AF; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA.; Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Beck, D; Ferrada, MA; Sikora, KA; Ombrello, AK; Collins, JC; Pei, W; Balanda, N; Ross, DL; Cardona, DO; Wu, Z; Patel, B; Manthiram, K; Groarke, EM; Gutierrez-Rodrigues, F; Hoffmann, P; Rosenzweig, S; Nakabo, S; Dillon, LW; Hourigan, CS; Tsai, WL; Gupta, S; Carmona-Rivera, C; Asmar, AJ; Xu, L; Oda, H; Goodspeed, W; Barron, KS; Nehrebecky, M; Jones, A; Laird, RS; Deuitch, N; Rowczenio, D; Rominger, E; Wells, KV; Lee, C-CR; Wang, W; Trick, M; Wigerblad, G; Brooks, S; Dell’Orso, S; Deng, Z; Chae, JJ; Dulau-Florea, A; Malicdan, MCV; Novacic, D; Colbert, RA; Kaplan, MJ; Gadina, M; Savic, S; Lachmann, HJ; Abu-Asab, M; Solomon, BD; Retterer, K; Gahl, WA; Burgess, SM; Aksentijevich, I; Young, NS; Calvo, KR; Werner, A; Kastner, DL; Grayson, PC
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Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orange, Jordan S.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Goldstein, David B.; Stong, Nicholas; Cope, Heidi; Jiang, Yong-hui; McConkie-Rosell, Allyn; Pena, Loren DM.; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Aaron, Aday; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; High, Francis; Korrick, Susan; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Glanton, Emily; Holm, Ingrid A.; Kohane, Isaac S.; McCray, Alexa T.; Might, Matthew; LeBlanc, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; May, Thomas; Newberry, J. Scott; Schroeder, Molly C.; Worthey, Elizabeth A.; Batzli, Gabriel F.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Davidson, Jean M.; Dries, Annika M.; Enns, Gregory M.; Fernandez, Liliana; Fisher, Paul G.; Friedman, Noah D.; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Majcherska, Marta M.; Marwaha, Shruti; McCormack, Colleen E.; Merker, Jason D.; Reuter, Chloe M.; Sampson, Jacinda B.; Smith, Kevin S.; Waggott, Daryl M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Allard, Patrick; Barseghyan, Hayk; Butte, Manish J.; DellʼAngelica, Esteban C.; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Behnam, Babak; Burke, Elizabeth A.; DʼSouza, Precilla; Davids, Mariska; Draper, David D.; Estwick, Tyra; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Johnston, Jean M.; Lau, C. Christopher; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Morimoto, Marie; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sharma, Prashant; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Hamid, Rizwan; Newman, John H.; Phillips, John A., III; Robertson, Amy K.; Cogan, Joy D.
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Hratch Baghdassarian; Sarah A. Blackstone; Owen S. Clay; Rachael Philips; Brynja Matthiasardottir; Michele Nehrebecky; Vivian K. Hua; Rachael McVicar; Yang Liu; Suzanne M. Tucker; Davide Randazzo; Natalie Deuitch; Sofia Rosenzweig; Adam Mark; Roman Sasik; Kathleen M. Fisch; Pallavi Pimpale Chavan; Elif Eren; Norman R. Watts; Chi A. Ma; Massimo Gadina; Daniella M. Schwartz; Anwesha Sanyal; Giffin Werner; David R. Murdock; Nobuyuki Horita; Shimul Chowdhury; David Dimmock; Kristen Jepsen; Elaine F. Remmers; Raphaela Goldbach-Mansky; William A. Gahl; John J. O’Shea; Joshua D. Milner; Nathan E. Lewis; Johanna Chang; Daniel L. Kastner; Kathryn Torok; Hirotsugu Oda; Christopher D. Putnam; Lori Broderick
New England Journal of Medicine, vol 388, iss 24
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Ann Rheum Dis
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Daniella Muallem Schwartz; Moses M Kitakule; Brian LP Dizon; Cristhian Gutierrez-Huerta; Sarah A Blackstone; Aarohan M Burma; Aran Son; Natalie Deuitch; Sofia Rosenzweig; Hirsh Komarow; Deborah L Stone; Anne Jones; Michele Nehrebecky; Patrycja Hoffmann; Tina Romeo; Adriana Almeida de Jesus; Sara Alehashemi; Megha Garg; Sofia Torreggiani; Gina A Montealegre Sanchez; Katelin Honer; Gema Souto Adeva; Karyl S Barron; Ivona Aksentijevich; Amanda K Ombrello; Raphaela Goldbach-Mansky; Daniel L Kastner; Joshua D Milner; Pamela Frischmeyer-Guerrerio
Annals of the Rheumatic Diseases. 80:788-795
Academic Journal
David B. Beck; Marcela A. Ferrada; Keith A. Sikora; Amanda K. Ombrello; Jason C. Collins; Wuhong Pei; Nicholas Balanda; Daron L. Ross; Daniela Ospina Cardona; Zhijie Wu; Bhavisha Patel; Kalpana Manthiram; Emma M. Groarke; Fernanda Gutierrez-Rodrigues; Patrycja Hoffmann; Sofia Rosenzweig; Shuichiro Nakabo; Laura W. Dillon; Christopher S. Hourigan; Wanxia L. Tsai; Sarthak Gupta; Carmelo Carmona-Rivera; Anthony J. Asmar; Lisha Xu; Hirotsugu Oda; Wendy Goodspeed; Karyl S. Barron; Michele Nehrebecky; Anne Jones; Ryan S. Laird; Natalie Deuitch; Dorota Rowczenio; Emily Rominger; Kristina V. Wells; Chyi-Chia R. Lee; Weixin Wang; Megan Trick; James Mullikin; Gustaf Wigerblad; Stephen Brooks; Stefania Dell’Orso; Zuoming Deng; Jae J. Chae; Alina Dulau-Florea; May C.V. Malicdan; Danica Novacic; Robert A. Colbert; Mariana J. Kaplan; Massimo Gadina; Sinisa Savic; Helen J. Lachmann; Mones Abu-Asab; Benjamin D. Solomon; Kyle Retterer; William A. Gahl; Shawn M. Burgess; Ivona Aksentijevich; Neal S. Young; Katherine R. Calvo; Achim Werner; Daniel L. Kastner; Peter C. Grayson
New England Journal of Medicine, vol 383, iss 27
Academic Journal
Shyam K. Akula; Jack H. Marciano; Youngshin Lim; David Exposito-Alonso; Norma K. Hylton; Grace H. Hwang; Jennifer E. Neil; Nicole Dominado; Rosie K. Bunton-Stasyshyn; Janet H. T. Song; Maya Talukdar; Aloisia Schmid; Lydia Teboul; Alisa Mo; Taehwan Shin; Benjamin Finander; Samantha G. Beck; Rebecca C. Yeh; Aoi Otani; Xuyu Qian; Ellen M. DeGennaro; Fowzan S. Alkuraya; Sateesh Maddirevula; Gregory D. Cascino; Caterina Giannini; Lindsay C. Burrage; Jill A. Rosenfield; Shamika Ketkar; Gary D. Clark; Carlos Bacino; Richard A. Lewis; Rosalind A. Segal; J. Fernando Bazan; Kelly A. Smith; Jeffrey A. Golden; Ginam Cho; Christopher A. Walsh; David R. Adams; Aaron Aday; Mercedes E. Alejandro; Patrick Allard; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Eva Baker; Ashok Balasubramanyam; Hayk Barseghyan; Gabriel F. Batzli; Alan H. Beggs; Babak Behnam; Hugo J. Bellen; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; David P. Bick; Camille L. Birch; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lauren C. Briere; Elly Brokamp; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Manish J. Butte; Shan Chen; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D’Souza; Mariska Davids; Jean M. Davidson; Jyoti G. Dayal; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina M. Dipple; Naghmeh Dorrani; Daniel C. Dorset; Jessica Douglas; Emilie D. Douine; David D. Draper; Annika M. Dries; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Gregory M. Enns; Ascia Eskin; Cecilia Esteves; Tyra Estwick; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Noah D. Friedman; William A. Gahl; Rena A. Godfrey; Alica M. Goldman; David B. Goldstein; Sarah E. Gould; Jean-Philippe F. Gourdine; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Frances High; Ingrid A. Holm; Jason Hom; Ellen M. Howerton; Yong Huang; Fariha Jamal; Yong-hui Jiang; Jean M. Johnston; Angela L. Jones; Lefkothea Karaviti; Emily Kelley; David M. Koeller; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Donna M. Krasnewich; Joel B. Krier; Jennifer E. Kyle; Seema R. Lalani; C. Christopher Lau; Jozef Lazar; Kimberly LeBlanc; Brendan H. Lee; Hane Lee; Shawn E. Levy; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Thomas C. Markello; Ronit Marom; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Thomas May; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Jason D. Merker; Thomas O. Metz; Matthew Might; Ganesh Mochida; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; David R. Murdock; Jennifer L. Murphy; Donna M. Muzny; Michele E. Nehrebecky; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; Donna Novacic; Jordan S. Orange; James P. Orengo; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; Loren DM. Pena; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Jacinda B. Sampson; Susan L. Samson; Kelly Schoch; Daryl A. Scott; Lisa Shakachite; Prashant Sharma; Vandana Shashi; Rebecca Signer; Edwin K. Silverman; Janet S. Sinsheimer; Kevin S. Smith; Rebecca C. Spillmann; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; David A. Sweetser; Queenie K.-G. Tan; Wen-Haan Tan; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Tiina K. Urv; Eric Vilain; Tiphanie P. Vogel; Daryl M. Waggott; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jijun Wan; Michael F. Wangler; Patricia A. Ward; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; Monte Westerfield; Matthew T. Wheeler; Anastasia L. Wise; Lynne A. Wolfe; Elizabeth A. Worthey; Shinya Yamamoto; Yaping Yang; John Yang; Amanda J. Yoon; Guoyun Yu; Diane B. Zastrow; Chunli Zhao; Allison Zheng
Proc Natl Acad Sci U S A
Academic Journal
Monika Oláhová; Wan Hee Yoon; Kyle Thompson; Sharayu Jangam; Liliana Fernandez; Jean M. Davidson; Jennifer E. Kyle; Megan E. Grove; Dianna G. Fisk; Jennefer N. Kohler; Matthew Holmes; Annika M. Dries; Yong Huang; Chunli Zhao; Kévin Contrepois; Zachary Zappala; Laure Frésard; Daryl Waggott; Erika M. Zink; Young-Mo Kim; Heino M. Heyman; Kelly G. Stratton; Bobbie-Jo M. Webb-Robertson; David R. Adams; Mercedes E. Alejandro; Patrick Allard; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Hayk Barseghyan; Gabriel F. Batzli; Alan H. Beggs; Babak Behnam; Anna Bican; David P. Bick; Camille L. Birch; Devon Bonner; Braden E. Boone; Bret L. Bostwick; Lauren C. Briere; Donna M. Brown; Matthew Brush; Elizabeth A. Burke; Lindsay C. Burrage; Shan Chen; Gary D. Clark; Terra R. Coakley; Joy D. Cogan; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Precilla D’Souza; Mariska Davids; Jyoti G. Dayal; Esteban C. Dell’Angelica; Shweta U. Dhar; Ani Dillon; Katrina M. Dipple; Laurel A. Donnell-Fink; Naghmeh Dorrani; Daniel C. Dorset; Emilie D. Douine; David D. Draper; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Ascia Eskin; Cecilia Esteves; Tyra Estwick; Carlos Ferreira; Brent L. Fogel; Noah D. Friedman; William A. Gahl; Emily Glanton; Rena A. Godfrey; David B. Goldstein; Sarah E. Gould; Jean-Philippe F. Gourdine; Catherine A. Groden; Andrea L. Gropman; Melissa Haendel; Rizwan Hamid; Neil A. Hanchard; Lori H. Handley; Matthew R. Herzog; Ingrid A. Holm; Jason Hom; Ellen M. Howerton; Howard J. Jacob; Mahim Jain; Yong-hui Jiang; Jean M. Johnston; Angela L. Jones; Isaac S. Kohane; Donna M. Krasnewich; Elizabeth L. Krieg; Joel B. Krier; Seema R. Lalani; C. Christopher Lau; Jozef Lazar; Brendan H. Lee; Hane Lee; Shawn E. Levy; Richard A. Lewis; Sharyn A. Lincoln; Allen Lipson; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Marta M. Majcherska; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Thomas C. Markello; Ronit Marom; Julian A. Martínez-Agosto; Shruti Marwaha; Thomas May; Allyn McConkie-Rosell; Colleen E. McCormack; Alexa T. McCray; Matthew Might; Paolo M. Moretti; Marie Morimoto; John J. Mulvihill; Jennifer L. Murphy; Donna M. Muzny; Michele E. Nehrebecky; Stan F. Nelson; J. Scott Newberry; John H. Newman; Sarah K. Nicholas; Donna Novacic; Jordan S. Orange; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Loren D.M. Pena; John A. Phillips; Jennifer E. Posey; John H. Postlethwait; Lorraine Potocki; Barbara N. Pusey; Chloe M. Reuter; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Jacinda B. Sampson; Susan L. Samson; Kelly Schoch; Molly C. Schroeder; Daryl A. Scott; Prashant Sharma; Vandana Shashi; Edwin K. Silverman; Janet S. Sinsheimer; Kevin S. Smith; Rebecca C. Spillmann; Kimberly Splinter; Joan M. Stoler; Nicholas Stong; Jennifer A. Sullivan; David A. Sweetser; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Tiina K. Urv; Zaheer M. Valivullah; Eric Vilain; Tiphanie P. Vogel; Colleen E. Wahl; Nicole M. Walley; Chris A. Walsh; Patricia A. Ward; Katrina M. Waters; Monte Westerfield; Anastasia L. Wise; Lynne A. Wolfe; Elizabeth A. Worthey; Shinya Yamamoto; Yaping Yang; Guoyun Yu; Diane B. Zastrow; Allison Zheng; Michael Snyder; Jason D. Merker; Stephen B. Montgomery; Paul G. Fisher; René G. Feichtinger; Johannes A. Mayr; Julie Hall; Ines A. Barbosa; Michael A. Simpson; Charu Deshpande; David M. Koeller; Thomas O. Metz; Andrew A. Morris; Susan Schelley; Tina Cowan; Marisa W. Friederich; Robert McFarland; Johan L.K. Van Hove; Gregory M. Enns; Euan A. Ashley; Michael F. Wangler; Robert W. Taylor; Hugo J. Bellen; Jonathan A. Bernstein; Matthew T. Wheeler
Am J Hum Genet
American Journal of Human Genetics, vol 102, iss 3
American Journal of Human Genetics, vol 102, iss 3
Academic Journal
Timothy Gall; Elise Valkanas; Christofer Bello; Thomas Markello; Christopher Adams; William P. Bone; Alexander J. Brandt; Jennifer M. Brazill; Lynn Carmichael; Mariska Davids; Joie Davis; Zoraida Diaz-Perez; David Draper; Jeremy Elson; Elise D. Flynn; Rena Godfrey; Catherine Groden; Cheng-Kang Hsieh; Roxanne Fischer; Gretchen A. Golas; Jessica Guzman; Yan Huang; Megan S. Kane; Elizabeth Lee; Chong Li; Amanda E. Links; Valerie Maduro; May Christine V. Malicdan; Fayeza S. Malik; Michele Nehrebecky; Joun Park; Paul Pemberton; Katherine Schaffer; Dimitre Simeonov; Murat Sincan; Damian Smedley; Zaheer Valivullah; Colleen Wahl; Nicole Washington; Lynne A. Wolfe; Karen Xu; Yi Zhu; William A. Gahl; Cynthia J. Tifft; Camillo Toro; David R. Adams; Miao He; Peter N. Robinson; Melissa A. Haendel; R. Grace Zhai; Cornelius F. Boerkoel
Frontiers in Medicine, Vol 4 (2017)
Academic Journal
Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Perez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y.; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E.; Yang, Edward; Waugh, Jeff L.; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gre-Gory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fairbrother, Laura; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Francis; Holm, Ingrid A.; Horn, Jason; Howerton, Ellen M.; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Konick, Susan; Koziura, Mary; Krasnewich, Donna M.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majch-erska, Marta M.; Malicdan, May Christine; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Mar-waha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa F.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Orengo, James P.; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D.M.; Phillips, John A.; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Tan, Queenie K-G.; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison
Epilepsia
Volume 60
Issue 3
Epilepsia, vol 60, iss 3
Volume 60
Issue 3
Epilepsia, vol 60, iss 3
Academic Journal
Jennifer E. Kyle; Kelly G. Stratton; Erika M. Zink; Young-Mo Kim; Kent J. Bloodsworth; Matthew E. Monroe; Carlos A. Bacino; Neil A. Hanchard; Richard A. Lewis; Jill A. Rosenfeld; Daryl A. Scott; Alyssa A. Tran; Patricia A. Ward; Lindsay C. Burrage; Gary D. Clark; Mercedes E. Alejandro; Jennifer E. Posey; Michael F. Wangler; Brendan H. Lee; William J. Craigen; Hugo J. Bellen; Sarah K. Nicholas; Bret L. Bostwick; Susan L. Samson; Alica M. Goldman; Paolo M. Moretti; Christine M. Eng; Donna M. Muzny; James P. Orengo; Tiphanie P. Vogel; Seema R. Lalani; David R. Murdock; Mahshid S. Azamian; Jordan S. Orange; Lisa T. Emrick; Shweta U. Dhar; Ashok Balasubramanyam; Lorraine Potocki; Shinya Yamamoto; Yaping Yang; Shan Chen; Fariha Jamal; Lefkothea Karaviti; Ronit Marom; Sharyn A. Lincoln; Chris A. Walsh; Alan H. Beggs; Lance H. Rodan; Joan M. Stoler; Gerard T. Berry; Laurel A. Cobban; Calum A. MacRae; Joel B. Krier; Edwin K. Silverman; Elizabeth L. Fieg; Richard L. Maas; Joseph Loscalzo; Aaron Aday; Susan Korrick; David B. Goldstein; Nicholas Stong; Jennifer A. Sullivan; Rebecca C. Spillmann; Loren D. M. Pena; Queenie K.-G. Tan; Nicole M. Walley; Yong-hui Jiang; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Heidi Cope; Ingrid A. Holm; Isaac S. Kohane; Alexa T. McCray; Cecilia Esteves; Kimberly LeBlanc; Matthew Might; Emily Kelley; Elizabeth A. Worthey; Daniel C. Dorset; Braden E. Boone; Shawn E. Levy; Camille L. Birch; Angela L. Jones; Donna M. Brown; David P. Bick; J. Scott Newberry; Jozef Lazar; Thomas May; David A. Sweetser; Lauren C. Briere; J. Carl Pallais; Cynthia M. Cooper; Frances High; Melissa Walker; Heather A. Colley; Laura A. Mamounas; Teri A. Manolio; Elizabeth A. Burke; Rena A. Godfrey; Catherine A. Groden; William A. Gahl; Lynne A. Wolfe; Thomas C. Markello; C. Christopher Lau; David D. Draper; Sarah E. Gould; Michele E. Nehrebecky; Colleen E. Wahl; Gabriel F. Batzli; Ellen F. Macnamara; Jyoti G. Dayal; David J. Eckstein; John J. Mulvihill; Cynthia J. Tifft; Tiina K. Urv; Anastasia L. Wise; Jennifer L. Murphy; Andrea L. Gropman; Ellen M. Howerton; Donna M. Krasnewich; Jean M. Johnston; Barbara N. Pusey; David R. Adams; Valerie V. Maduro; May Christine V. Malicdan; Mariska Davids; Tyra Estwick; Donna Novacic; Prashant Sharma; Camilo Toro; Guoyun Yu; Babak Behnam; Precilla D’Souza; Carlos Ferreira; Marie Morimoto; Eva H. Baker; John Yang; Jean-Philippe F. Gourdine; Matthew Brush; Melissa Haendel; Euan A. Ashley; Jonathan A. Bernstein; Jacinda B. Sampson; Diane B. Zastrow; Noah D. Friedman; Jason D. Merker; Colleen E. McCormack; Paul G. Fisher; Jean M. Davidson; Annika M. Dries; Gregory M. Enns; Marta M. Majcherska; Chloe M. Reuter; Daryl M. Waggott; Jennefer N. Kohler; Terra R. Coakley; Kevin S. Smith; Matthew T. Wheeler; Devon Bonner; Liliana Fernandez; Jason Hom; Yong Huang; Shruti Marwaha; Chunli Zhao; Julian A. Martínez-Agosto; Esteban C. Dell’Angelica; Jeanette C. Papp; Emilie D. Douine; Stan F. Nelson; Martin G. Martin; Christina GS. Palmer; Neil H. Parker; Manish J. Butte; Amanda J. Yoon; Sandra K. Loo; Brent L. Fogel; Katrina M. Dipple; Janet S. Sinsheimer; Patrick Allard; Hayk Barseghyan; Naghmeh Dorrani; Hane Lee; Eric Vilain; Ascia Eskin; Genecee Renteria; Rebecca Signer; Jijun Wan; Allison Zheng; Monte Westerfield; John A. Phillips; Joy D. Cogan; John H. Newman; Amy K. Robertson; Rizwan Hamid; Anna Bican; Elly Brokamp; Laura Duncan; Mary Kozuira; Lynette Rives; Lisa Shakachite; Katrina M. Waters; Bobbie-Jo M. Webb-Robertson; David M. Koeller; Thomas O. Metz
Sci Data
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Scientific data, vol 8, iss 1
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Scientific data, vol 8, iss 1
Academic Journal
Hardee, Isabel; Soldatos, Ariane; Davids, Mariska; Vilboux, Thierry; Toro, Camilo; David, Karen L.; Ferreira, Carlos R.; Nehrebecky, Michele; Snow, Joseph; Thurm, Audrey; Heller, Theo; Macnamara, Ellen F.; Gunay‐Aygun, Meral; Zein, Wadih M.; Gahl, William A.; Malicdan, May Christine V.
American Journal of Medical Genetics Part A. Dec 01, 2017 173(12):3231-3237
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