학술논문
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'학술논문'
에서 검색결과 249건 | 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. ; Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo ; Thomas, N. Simon ; Ashton, James J. ; Stafford, Imogen ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, Sarah
In Genetics in Medicine April 2024 26(4)
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; 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; Balasubramanyam, 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; Peter Chang, Ta Chen; 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.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; 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; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; 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; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; 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; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; 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.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; 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; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; 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; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; 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.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; Donkervoort, Sandra ; Brodsky, Nina N. ; Carpier, Jean-Marie ; Ji, Weizhen ; Ionita, Cristian ; Roy, Bhaskar ; Morrow, Jon S. ; Darbinyan, Armine ; Iyer, Krishna ; Aul, Ritu B. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; Nelson, Stanley ; Nguyen, Joanne ; Nugent, Kimberly ; Ortega, Lucy ; Goodkin, Howard P. ; Roeder, Elizabeth ; Roy, Sani ; Sapp, Katie ; Saade, Dimah ; Sisodiya, Sanjay M. ; Stals, Karen ; Towner, Shelley ; Wilson, William ; Khokha, Mustafa K. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
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. ; Cheloor Kovilakam, Sruthi ; Gu, Muxin ; Dunn, William G. ; Marando, Ludovica ; Barcena, Clea ; Nik-Zainal, Serena ; Mohorianu, Irina ; Kar, Siddhartha P. ; Fabre, Margarete A. ; Quiros, Pedro M. ; Vassiliou, George S.
In Blood 5 October 2023 142(14):1185-1192
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. 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In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
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In Human Genetics and Genomics Advances 13 April 2023 4(2)
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In Genetics in Medicine January 2023 25(1):76-89
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In Genetics in Medicine May 2022 24(5):1073-1084
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In Genetics in Medicine November 2021 23(11):2138-2149
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In Genetics in Medicine October 2021 23(10):1933-1943
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In Genetics in Medicine February 2021 23(2):408-414
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In Genetics in Medicine December 2020 22(12):2041-2051
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In The American Journal of Human Genetics 4 June 2020 106(6):830-845
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In American Journal of Kidney Diseases April 2025 85(4):465-476
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In: Genetics in Medicine . (Genetics in Medicine, October 2025, 27(10))
Academic Journal
Minten, T.; Bick, S.; Adelson, S.; Green, R.C.; Gehlenborg, N.; Amendola, L.M.; Boemer, F.; Coffey, A.J.; Taft, R.J.; Encina, N.; Ferlini, A.; Kirschner, J.; Russell, B.E.; Servais, L.; Sund, K.L.; Tsipouras, P.; Zouk, H.; Bick, D.; Gold, N.B.; Zygmunt, A.; Ververi, A.; Siu, C.; Ponzi, E.; Bertini, E.; Xinwen, H.; King, J.; Kassahn, K.; Koutsogianni, M.; Valente, M.L.; Pelo, M.J.; Gentile, M.; Orsini, P.; Ficarella, R.; Sansen, S.; Rui, X.; Zhengyan, Z.; Goldenberg, A.; Satija, A.; Lundquist, A.; Ferlini, A.; Wiedemann, A.; Tuff-Lacey, A.; Al-Maraghi, A.; Pichini, A.; Akil, A.A.; Brower, A.; Gaviglio, A.; Ponte, A.; Oza, A.; Posch, A.; Barry, A.; Rohrwasser, A.; Malhotra, A.; Lewis, A.; Wedell, A.; Duintjer, A.; Grueters, A.; Novelli, A.; Bhatatcharjee, A.; Nusair, A.; Bitton, A.; Stray-Pedersen, A.; Thurm, A.; Harmant, A.; Hernan, B.; Lee, B.; Zettler, B.; Boyd, B.; Chung, B.; Kirmse, B.; Greenstein, B.; Bennetts, B.; Webb, B.; Duz, B.; Bupp, C.; Level, C.; Cameron, C.; Siu, C.; Philstrom, C.; Goldman, C.; Lewis, C.; Hobbs, C.; Schaaf, C.; Greene, C.; Leckie, C.; Wu, C.; Kingsley, C.; Vacher, C.; Powell, C.; Kasperaviciute, D.; Gottlieb, D.; Uribe, D.; Niu, D.-M.; Bick, D.; Eckstein, D.; Godler, D.; Ledbetter, D.; Ansel, D.; Khangsar, D.; Carli, D.; Thanos, D.; Pichard, D.; Bailey, D.; Bernstein, D.; Paul Daniel, E.J.; Vengoechea, E.; Krupoderova, E.; Voorhoeve, E.; Agolini, E.; Davoine, E.; Lecommandeur, E.; Drake, E.; Van Steijvoort, E.; Cole, F.S.; Ulph, F.; Alkuraya, F.; Boemer, F.; Gandhi, G.D.; Brown, G.; Bowley, G.; Sahyoun, G.; Charalambidou, G.; Matthijs, G.; Jin, G.; Gumus, G.; Smith, H.; Etheredge, H.; Turner, H.; Cope, H.; Brennenstuhl, H.; Peay, H.; Pickering, H.; Kander, I.; Holm, I.; Rtskhiladze, I.; Buchanan, J.; Galarza-Cornejo, J.; Ojodu, J.; Schleit, J.; Giordano, J.; Merritt, J.; Chance, J.; Ziff, J.; Berg, J.; Balciuniene, J.; González de Aledo-Castillo, J.M.; Dewulf, J.; King, J.; Garcia-Villoria, J.; Yeo, J.; O'Sullivan, J.; Kassahn, K.; Alex, K.; Ellsworth, K.; Mosiewicz, K.; MacDuffie, K.; Langley, K.; GoldenGrant, K.; Danielsen, K.E.; Paleologos, K.; Broomberg, K.; Chan, K.; Hagman, K.; Kalbfleisch, K.; Irvine, K.; Hall, K.; Van Den Bogaert, K.; Sund, K.; Milko, L.; Capacchione, L.; Scully, L.; Faivre, L.; Servais, L.; Horwitz, L.; Rottensten, L.; Kauko, L.; Protopsaltis, L.; Henneman, L.; Downie, L.; Marcelis, L.; Diller, L.; King, L.S.; Gardner, L.; Metherell, L.; St George, L.; Kaplun, L.; Hegde, M.; Siitonen, M.; Bresnahan, M.; Ponikowska, M.; Iascone, M.; Martinez-Fresno, M.; Raia, M.; Dolle, M.; Vu, M.; Aujla, M.; Ellinwood, M.; Pelo, M.; Gentile, M.; Longoni, M.; To, M.; Clarke, M.; Baker, M.; Berenger, M.; Wasserstein, M.; Wright, M.; Nyegaard, M.; Gelb, M.; Watson, M.; Zuccolo, M.; Pirreca, M.; Niemela, M.; van der Burg, M.; Ferrie, M.; Alshehri, M.; Sachedina, N.; Yin-Hsiu Chien, N.; Mikkelsen, N.B.; Bonhomme, N.; Sondheimer, N.; Encina, N.; Kelly, N.; Miller, N.; Shah, N.; Armstrong, N.; Gold, N.; Ceballo, O.C.; Dixit, P.; Lee, P.; Orsini, P.; Tafas, P.; Kruszka, P.; Rollier, P.; Furu, P.; Tsipouras, P.; Twiss, P.; Brooks, P.J.; Teekakirikul, P.; Klein, R.; Badji, R.M.; Heiner-Fokkema, R.; Reimers, R.; Zimmerman, R.; Parad, R.; Scott, R.; Kaukonen, R.; Green, R.; Steiner, R.; Melbardis, R.; Hayeems, R.; Heald, R.; Liu, R.; Hartmanis, S.; Elsea, S.; Norris, S.; Grosse, S.; Lunke, S.; Yusuff, S.; Morgan, S.; Singh, S.; Adelson, S.; Seeloff, S.; Koelker, S.; Coury, S.; Kingsmore, S.; Brenner, S.; Bhatt, S.; Nicklen, S.; Clasper, S.; Drury, S.; Dangouloff, T.; Finkel, T.; Brewster, T.; Minten, T.; Westover, T.; Urv, T.; Defay, T.; Zemojtel, T.; Cox, T.; Bishop, T.; Jensen, U.G.; Stoltze, U.; Mütze, U.; Chung, W.; Chen, W.; Gao, Y.; Quevedo, Y.; Veloudi, Y.; Kousa, Y.; Chen, Y.-R.; Hu, Z.; Stark, Z.
In: Genetics in Medicine . (Genetics in Medicine, July 2025, 27(7))
Academic Journal
Campeau, Philippe M ; Kasperaviciute, Dalia ; Lu, James T ; Burrage, Lindsay C ; Kim, Choel ; Hori, Mutsuki ; Powell, Berkley R ; Stewart, Fiona ; Félix, Têmis Maria ; van den Ende, Jenneke ; Wisniewska, Marzena ; Kayserili, Hülya ; Rump, Patrick ; Nampoothiri, Sheela ; Aftimos, Salim ; Mey, Antje ; Nair, Lal D V ; Begleiter, Michael L ; De Bie, Isabelle ; Meenakshi, Girish ; Murray, Mitzi L ; Repetto, Gabriela M ; Golabi, Mahin ; Blair, Edward ; Male, Alison ; Giuliano, Fabienne ; Kariminejad, Ariana ; Newman, William G ; Bhaskar, Sanjeev S ; Dickerson, Jonathan E ; Kerr, Bronwyn ; Banka, Siddharth ; Giltay, Jacques C ; Wieczorek, Dagmar ; Tostevin, Anna ; Wiszniewska, Joanna ; Cheung, Sau Wai ; Hennekam, Raoul C ; Gibbs, Richard A ; Lee, Brendan H ; Sisodiya, Sanjay M
In Lancet Neurology January 2014 13(1):44-58
Academic Journal
Jawaid, T.; Elbarougy, D.E.; Lavu, S.; Senum, S.R.; Yang, H.; Madsen, C.D.; Schauer, R.S.; Baker, T.A.; Gregory, A.V.; Joli, G.; Dahl, N.K.; Hogan, M.C.; Torres, V.E.; Harris, P.C.; Buia, G.; Audrézet, M.-P.; Cornec-Le Gall, E.; Olinger, E.; Orr, S.E.; Barroso-Gil, M.; Neatu, R.; Sayer, J.A.; McDonnell, S.K.; Bublitz, J.T.; Larson, N.B.; Ma, J.; Kline, T.L.; Gillion, V.; Demoulin, N.; Dahan, K.; Jouret, F.; Perrone, R.D.; Steinman, T.I.; Peters, D.J.M.; Gitomer, B.Y.; Watnick, T.J.; Coto, E.; Chebib, F.T.; Olson, J.E.; Ars, E.; Halbritter, J.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; 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.S.; Lopez, J.F.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; 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In: Journal of the American Society of Nephrology . (Journal of the American Society of Nephrology, 1 June 2025, 36(6):1056-1071)
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