학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Grajewski, Alana; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Niggl, Eva ; Bouman, Arjan ; Hoogenboezem, Remco M. ; Wallaard, Ilse ; Park, Joohyun ; Admard, Jakob ; Wilke, Martina ; Harris-Mostert, Emilio D.R.O. ; Elgersma, Minetta ; Bain, Jennifer ; Balasubramanian, Meena ; Banka, Siddharth ; Benke, Paul J. ; Bertrand, Miriam ; Blesson, Alyssa E. ; Clayton-Smith, Jill ; Ellingford, Jamie M. ; Gillentine, Madelyn A. ; Goodloe, Dana H. ; Haack, Tobias B. ; Jain, Mahim ; Krantz, Ian ; Luu, Sharon M. ; McPheron, Molly ; Muss, Candace L. ; Raible, Sarah E. ; Robin, Nathaniel H. ; Spiller, Michael ; Starling, Susan ; Thiffault, Isabelle ; Vetrini, Francesco ; Witt, Dennis ; Woods, Emily ; Zhou, Dihong ; Elgersma, Ype ; van Esbroeck, Annelot C.M.
In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
Academic Journal
Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna ; Spillmann, Rebecca ; Cope, Heidi ; McConkie-Rosell, Allyn ; Walley, Nicole ; Fernandez, Liliana ; Kohler, Jennefer N. ; Bonner, Devon ; Reuter, Chloe ; Stong, Nicholas ; Mulvihill, John J. ; Novacic, Donna ; Wolfe, Lynne ; Abdelbaki, Ayat ; Toro, Camilo ; Tifft, Cyndi ; Malicdan, May ; Gahl, William ; Liu, Pengfei ; Newman, John ; Goldstein, David B. ; Hom, Jason ; Sampson, Jacinda ; Wheeler, Matthew T. ; Alejandro, Mercedes E. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Balasubramanyam, Ashok ; Burrage, Lindsay C. ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Craigen, William J. ; Dai, Hongzheng ; 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. ; Orengo, James P. ; Posey, Jennifer E. ; Potocki, Lorraine ; Rosenfeld, Jill A. ; Samson, Susan L. ; Scott, Daryl A. ; Tran, Alyssa A. ; Vogel, Tiphanie P. ; Wangler, Michael F. ; Yamamoto, Shinya ; Eng, Christine M. ; Ward, Patricia A. ; Behrens, Edward ; Deardorff, Matthew ; Falk, Marni ; Hassey, Kelly ; Sullivan, Kathleen ; Vanderver, Adeline ; Shashi, Vandana ; Smith, Edward C. ; Spillmann, Rebecca C. ; Sullivan, Jennifer A. ; Tan, Queenie K.-G. ; Walley, Nicole M. ; Agrawal, Pankaj B. ; Beggs, Alan H. ; Berry, Gerard T. ; Briere, Lauren C. ; Cobban, Laurel A. ; Coggins, Matthew ; Cooper, Cynthia M. ; Fieg, Elizabeth L. ; High, Frances ; Holm, Ingrid A. ; Korrick, Susan ; Krier, Joel B. ; Lincoln, Sharyn A. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Pallais, J.Carl ; Rao, Deepak A. ; Rodan, Lance H. ; Silverman, Edwin K. ; Stoler, Joan M. ; Sweetser, David A. ; Walker, Melissa ; Walsh, Chris A. ; Kelley, Emily G. ; Kohane, Isaac S. ; LeBlanc, Kimberly ; McCray, Alexa T. ; Nagy, Anna ; Dasari, Surendra ; Lanpher, Brendan C. ; Lanza, Ian R. ; Morava, Eva ; Oglesbee, Devin ; Bademci, Guney ; Barbouth, Deborah ; Bivona, Stephanie ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Forghani, Irman ; Grajewski, Alana ; Isasi, Rosario ; Lam, Byron ; Levitt, Roy ; Liu, Xue Zhong ; McCauley, Jacob ; Sacco, Ralph ; Saporta, Mario ; Schaechter, Judy ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Zuchner, Stephan ; Colley, Heather A. ; Dayal, Jyoti G. ; Eckstein, David J. ; Findley, Laurie C. ; Krasnewich, Donna M. ; Mamounas, Laura A. ; Manolio, Teri A. ; LaMoure, Grace L. ; Goldrich, Madison P. ; Urv, Tiina K. ; Doss, Argenia L. ; Acosta, Maria T. ; Bonnenmann, Carsten ; D’Souza, Precilla ; Draper, David D. ; Ferreira, Carlos ; Godfrey, Rena A. ; Groden, Catherine A. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Markello, Thomas C. ; Nath, Avi ; Pusey, Barbara N. ; Wahl, Colleen E. ; Baker, Eva ; Burke, Elizabeth A. ; Adams, David R. ; Gahl, William A. ; Malicdan, May Christine V. ; Tifft, Cynthia J. ; Wolfe, Lynne A. ; Yang, John ; Power, Bradley ; Gochuico, Bernadette ; Huryn, Laryssa ; Latham, Lea ; Davis, Joie ; Mosbrook-Davis, Deborah ; Rossignol, Francis ; Solomon, Ben ; MacDowall, John ; Thurm, Audrey ; Zein, Wadih ; Yousef, Muhammad ; Adam, Margaret ; Amendola, Laura ; Bamshad, Michael ; Beck, Anita ; Bennett, Jimmy ; Berg-Rood, Beverly ; Blue, Elizabeth ; Boyd, Brenna ; Byers, Peter ; Chanprasert, Sirisak ; Cunningham, Michael ; Dipple, Katrina ; Doherty, Daniel ; Earl, Dawn ; Glass, Ian ; Golden-Grant, Katie ; Hahn, Sihoun ; Hing, Anne ; Hisama, Fuki M. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Lam, Christina ; Maravilla, Kenneth ; Mefford, Heather ; Merritt, J.Lawrence ; Mirzaa, Ghayda ; Nickerson, Deborah ; Raskind, Wendy ; Rosenwasser, Natalie ; Scott, C.Ron ; Sun, Angela ; Sybert, Virginia ; Wallace, Stephanie ; Wener, Mark ; Wenger, Tara ; Ashley, Euan A. ; Bejerano, Gill ; Bernstein, Jonathan A. ; Coakley, Terra R. ; Fisher, Paul G. ; Fresard, Laure ; Huang, Yong ; Kravets, Elijah ; Majcherska, Marta M. ; Martin, Beth A. ; Marwaha, Shruti ; McCormack, Colleen E. ; Raja, Archana N. ; Reuter, Chloe M. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Smith, Kevin S. ; Sutton, Shirley ; Tabor, Holly K. ; Tucker, Brianna M. ; Zastrow, Diane B. ; Zhao, Chunli ; Byrd, William E. ; Crouse, Andrew B. ; Might, Matthew ; Nakano-Okuno, Mariko ; Whitlock, Jordan ; Brown, Gabrielle ; Butte, Manish J. ; Dell’Angelica, Esteban C. ; Dorrani, Naghmeh ; Douine, Emilie D. ; Fogel, Brent L. ; Gutierrez, Irma ; Huang, Alden ; Krakow, Deborah ; Lee, Hane ; Loo, Sandra K. ; Mak, Bryan C. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; McGee, Elisabeth ; Nelson, Stanley F. ; Nieves-Rodriguez, Shirley ; Palmer, Christina G.S. ; Papp, Jeanette C. ; Parker, Neil H. ; Renteria, Genecee ; Signer, Rebecca H. ; Sinsheimer, Janet S. ; Wan, Jijun ; Wang, Lee-kai ; Perry, Katherine Wesseling ; Woods, Jeremy D. ; Alvey, Justin ; Andrews, Ashley ; Bale, Jim ; Bohnsack, John ; Botto, Lorenzo ; Carey, John ; Pace, Laura ; Longo, Nicola ; Marth, Gabor ; Moretti, Paolo ; Quinlan, Aaron ; Velinder, Matt ; Viskochil, Dave ; Bayrak-Toydemir, Pinar ; Mao, Rong ; Westerfield, Monte ; Brokamp, Elly ; Duncan, Laura ; Hamid, Rizwan ; Kennedy, Jennifer ; Kozuira, Mary ; Newman, John H. ; Phillips, John A., III ; Rives, Lynette ; Robertson, Amy K. ; Solem, Emily ; Cogan, Joy D. ; Cole, F. Sessions ; Hayes, Nichole ; Kiley, Dana ; Sisco, Kathy ; Wambach, Jennifer ; Wegner, Daniel ; Baldridge, Dustin ; Pak, Stephen ; Schedl, Timothy ; Shin, Jimann ; Solnica-Krezel, Lilianna ; Cogan, Joy
In Genetics in Medicine February 2021 23(2):259-271
Academic Journal
Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y. ; Silva, Ana P.G. ; Lee, Hane ; Douine, Emilie D. ; Otero, Maria G. ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P. ; Delgado, Mauricio R. ; Hajianpour, M.J. ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W. ; Vergano, Samantha A. ; Mahida, Sonal ; Naidu, Sakkubai ; Sousa, Ana Berta ; Wain, Karen E. ; Challman, Thomas D. ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J. ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D.M. ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A. ; Hurst, Jane ; Fitzpatrick, David R. ; Morton, Jenny E.V. ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I. ; Marsh, Eric D. ; Nelson, Stanley F. ; Martinez, Julian A. ; Graham, John M., Jr ; Kini, Usha ; Mackay, Joel P. ; Pierson, Tyler Mark
In Genetics in Medicine May 2020 22(5):878-888
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
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda; Foss, Kimberly; Dobyns, William; White, Susan; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten; Van Der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha; Ruiz, Anna; Trujillo Quintero, Juan; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy; Weisenberg, Judith; Haack, Tobias; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels De Heus, Karen; De Wit, Marie-Claire; Barakat, Tahsin; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia; The Undiagnosed Diseases Network, Study; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle
American Journal of Human Genetics. 112(3):554-571
Academic Journal
Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John; Koziura, Mary; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana; Walsh, Matthew; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah; Fitzgerald, Mark; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico; Acosta, Maria; Adams, David; Alvarez, Raquel; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan; Afzali, Ben; Bacino, Carlos; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan; Behrens, Edward; Bejerano, Gill; Bellen, Hugo; Bennett, Jimmy; Bernstein, Jonathan; Berry, Gerard; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren; Brown, Gabrielle; Burke, Elizabeth; Burrage, Lindsay; Butte, Manish; Byers, Peter; Byrd, William; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta; Chanprasert, Sirisak; Chao, Hsiaotuan; Chinn, Ivan; Clark, Gary; Coakley, Terra; Cobban, Laurel; Cogan, Joy; Coggins, Matthew; Cole, F; Colley, Heather; Cope, Heidi; Corona, Rosario; Craigen, William; Crouse, Andrew; Cunningham, Michael; D’souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti; Delgado, Margaret; Dell'Angelica, Esteban; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia; Douine, Emilie; Earl, Dawn; Eckstein, David; Emrick, Lisa; Eng, Christine; Falk, Marni; Fieg, Elizabeth; Fisher, Paul; Fogel, Brent; Forghani, Irman; Fu, Jiayu; Gahl, William; Glass, Ian; Goddard, Page; Godfrey, Rena; Grajewski, Alana; Gropman, Andrea; Halley, Meghan; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki; Holm, Ingrid; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa; Kohane, Isaac; Kohler, Jennefer; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna; Kravets, Elijah; Lalani, Seema; Lam, Byron; Lam, Christina; Lanpher, Brendan; Lanza, Ian; Leblanc, Kimberly; Lee, Brendan; Levitt, Roy; Lewis, Richard; Liu, Pengfei; Liu, Xue; Longo, Nicola; Loo, Sandra; Loscalzo, Joseph; Maas, Richard; Macnamara, Ellen; Macrae, Calum; Maduro, Valerie; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May; Mamounas, Laura; Manolio, Teri; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth; Martin, Martin; Martínez-Agosto, Julian; Marwaha, Shruti; Mccauley, Jacob; Mcconkie-Rosell, Allyn; Mccray, Alexa; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James; Pace, Laura; Pak, Stephen; Pallais, J; Papp, Jeanette; Parker, Neil; Petcharet, Leoyklang; Posey, Jennifer; Potocki, Lorraine; Swerdzewski, Barbara; Quinlan, Aaron; Rao, Deepak; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy; Rodan, Lance; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David; Sybert, Virginia; Tabor, Holly; Tan, Null; Tan, Amelia; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa; Ungar, Rachel; Urv, Tiina; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie; Wahl, Colleen; Walker, Melissa; Walley, Nicole; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael; Ward, Patricia; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew; Whitlock, Jordan; Wolfe, Lynne; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan
Am J Hum Genet
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Spillmann, Rebecca; Polentarutti, Susanne; Ehrler, Melanie; Kretschmar, Oliver; Wehrle, Flavia M.; Latal, Beatrice
Pediatric Research; Oct2023, Vol. 94 Issue 4, p1523-1529, 7p
Academic Journal
Findley, Laurie ; Mulvihill, John J. ; Bentley, Abbey ; Bernstein, Jonathan A. ; Bican, Anna ; Botto, Lorenzo ; Briere, Lauren ; Butte, Manish J. ; Cope, Heidi ; Fogel, Brent L. ; Hom, Jason ; Kravets, Elijah ; Mak, Bryan C. ; Martin, Martin G. ; Martinez-Agosto, Julian A. ; Nelson, Stanley F. ; Newman, John ; Palmer, Christina G.S. ; Parker, Neil H. ; Rosenfeld, Jill A. ; Ruzhnikov, Maura ; Schoch, Kelly ; Spillmann, Rebecca
In Molecular Genetics and Metabolism November 2021 134(3):281-281
Academic Journal
Willim, Jana; Woike, Daniel; Greene, Daniel; Das, Sarada; Pfeifer, Kevin; Yuan, Weimin; Lindsey, Anika; Itani, Omar; Böhme, Amber L.; Tibbe, Debora; Hönck, Hans-Hinrich; Hassani Nia, Fatemeh; Zech, Michael; Brunet, Theresa; Faivre, Laurence; Sorlin, Arthur; Vitobello, Antonio; Smol, Thomas; Colson, Cindy; Baranano, Kristin; Schatz, Krista; Bayat, Allan; Schoch, Kelly; Spillmann, Rebecca; Davis, Erica E.; Conboy, Erin; Vetrini, Francesco; Platzer, Konrad; Neuser, Sonja; Gburek-Augustat, Janina; Grace, Alexandra Noel; Mitchell, Bailey; Stegmann, Alexander; Sinnema, Margje; Meeks, Naomi; Saunders, Carol; Cadieux-Dion, Maxime; Hoyer, Juliane; Van-Gils, Julien; de Sainte-Agathe, Jean-Madeleine; Thompson, Michelle L.; Bebin, E. Martina; Weisz-Hubshman, Monika; Tabet, Anne-Claude; Verloes, Alain; Levy, Jonathan; Latypova, Xenia; Harder, Sönke; Silverman, Gary A.; Pak, Stephen C.; Schedl, Tim; Freson, Kathleen; Mumford, Andrew; Turro, Ernest; Schlein, Christian; Shashi, Vandana; Kreienkamp, Hans-Jürgen
Nature Communications. 15(1)
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Willim, Jana; Woike, Daniel; Greene, Daniel; Das, Sarada; Pfeifer, Kevin; Yuan, Weimin; Lindsey, Anika; Itani, Omar; Boehme, Amber L.; Tibbe, Debora; Hoenck, Hans-Hinrich; Nia, Fatemeh Hassani; Weisz-Hubshman, Monika; Pak, Stephen C.; Zech, Michael; Brunet, Theresa; Faivre, Laurence; Sorlin, Arthur; Vitobello, Antonio; Smol, Thomas; Colson, Cindy; Baranano, Kristin; Schatz, Krista; Bayat, Allan; Schoch, Kelly; Spillmann, Rebecca; Davis, Erica E.; Conboy, Erin; Vetrini, Francesco; Platzer, Konrad; Neuser, Sonja; Gburek-Augustat, Janina; Grace, Alexandra Noel; Mitchell, Bailey; Stegmann, Alexander; Sinnema, Margje; Meeks, Naomi; Saunders, Carol; Cadieux-Dion, Maxime; Hoyer, Juliane; Van-Gils, Julien; de Sainte-Agathe, Jean-Madeleine; Thompson, Michelle L.; Bebin, E. Martina; Tabet, Anne-Claude; Verloes, Alain; Levy, Jonathan; Latypova, Xenia; Harder, Soenke; Silverman, Gary A.; Schedl, Tim; Freson, Kathleen; Mumford, Andrew; Turro, Ernest; Schlein, Christian; Shashi, Vandana; Kreienkamp, Hans-Juergen; Undiagnosed Dis Network
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Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y. ; Silva, Ana P.G. ; Lee, Hane ; Douine, Emilie D. ; Otero, Maria G. ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P. ; Delgado, Mauricio R. ; Hajianpour, M.J. ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W. ; Vergano, Samantha A. ; Mahida, Sonal ; Naidu, Sakkubai ; Sousa, Ana Berta ; Wain, Karen E. ; Challman, Thomas D. ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J. ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D.M. ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A. ; Hurst, Jane ; Fitzpatrick, David R. ; Morton, Jenny E.V. ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I. ; Marsh, Eric D. ; Nelson, Stanley F. ; Martinez, Julian A. ; Graham, John M., Jr ; Kini, Usha ; Mackay, Joel P. ; Pierson, Tyler Mark
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McConkie-Rosell, Allyn C.; Spillmann, Rebecca; Schoch, Kelly A.; Sullivan, Jennifer; Walley, Nicole; McDonald, Marie R.; Hooper, Stephen; Shashi, Vandana
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Reuter, Chloe M.; Kohler, Jennefer N.; Bonner, Devon; Zastrow, Diane; Fernandez, Liliana; Dries, Annika; Marwaha, Shruti; Davidson, Jean; Brokamp, Elly; Herzog, Matthew; Hong, Joyce; Macnamara, Ellen; Rosenfeld, Jill A.; Schoch, Kelly; Spillmann, Rebecca; Loscalzo, Joseph; Krier, Joel; Stoler, Joan; Sweetser, David; Palmer, Christina G.S.
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Academic Journal
Rosell, Allyn; Pena, Loren; Schoch, Kelly; Spillmann, Rebecca; Sullivan, Jennifer; Hooper, Stephen; Jiang, Yong-Hui; Mathey-Andrews, Nicolas; Goldstein, David; Shashi, Vandana
Journal of Genetic Counseling; Oct2016, Vol. 25 Issue 5, p1019-1031, 13p
Academic Journal
Mikati, Mohamad A; Jiang, Yong‐hui; Carboni, Michael; Shashi, Vandana; Petrovski, Slave; Spillmann, Rebecca; Milligan, Carol J.; Li, Melody; Grefe, Annette; McConkie, Allyn; Berkovic, Samuel; Scheffer, Ingrid; Mullen, Saul; Bonner, Melanie; Petrou, Steven; Goldstein, David
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