학술논문
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'학술논문'
에서 검색결과 153건 | 목록
1~20
Academic Journal
Mackley, Michael P. ; Richer, Julie ; Guerin, Andrea ; Caluseriu, Oana ; Armstrong, Linlea ; Blood, Katherine A. ; Bernier, Francois ; Boswell-Patterson, Christie ; Chard, Marisa ; Costain, Gregory ; Dyment, David ; Eaton, Alison ; Faghfoury, Hanna ; Frosk, Patrick ; Gillespie, Meredith K. ; Goh, Elaine S. ; Hayeems, Robin Z. ; Hashemi, Bita ; Innes, A. Micheil ; Jackson, Molly ; Laberge, Anne-Marie ; Limoges, Jacqueline ; Marshall, Christian ; McMillan, Hugh ; Nelson, Tanya N. ; Osmond, Matthew ; Parboosingh, Jillian ; Penney, Lynette ; Prince, Bradley ; Sawyer, Sarah L. ; Siu, Victoria Mok ; Thomas, Mary Ann ; Turner, Lesley ; Villeneuve-Cloutier, Noémie ; Hartley, Taila ; Boycott, Kym M.
In Genetics in Medicine August 2025 27(8)
Academic Journal
Bombard, Yvonne; Hayeems, Robin Z.; Aronson, Melyssa; Bernier, Francois; Brudno, Michael; Carroll, June C.; Chad, Lauren; Clausen, Marc; Cohn, Ronald; Costain, Gregory; Dhalla, Irfan; Faghfoury, Hanna; Friedman, Jan; Hewson, Stacy; Jamieson, Trevor; Jobling, Rebekah; Kodida, Rita; Laberge, Anne-Marie; Lerner-Ellis, Jordan; Liston, Eriskay; Luca, Stephanie; Mamdani, Muhammad; Marshall, Christian R.; Osmond, Matthew; Pham, Quynh; Reble, Emma; Rudzicz, Frank; Seto, Emily; Shastri-Estrada, Serena; Shuman, Cheryl; Silver, Josh; Smith, Maureen; Thorpe, Kevin; Ungar, Wendy J.; Lee, Whiwon ; Hirjikaka, Daena ; Grewal, Sonya ; Shaw, Angela
In Genetics in Medicine June 2024 26(6)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; 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.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; 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 Peter; 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.; 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; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; 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, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; 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; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; 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; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling ; Chan, Hiuling ; Pfliger, Jessica M. ; Lerma, Vanesa C. ; Tran, Alyssa ; Longley, Megan A. ; Weisz-Hubshman, Monika ; Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Massingham, Lauren ; Zech, Michael ; Wagner, Matias ; Engels, Hartmut ; Cremer, Kirsten ; Mangold, Elisabeth ; Peters, Sophia ; Trautmann, Jessica ; Perne, Claudia ; Mester, Jessica L. ; Guillen Sacoto, Maria J. ; Person, Richard ; McDonnell, Pamela P. ; Cohen, Stacey R. ; Lusk, Laina ; Cohen, Ana S.A. ; Le Pichon, Jean-Baptiste ; Pastinen, Tomi ; Zhou, Dihong ; Engleman, Kendra ; Racine, Caroline ; Faivre, Laurence ; Moutton, Sébastien ; Denommé-Pichon, Anne-Sophie ; Koh, Hyun Yong ; Poduri, Annapurna ; Bolton, Jeffrey ; Knopp, Cordula ; Julia Suh, Dong Sun ; Maier, Andrea ; Toosi, Mehran Beiraghi ; Karimiani, Ehsan Ghayoor ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Ramakumaran, Vijayalakshmi ; Vasudevan, Pradeep ; Banos-Pinero, Benito ; Pagnamenta, Alistair T. ; Prasad, Chitra ; Osmond, Matthew ; Schuhmann, Sarah ; Vasileiou, Georgia ; Russ-Hall, Sophie ; Scheffer, Ingrid E. ; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Hiatt, Susan M. ; Trajkova, Slavica ; Sebastiano, Matteo Rossi ; Partridge, E. Christopher ; Abidi, Fatima E. ; Anderson, Ashlyn ; Ansar, Muhammad ; Antonarakis, Stylianos E. ; Azadi, Azadeh ; Bachmann-Gagescu, Ruxandra ; Bartuli, Andrea ; Benech, Caroline ; Berkowitz, Jennifer L. ; Betti, Michael J. ; Brusco, Alfredo ; Cannon, Ashley ; Caron, Giulia ; Chen, Yanmin ; Cochran, Meagan E. ; Coleman, Tanner F. ; Crenshaw, Molly M. ; Cuisset, Laurence ; Curry, Cynthia J. ; Darvish, Hossein ; Demirdas, Serwet ; Descartes, Maria ; Douglas, Jessica ; Dyment, David A. ; Elloumi, Houda Zghal ; Ermondi, Giuseppe ; Faoucher, Marie ; Farrow, Emily G. ; Felker, Stephanie A. ; Fisher, Heather ; Hurst, Anna C.E. ; Joset, Pascal ; Kelly, Melissa A. ; Kmoch, Stanislav ; Leadem, Benjamin R. ; Lyons, Michael J. ; Macchiaiolo, Marina ; Magner, Martin ; Mandrile, Giorgia ; Mattioli, Francesca ; McEown, Megan ; Meadows, Sarah K. ; Medne, Livija ; Meeks, Naomi J.L. ; Montgomery, Sarah ; Napier, Melanie P. ; Natowicz, Marvin ; Newberry, Kimberly M. ; Niceta, Marcello ; Noskova, Lenka ; Nowak, Catherine B. ; Noyes, Amanda G. ; Osmond, Matthew ; Prijoles, Eloise J. ; Pugh, Jada ; Pullano, Verdiana ; Quélin, Chloé ; Rahimi-Aliabadi, Simin ; Rauch, Anita ; Redon, Sylvia ; Reymond, Alexandre ; Schwager, Caitlin R. ; Sellars, Elizabeth A. ; Scheuerle, Angela E. ; Shukarova-Angelovska, Elena ; Skraban, Cara ; Stolerman, Elliot ; Sullivan, Bonnie R. ; Tartaglia, Marco ; Thiffault, Isabelle ; Uguen, Kevin ; Umaña, Luis A. ; van Bever, Yolande ; van der Crabben, Saskia N. ; van Slegtenhorst, Marjon A. ; Waisfisz, Quinten ; Washington, Camerun ; Rodan, Lance H. ; Myers, Richard M. ; Cooper, Gregory M.
In The American Journal of Human Genetics 2 February 2023 110(2):215-227
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Osmond, Matthew ; Hartley, Taila ; Dyment, David A. ; Kernohan, Kristin D. ; Buske, Orion J. ; Innes, A. Micheil ; Boycott, Kym M.
In Genetics in Medicine January 2022 24(1):100-108
Academic Journal
Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U. ; Lopez, F.J. ; Maleady-Crowe, F. ; 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. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan
In Genetics in Medicine November 2021 23(11):2138-2149
Academic Journal
Ravenscroft, Thomas A. ; Phillips, Jennifer B. ; Fieg, Elizabeth ; Bajikar, Sameer S. ; Peirce, Judy ; Wegner, Jeremy ; Luna, Alia A. ; Fox, Eric J. ; Yan, Yi-Lin ; Rosenfeld, Jill A. ; Zirin, Jonathan ; Kanca, Oguz ; Acosta, Maria T. ; Adam, Margaret ; Adams, David R. ; Agrawal, Pankaj B. ; Alejandro, Mercedes E. ; Alvey, Justin ; Amendola, Laura ; Andrews, Ashley ; Ashley, Euan A. ; Azamian, Mahshid S. ; Bacino, Carlos A. ; Bademci, Guney ; Baker, Eva ; Balasubramanya, Ashok ; Baldridge, Dustin ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Bayrak-Toydemir, Pinar ; Beck, Anita ; Beggs, Alan H. ; Behrens, Edward ; Bejerano, Gill ; Bennet, Jimmy ; Berg-Rood, Beverly ; Bernstein, Jonathan A. ; Berry, Gerard T. ; Bican, Anna ; Bivona, Stephanie ; Blue, Elizabeth ; Bohnsack, John ; Bonnenmann, Carsten ; Bonner, Devon ; Botto, Lorenzo ; Boyd, Brenna ; Briere, Lauren C. ; Brokamp, Elly ; Brown, Gabrielle ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Butte, Manish J. ; Byers, Peter ; Byrd, William E. ; Carey, John ; Carrasquillo, Olveen ; Chang, Ta Chen Peter ; Chanprasert, Sirisak ; Chao, Hsiao-Tuan ; Clark, Gary D. ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Cole, F. Sessions ; Colley, Heather A. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Crouse, Andrew B. ; Cunningham, Michael ; D’Souza, Precilla ; Dai, Hongzheng ; Dasari, Surendra ; Davis, Joie ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dell’Angelica, Esteban C. ; Dhar, Shweta U. ; Dipple, Katrina ; Doherty, Daniel ; Dorrani, Naghmeh ; Doss, Argenia L. ; Douine, Emilie D. ; Draper, David D. ; Duncan, Laura ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Falk, Marni ; Fernandez, Liliana ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fisher, Paul G. ; Fogel, Brent L. ; Forghani, Irman ; Fresard, Laure ; Gahl, William A. ; Glass, Ian ; Gochuico, Bernadette ; Godfrey, Rena A. ; Golden-Grant, Katie ; Goldman, Alica M. ; Goldrich, Madison P. ; Goldstein, David B. ; Grajewski, Alana ; Groden, Catherine A. ; Gutierrez, Irma ; Hahn, Sihoun ; Hamid, Rizwan ; Hanchard, Neil A. ; Hassey, Kelly ; Hayes, Nichole ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Hom, Jason ; Horike-Pyne, Martha ; Huang, Alden ; Huang, Yong ; Huryn, Laryssa ; Isasi, Rosario ; Jamal, Fariha ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Karaviti, Lefkothea ; Kennedy, Jennifer ; Kiley, Dana ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Krasnewich, Donna M. ; Kravets, Elijah ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lalani, Seema R. ; Lam, Byron ; Lam, Christina ; LaMoure, Grace L. ; Lanpher, Brendan C. ; Lanza, Ian R. ; Latham, Lea ; LeBlanc, Kimberly ; Lee, Brendan H. ; Lee, Hane ; Levitt, Roy ; Lewis, Richard A. ; Lincoln, Sharyn A. ; Liu, Pengfei ; Liu, Xue Zhong ; Longo, Nicola ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacDowall, John ; Macnamara, Ellen F. ; MacRae, Calum A. ; Maduro, Valerie V. ; Majcherska, Marta M. ; Mak, Bryan C. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Manolio, Teri A. ; Mao, Rong ; Maravilla, Kenneth ; Markello, Thomas C. ; Marom, Ronit ; Marth, Gabor ; Martin, Beth A. ; Martin, Martin G. ; Martínez-Agosto, Julian A. ; Marwaha, Shruti ; McCauley, Jacob ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; McCray, Alexa T. ; McGee, Elisabeth ; Mefford, Heather ; Merritt, J. Lawrence ; Might, Matthew ; Mirzaa, Ghayda ; Morava, Eva ; Moretti, Paolo ; Moretti, Paolo M. ; Mosbrook-Davis, Deborah ; Mulvihill, John J. ; Murdock, David R. ; Nagy, Anna ; Nakano-Okuno, Mariko ; Nath, Avi ; Nelson, Stan F. ; Newman, John H. ; Nicholas, Sarah K. ; Nickerson, Deborah ; Nieves-Rodriguez, Shirley ; Novacic, Donna ; Oglesbee, Devin ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina GS. ; Papp, Jeanette C. ; Parker, Neil H. ; Phillips, John A., III ; Posey, Jennifer E. ; Potocki, Lorraine ; Power, Bradley ; Pusey, Barbara N. ; Quinlan, Aaron ; Raskind, Wendy ; Raja, Archana N. ; Rao, Deepak A. ; Renteria, Genecee ; Reuter, Chloe M. ; Rives, Lynette ; Robertson, Amy K. ; Rodan, Lance H. ; Rosenwasser, Natalie ; Rossignol, Francis ; Ruzhnikov, Maura ; Sacco, Ralph ; Sampson, Jacinda B. ; Samson, Susan L. ; Saporta, Mario ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Scott, Daryl A. ; Shashi, Vandana ; Shin, Jimann ; Signer, Rebecca ; Silverman, Edwin K. ; Sinsheimer, Janet S. ; Sisco, Kathy ; Smith, Edward C. ; Smith, Kevin S. ; Solem, Emily ; Solnica-Krezel, Lilianna ; Solomon, Ben ; Spillmann, Rebecca C. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sullivan, Kathleen ; Sun, Angela ; Sutton, Shirley ; Sweetser, David A. ; Sybert, Virginia ; Tabor, Holly K. ; Tan, Amelia L.M. ; Tan, Queenie K.-G. ; Tekin, Mustafa ; Telischi, Fred ; Thorson, Willa ; Thurm, Audrey ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Tucker, Brianna M. ; Urv, Tiina K. ; Vanderver, Adeline ; Velinder, Matt ; Viskochil, Dave ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Wallace, Stephanie ; Walley, Nicole M. ; Walsh, Chris A. ; Walker, Melissa ; Wambach, Jennifer ; Wan, Jijun ; Wang, Lee-kai ; Wangler, Michael F. ; Ward, Patricia A. ; Wegner, Daniel ; Wener, Mark ; Wenger, Tara ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Wolfe, Lynne A. ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yang, John ; Yousef, Muhammad ; Zastrow, Diane B. ; Zein, Wadih ; Zhao, Chunli ; Zuchner, Stephan ; Benke, Paul J. ; Cameron, Eric S. ; Strehlow, Vincent ; Platzer, Konrad ; Jamra, Rami Abou ; Klöckner, Chiara ; Osmond, Matthew ; Licata, Thomas ; Rojas, Samantha ; Dyment, David ; Chong, Josephine S.C. ; Lincoln, Sharyn ; Postlethwait, John H. ; Krier, Joel ; Bellen, Hugo J.
In Genetics in Medicine October 2021 23(10):1889-1900
Academic Journal
Schnur, Rhonda E. ; Yousaf, Sairah ; Liu, James ; Chung, Wendy K. ; Rhodes, Lindsay ; Marble, Michael ; Zambrano, Regina M. ; Sobreira, Nara ; Jayakar, Parul ; Pierpont, Mary Ella ; Schultz, Matthew J. ; Pichurin, Pavel N. ; Olson, Rory J. ; Graham, Gail E. ; Osmond, Matthew ; Contreras-García, Gustavo A. ; Campo-Neira, Karina A. ; Peñaloza-Mantilla, Camilo A. ; Flage, Mark ; Kuppa, Srikar ; Navarro, Karina ; Sacoto, Maria J. Guillen ; Wentzensen, Ingrid M. ; Scarano, Maria I. ; Juusola, Jane ; Prada, Carlos E. ; Hufnagel, Robert B.
In Genetics in Medicine September 2021 23(9):1624-1635
Academic Journal
Nguyen, Ngoc Minh Phuong ; Ge, Zhao-Jia ; Reddy, Ramesh ; Fahiminiya, Somayyeh ; Sauthier, Philippe ; Bagga, Rashmi ; Sahin, Feride Iffet ; Mahadevan, Sangeetha ; Osmond, Matthew ; Breguet, Magali ; Rahimi, Kurosh ; Lapensee, Louise ; Hovanes, Karine ; Srinivasan, Radhika ; Van den Veyver, Ignatia B. ; Sahoo, Trilochan ; Ao, Asangla ; Majewski, Jacek ; Taketo, Teruko ; Slim, Rima
In The American Journal of Human Genetics 1 November 2018 103(5):740-751
Academic Journal
Osmond, Matthew; Price, E. Magda; Buske, Orion J.; Frew, Mackenzie; Couse, Madeline; Hartley, Taila; Klamann, Conor; Le, Hannah G. B. H.; Xu, Jenny; So, Delvin; Jain, Anjali; Lu, Kevin; Mo, Kevin; Wyllie, Hannah; Wall, Erika; Driver, Hannah G.; Cheung, Warren A.; Cohen, Ana S. A.; Farrow, Emily G.; Thiffault, Isabelle
Human Mutation; 10/9/2025, Vol. 2025, p1-12, 12p
Academic Journal
Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin ; Pavlovsky, Ethan ; Tilton, Nicholas ; Sekula, Austin ; Gao, Hua ; Alaimo, Joseph T. ; Engleman, Kendra ; Rush, Eric T. ; Blocker, Karli ; Dipple, Katrina M. ; Fettig, Veronica M. ; Hare, Heather ; Glass, Ian ; Grange, Dorothy K. ; Griffin, Michael ; Phornphutkul, Chanika ; Massingham, Lauren ; Mehta, Lakshmi ; Miller, Danny E. ; Thies, Jenny ; Merritt, J Lawrence, II ; Muller, Eric, II ; Osmond, Matthew ; Sawyer, Sarah L. ; Slaugh, Rachel ; Hickey, Rachel E. ; Wolf, Barry ; Choudhary, Sanjeev ; Simonović, Miljan ; Zhang, Yueqing ; Palculict, Timothy Blake ; Telegrafi, Aida ; Carere, Deanna Alexis ; Wentzensen, Ingrid M. ; Morrow, Michelle M. ; Monaghan, Kristin G. ; Juusola, Jane ; Yang, Jun
In The American Journal of Human Genetics 4 April 2024 111(4):778-790
Academic Journal
Huang, Yan ; Lemire, Gabrielle ; Briere, Lauren C. ; Liu, Fang ; Wessels, Marja W. ; Wang, Xueqi ; Osmond, Matthew ; Kanca, Oguz ; Lu, Shenzhao ; High, Frances A. ; Walker, Melissa A. ; Rodan, Lance H. ; Wangler, Michael F. ; Yamamoto, Shinya ; Kernohan, Kristin D. ; Sweetser, David A. ; Boycott, Kym M. ; Bellen, Hugo J.
In The American Journal of Human Genetics 6 October 2022 109(10):1923-1931
Academic Journal
den Hoed, Joery ; de Boer, Elke ; Voisin, Norine ; Dingemans, Alexander J.M. ; Guex, Nicolas ; Wiel, Laurens ; Nellaker, Christoffer ; Amudhavalli, Shivarajan M. ; Banka, Siddharth ; Bena, Frederique S. ; Ben-Zeev, Bruria ; Bonagura, Vincent R. ; Bruel, Ange-Line ; Brunet, Theresa ; Brunner, Han G. ; Chew, Hui B. ; Chrast, Jacqueline ; Cimbalistienė, Loreta ; Coon, Hilary ; Délot, Emmanuèlle C. ; Démurger, Florence ; Denommé-Pichon, Anne-Sophie ; Depienne, Christel ; Donnai, Dian ; Dyment, David A. ; Elpeleg, Orly ; Faivre, Laurence ; Gilissen, Christian ; Granger, Leslie ; Haber, Benjamin ; Hachiya, Yasuo ; Abedi, Yasmin Hamzavi ; Hanebeck, Jennifer ; Hehir-Kwa, Jayne Y. ; Horist, Brooke ; Itai, Toshiyuki ; Jackson, Adam ; Jewell, Rosalyn ; Jones, Kelly L. ; Joss, Shelagh ; Kashii, Hirofumi ; Kato, Mitsuhiro ; Kattentidt-Mouravieva, Anja A. ; Kok, Fernando ; Kotzaeridou, Urania ; Krishnamurthy, Vidya ; Kučinskas, Vaidutis ; Kuechler, Alma ; Lavillaureix, Alinoë ; Liu, Pengfei ; Manwaring, Linda ; Matsumoto, Naomichi ; Mazel, Benoît ; McWalter, Kirsty ; Meiner, Vardiella ; Mikati, Mohamad A. ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Moey, Lip H. ; Mohammed, Shehla ; Mor-Shaked, Hagar ; Mountford, Hayley ; Newbury-Ecob, Ruth ; Odent, Sylvie ; Orec, Laura ; Osmond, Matthew ; Palculict, Timothy B. ; Parker, Michael ; Petersen, Andrea K. ; Pfundt, Rolph ; Preikšaitienė, Eglė ; Radtke, Kelly ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Santiago-Sim, Teresa ; Schwager, Caitlin ; Sinnema, Margje ; Snijders Blok, Lot ; Spillmann, Rebecca C. ; Stegmann, Alexander P.A. ; Thiffault, Isabelle ; Tran, Linh ; Vaknin-Dembinsky, Adi ; Vedovato-dos-Santos, Juliana H. ; Schrier Vergano, Samantha A. ; Vilain, Eric ; Vitobello, Antonio ; Wagner, Matias ; Waheeb, Androu ; Willing, Marcia ; Zuccarelli, Britton ; Kini, Usha ; Newbury, Dianne F. ; Kleefstra, Tjitske ; Reymond, Alexandre ; Fisher, Simon E. ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 4 February 2021 108(2):346-356
Academic Journal
Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S.A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao (趙孝端), Hsiao-Tuan
In The American Journal of Human Genetics 6 June 2024 111(6):1239-1239
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Symonds, Joseph; Park, Kristen; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Geneviève; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie; Cutcutache, Ioana; de Sainte Agathe, Jean‐madeleine; Dyment, David; Elliot, Katherine; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; Mctague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie‐laure; Wolf, Nicole; Wakeling, Emma; Yoon, Grace; Knight, Julian; Zuberi, Sameer
Epilepsia. 65:3303-3323
Academic Journal
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Elmaksoud, Marwa Abd; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S.-Y.; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuß, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-François; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
Nature Communications. 15(1)
Academic Journal
Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gregory; Axford, Michelle M.; Szuto, Anna; McNiven, Vanda
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