학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 101건 | 목록
1~20
Academic Journal
Ehrenberg, Miriam ; Avraham, Maayan ; Asodu, Sandeep Sarma ; Moye, Abigail R. ; Sangermano, Riccardo ; Rizel, Leah ; Ali-Nasser, Tahleel ; Sher, Ifat ; Gurwitz, David ; Chao, Katherine R. ; Rivera, Antonio ; Webster, Andrew R. ; Rivolta, Carlo ; Newman, Hadas ; Pras, Eran ; Rotenstreich, Ygal ; Banin, Eyal ; Pierce, Eric A. ; Zur, Dinah ; Arno, Gavin ; Bujakowska, Kinga M. ; Lin, Siying ; Sharon, Dror ; Ben-Yosef, Tamar
In Genetics in Medicine June 2025 27(6)
Academic Journal
Silverstein, Sarah ; Orbach, Rotem ; Syeda, Safoora ; Foley, A. Reghan ; Gorokhova, Svetlana ; Meilleur, Katherine G. ; Leach, Meganne E. ; Uapinyoying, Prech ; Chao, Katherine R. ; Donkervoort, Sandra ; Bönnemann, Carsten G.
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Academic Journal
Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn ; Baxter, Samantha ; Chao, Katherine R. ; Singer-Berk, Moriel ; Groopman, Emily ; Wong, Isaac ; England, Eleina ; Goodrich, Julia ; Pais, Lynn ; Austin-Tse, Christina ; DiTroia, Stephanie ; O’Heir, Emily ; Ganesh, Vijay S. ; Wojcik, Monica H. ; Evangelista, Emily ; Snow, Hana ; Osei-Owusu, Ikeoluwa ; Fu, Jack ; Singh, Mugdha ; Mostovoy, Yulia ; Huang, Steve ; Garimella, Kiran ; Kirkham, Samantha L. ; Neil, Jennifer E. ; Shao, Diane D. ; Walsh, Christopher A. ; Argilli, Emanuela ; Le, Carolyn ; Sherr, Elliott H. ; Gleeson, Joseph G. ; Shril, Shirlee ; Schneider, Ronen ; Hildebrandt, Friedhelm ; Sankaran, Vijay G. ; Madden, Jill A. ; Genetti, Casie A. ; Beggs, Alan H. ; Agrawal, Pankaj B. ; Bujakowska, Kinga M. ; Place, Emily ; Pierce, Eric A. ; Donkervoort, Sandra ; Bönnemann, Carsten G. ; Gallacher, Lyndon ; Stark, Zornitza ; Tan, Tiong Yang ; White, Susan M. ; Töpf, Ana ; Straub, Volker ; Fleming, Mark D. ; Pollak, Martin R. ; Õunap, Katrin ; Pajusalu, Sander ; Donald, Kirsten A. ; Bruwer, Zandre ; Ravenscroft, Gianina ; Laing, Nigel G. ; MacArthur, Daniel G. ; Rehm, Heidi L. ; Talkowski, Michael E. ; Brand, Harrison ; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
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
Karczewski, Konrad J. ; Solomonson, Matthew ; Chao, Katherine R. ; Goodrich, Julia K. ; Tiao, Grace ; Lu, Wenhan ; Riley-Gillis, Bridget M. ; Tsai, Ellen A. ; Kim, Hye In ; Zheng, Xiuwen ; Rahimov, Fedik ; Esmaeeli, Sahar ; Grundstad, A. Jason ; Reppell, Mark ; Waring, Jeff ; Jacob, Howard ; Sexton, David ; Bronson, Paola G. ; Chen, Xing ; Hu, Xinli ; Goldstein, Jacqueline I. ; King, Daniel ; Vittal, Christopher ; Poterba, Timothy ; Palmer, Duncan S. ; Churchhouse, Claire ; Howrigan, Daniel P. ; Zhou, Wei ; Watts, Nicholas A. ; Nguyen, Kevin ; Nguyen, Huy ; Mason, Cara ; Farnham, Christopher ; Tolonen, Charlotte ; Gauthier, Laura D. ; Gupta, Namrata ; MacArthur, Daniel G. ; Rehm, Heidi L. ; Seed, Cotton ; Philippakis, Anthony A. ; Daly, Mark J. ; Davis, J. Wade ; Runz, Heiko ; Miller, Melissa R. ; Neale, Benjamin M.
In Cell Genomics 14 September 2022 2(9)
Academic Journal
Adams, Marcia; Aguet, François; Akay, Gulsen; Anderson, Peter; Antonescu, Corina; Arachchi, Harindra M.; Atik, Mehmed M.; Austin-Tse, Christina A.; Babb, Larry; Bacus, Tamara J.; Bahrambeigi, Vahid; Balasubramanian, Suganthi; Bayram, Yavuz; Beaudet, Arthur L.; Beck, Christine R.; Belmont, John W.; Below, Jennifer E.; Bilguvar, Kaya; Boehm, Corinne D.; Boerwinkle, Eric; Boone, Philip M.; Bowne, Sara J.; Brand, Harrison; Buckingham, Kati J.; Byrne, Alicia B.; Calame, Daniel; Campbell, Ian M.; Cao, Xiaolong; Carvalho, Claudia; Chander, Varuna; Chang, Jaime; Chao, Katherine R.; Chinn, Ivan K.; Clarke, Declan; Collins, Ryan L.; Cummings, Beryl; Dardas, Zain; Dawood, Moez; Delano, Kayla; DiTroia, Stephanie P.; Doddapaneni, Harshavardhan; Du, Haowei; Du, Renqian; Duan, Ruizhi; Eldomery, Mohammad; Eng, Christine M.; England, Eleina; Evangelista, Emily; Everett, Selin; Fatih, Jawid; Felsenfeld, Adam; Francioli, Laurent C.; Frazar, Christian D.; Fu, Jack; Gamarra, Emmanuel; Gambin, Tomasz; Gan, Weiniu; Gandhi, Mira; Ganesh, Vijay S.; Garimella, Kiran V.; Gauthier, Laura D.; Giroux, Danielle; Gonzaga-Jauregui, Claudia; Goodrich, Julia K.; Gordon, William W.; Griffith, Sean; Grochowski, Christopher M.; Gu, Shen; Gudmundsson, Sanna; Hall, Stacey J.; Hansen, Adam; Harel, Tamar; Harmanci, Arif O.; Herman, Isabella; Hetrick, Kurt; Hijazi, Hadia; Horike-Pyne, Martha; Hsu, Elvin; Hu, Jianhong; Huang, Yongqing; Hurless, Jameson R.; Jahl, Steve; Jarvik, Gail P.; Jiang, Yunyun; Johanson, Eric; Jolly, Angad; Karaca, Ender; Khayat, Michael; Knight, James; Kolar, J. Thomas; Kumar, Sushant; Lalani, Seema; Laricchia, Kristen M.; Larkin, Kathryn E.; Leal, Suzanne M.; Lemire, Gabrielle; Lewis, Richard A.; Li, He; Ling, Hua; Lipson, Rachel B.; Liu, Pengfei; Lovgren, Alysia Kern; López-Giráldez, Francesc; MacMillan, Melissa P.; Mangilog, Brian E.; Mano, Stacy; Marafi, Dana; Marosy, Beth; Marshall, Jamie L.; Martin, Renan; Marvin, Colby T.; Mawhinney, Michelle; McGee, Sean; McGoldrick, Daniel J.; Mehaffey, Michelle; Mekonnen, Betselote; Meng, Xiaolu; Mitani, Tadahiro; Miyake, Christina Y.; Mohr, David; Morris, Shaine; Mullen, Thomas E.; Murdock, David R.; Murugan, Mullai; Muzny, Donna M.; Myers, Ben; Neira, Juanita; Nguyen, Kevin K.; Nielsen, Patrick M.; Nudelman, Natalie; O’Heir, Emily; O’Leary, Melanie C.; Ongaco, Chrissie; Orange, Jordan; Osei-Owusu, Ikeoluwa A.; Paine, Ingrid S.; Pais, Lynn S.; Paschall, Justin; Patterson, Karynne; Pehlivan, Davut; Pelle, Benjamin; Penney, Samantha; Perez de Acha Chavez, Jorge; Pierce-Hoffman, Emma; Poli, Cecilia M.; Punetha, Jaya; Radhakrishnan, Aparna; Richardson, Matthew A.; Rodrigues, Eliete; Roote, Gwendolin T.; Rosenfeld, Jill A.; Ryke, Erica L.; Sabo, Aniko; Sanchez, Alice; Schrauwen, Isabelle; Scott, Daryl A.; Sedlazeck, Fritz; Serrano, Jillian; Shaw, Chad A.; Shelford, Tameka; Shively, Kathryn M.; Singer-Berk, Moriel; Smith, Joshua D.; Snow, Hana; Snyder, Grace; Solomonson, Matthew; Son, Rachel G.; Song, Xiaofei; Stankiewicz, Pawel; Stephan, Taylorlyn; Sutton, V. Reid; Sveden, Abigail; Sánchez, Diana Cornejo; Tackett, Monica; Talkowski, Michael; Threlkeld, Machiko S.; Tiao, Grace; Udler, Miriam S.; Vail, Laura; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Wang, Gao; Wang, Lu; Wangler, Michael F.; Watts, Nicholas A.; Weisburd, Ben; Weiss, Jeffrey M.; Wheeler, Marsha M.; White, Janson J.; Williamson, Clara E.; Wilson, Michael W.; Wiszniewski, Wojciech; Withers, Marjorie A.; Witmer, Dane; Witzgall, Lauren; Wohler, Elizabeth; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Wu, Nan; Xing, Jinchuan; Yang, Yaping; Yi, Qian; Yuan, Bo; Zeiger, Jordan E.; Zhang, Chaofan; Zhang, Peng; Zhang, Yan; Zhang, Xiaohong; Zhang, Yeting; Zhang, Shifa; Zoghbi, Huda; van den Veyver, Igna; Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J. ; Sobreira, Nara ; Chong, Jessica X. ; Buyske, Steven ; Blue, Elizabeth E. ; Chadwick, Lisa H. ; Coban-Akdemir, Zeynep H. ; Doheny, Kimberly F. ; Davis, Colleen P. ; Lek, Monkol ; Wellington, Christopher ; Jhangiani, Shalini N. ; Gerstein, Mark ; Gibbs, Richard A. ; Lifton, Richard P. ; MacArthur, Daniel G. ; Matise, Tara C. ; Lupski, James R. ; Valle, David ; Bamshad, Michael J. ; Hamosh, Ada ; Mane, Shrikant ; Nickerson, Deborah A. ; Rehm, Heidi L. ; O’Donnell-Luria, Anne
In Genetics in Medicine April 2022 24(4):784-797
Academic Journal
Zampaglione, Erin ; Maher, Matthew ; Place, Emily M. ; Wagner, Naomi E. ; DiTroia, Stephanie ; Chao, Katherine R. ; England, Eleina ; CMG, Broad ; Catomeris, Andrew ; Nassiri, Sherwin ; Himes, Seraphim ; Pagliarulo, Joey ; Ferguson, Charles ; Galdikaité-Braziené, Eglé ; Cole, Brian ; Pierce, Eric A. ; Bujakowska, Kinga M.
In Genetics in Medicine February 2022 24(2):332-343
Academic Journal
Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura ; Danecek, Petr ; Ferla, Matteo P. ; Samocha, Kaitlin E. ; Kaplanis, Joanna ; Gardner, Eugene J. ; Eberhardt, Ruth Y. ; Chao, Katherine R. ; Karczewski, Konrad J. ; Morales, Joannella ; Gallone, Giuseppe ; Balasubramanian, Meena ; Banka, Siddharth ; Gompertz, Lianne ; Kerr, Bronwyn ; Kirby, Amelia ; Lynch, Sally A. ; Morton, Jenny E.V. ; Pinz, Hailey ; Sansbury, Francis H. ; Stewart, Helen ; Zuccarelli, Britton D. ; Cook, Stuart A. ; Taylor, Jenny C. ; Juusola, Jane ; Retterer, Kyle ; Firth, Helen V. ; Hurles, Matthew E. ; Lara-Pezzi, Enrique ; Barton, Paul J.R. ; Whiffin, Nicola
In The American Journal of Human Genetics 3 June 2021 108(6):1083-1094
Academic Journal
Coppens, Sandra ; Barnard, Alison M. ; Puusepp, Sanna ; Pajusalu, Sander ; Õunap, Katrin ; Vargas-Franco, Dorianmarie ; Bruels, Christine C. ; Donkervoort, Sandra ; Pais, Lynn ; Chao, Katherine R. ; Goodrich, Julia K. ; England, Eleina M. ; Weisburd, Ben ; Ganesh, Vijay S. ; Gudmundsson, Sanna ; O’Donnell-Luria, Anne ; Nigul, Mait ; Ilves, Pilvi ; Mohassel, Payam ; Siddique, Teepu ; Milone, Margherita ; Nicolau, Stefan ; Maroofian, Reza ; Houlden, Henry ; Hanna, Michael G. ; Quinlivan, Ros ; Beiraghi Toosi, Mehran ; Ghayoor Karimiani, Ehsan ; Costagliola, Sabine ; Deconinck, Nicolas ; Kadhim, Hazim ; Macke, Erica ; Lanpher, Brendan C. ; Klee, Eric W. ; Łusakowska, Anna ; Kostera-Pruszczyk, Anna ; Hahn, Andreas ; Schrank, Bertold ; Nishino, Ichizo ; Ogasawara, Masashi ; El Sherif, Rasha ; Stojkovic, Tanya ; Nelson, Isabelle ; Bonne, Gisèle ; Cohen, Enzo ; Boland-Augé, Anne ; Deleuze, Jean-François ; Meng, Yao ; Töpf, Ana ; Vilain, Catheline ; Pacak, Christina A. ; Rivera-Zengotita, Marie L. ; Bönnemann, Carsten G. ; Straub, Volker ; Handford, Penny A. ; Draper, Isabelle ; Walter, Glenn A. ; Kang, Peter B.
In The American Journal of Human Genetics 6 May 2021 108(5):840-856
Academic Journal
Donkervoort, Sandra ; Kutzner, Carl E. ; Hu, Ying ; Lornage, Xavière ; Rendu, John ; Stojkovic, Tanya ; Baets, Jonathan ; Neuhaus, Sarah B. ; Tanboon, Jantima ; Maroofian, Reza ; Bolduc, Véronique ; Mroczek, Magdalena ; Conijn, Stefan ; Kuntz, Nancy L. ; Töpf, Ana ; Monges, Soledad ; Lubieniecki, Fabiana ; McCarty, Riley M. ; Chao, Katherine R. ; Governali, Serena ; Böhm, Johann ; Boonyapisit, Kanokwan ; Malfatti, Edoardo ; Sangruchi, Tumtip ; Horkayne-Szakaly, Iren ; Hedberg-Oldfors, Carola ; Efthymiou, Stephanie ; Noguchi, Satoru ; Djeddi, Sarah ; Iida, Aritoshi ; di Rosa, Gabriella ; Fiorillo, Chiara ; Salpietro, Vincenzo ; Darin, Niklas ; Fauré, Julien ; Houlden, Henry ; Oldfors, Anders ; Nishino, Ichizo ; de Ridder, Willem ; Straub, Volker ; Pokrzywa, Wojciech ; Laporte, Jocelyn ; Foley, A. Reghan ; Romero, Norma B. ; Ottenheijm, Coen ; Hoppe, Thorsten ; Bönnemann, Carsten G.
In The American Journal of Human Genetics 3 December 2020 107(6):1078-1095
Academic Journal
Töpf, Ana ; Johnson, Katherine ; Bates, Adam ; Phillips, Lauren ; Chao, Katherine R. ; England, Eleina M. ; Laricchia, Kristen M. ; Mullen, Thomas ; Valkanas, Elise ; Xu, Liwen ; Bertoli, Marta ; Blain, Alison ; Casasús, Ana B. ; Duff, Jennifer ; Mroczek, Magdalena ; Specht, Sabine ; Lek, Monkol ; Ensini, Monica ; MacArthur, Daniel G. ; Akay, Ela ; Alonso-Pérez, Jorge ; Baets, Jonathan ; Barisic, Nina ; Bastian, Alexandra ; Borell, Sabine ; Chamova, Teodora ; Claeys, Kristl ; Colomer, Jaume ; Coppens, Sandra ; Deconinck, Nicolas ; de Ridder, Willem ; Díaz-Manera, Jordi ; Domínguez-González, Cristina ; Duncan, Alexis ; Durmus, Hacer ; Fahmy, Nagia A. ; Farrugia, Maria Elena ; Fernández-Torrón, Roberto ; Gonzalez-Quereda, Lidia ; Haberlova, Jana ; von der Hagen, Maja ; Hahn, Andreas ; Jakovčević, Antonia ; Jerico Pascual, Ivonne ; Kapetanovic, Solange ; Kenina, Viktorija ; Kirschner, Janbernd ; Klein, Andrea ; Kölbel, Heike ; Kostera-Pruszczyk, Anna ; Kulshrestha, Richa ; Lähdetie, Jaana ; Layegh, Mahsa ; Longman, Cheryl ; López de Munain, Adolfo ; Loscher, Wolfgang ; Lusakowska, Anna ; Maddison, Paul ; Magot, Armelle ; Majumdar, Anirban ; Martí, Pilar ; Martínez Arroyo, Amaia ; Mazanec, Radim ; Mercier, Sandra ; Mongini, Tiziana ; Muelas, Nuria ; Nascimento, Andrés ; Nafissi, Shahriar ; Omidi, Shirin ; Ortez, Carlos ; Paquay, Stéphanie ; Pereon, Yann ; Perić, Stojan ; Ponzalino, Valentina ; Rakočević Stojanović, Vidosava ; Remiche, Gauthier ; Rodríguez Sainz, Aida ; Rudnik, Sabine ; Sanchez Albisua, Iciar ; Santos, Manuela ; Schara, Ulrike ; Shatillo, Andriy ; Sertić, Jadranka ; Stephani, Ulrich ; Strang-Karlsson, Sonja ; Sznajer, Yves ; Tanev, Ani ; Tournev, Ivailo ; Van den Bergh, Peter ; Van Parijs, Vinciane ; Vílchez, Juan ; Vill, Katharina ; Vissing, John ; Wallgren-Pettersson, Carina ; Wanschitz, Julia ; Willis, Tracey ; Witting, Nanna ; Zulaica, Miren ; Straub, Volker
In Genetics in Medicine September 2020 22(9):1478-1488
Academic Journal
Ulirsch, Jacob C. ; Verboon, Jeffrey M. ; Kazerounian, Shideh ; Guo, Michael H. ; Yuan, Daniel ; Ludwig, Leif S. ; Handsaker, Robert E. ; Abdulhay, Nour J. ; Fiorini, Claudia ; Genovese, Giulio ; Lim, Elaine T. ; Cheng, Aaron ; Cummings, Beryl B. ; Chao, Katherine R. ; Beggs, Alan H. ; Genetti, Casie A. ; Sieff, Colin A. ; Newburger, Peter E. ; Niewiadomska, Edyta ; Matysiak, Michal ; Vlachos, Adrianna ; Lipton, Jeffrey M. ; Atsidaftos, Eva ; Glader, Bertil ; Narla, Anupama ; Gleizes, Pierre-Emmanuel ; O’Donohue, Marie-Françoise ; Montel-Lehry, Nathalie ; Amor, David J. ; McCarroll, Steven A. ; O’Donnell-Luria, Anne H. ; Gupta, Namrata ; Gabriel, Stacey B. ; MacArthur, Daniel G. ; Lander, Eric S. ; Lek, Monkol ; Da Costa, Lydie ; Nathan, David G. ; Korostelev, Andrei A. ; Do, Ron ; Sankaran, Vijay G. ; Gazda, Hanna T.
In The American Journal of Human Genetics 6 December 2018 103(6):930-947
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
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
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Academic Journal
Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K. ; Foley, A. Reghan ; Pinto e Vairo, Filippo ; Pehlivan, Davut ; Donkervoort, Sandra ; Rosenfeld, Jill A. ; Boyum, Grace E. ; Hu, Ying ; Cong, Anh T.Q. ; Lotze, Timothy E. ; Mohila, Carrie A. ; Saade, Dimah ; Bharucha-Goebel, Diana ; Chao, Katherine R. ; Grunseich, Christopher ; Bruels, Christine C. ; Littel, Hannah R. ; Estrella, Elicia A. ; Pais, Lynn ; Kang, Peter B. ; Zimmermann, Michael T. ; Lupski, James R. ; Lee, Brendan ; Schellenberg, Matthew J. ; Clark, Karl J. ; Wierenga, Klaas J. ; Bönnemann, Carsten G. ; Klee, Eric W.
In The American Journal of Human Genetics 1 June 2023 110(6):989-997
Academic Journal
Hasle, Henrik ; Kline, Ronald M. ; Kjeldsen, Eigil ; Nik-Abdul-Rashid, Nik F. ; Bhojwani, Deepa ; Verboon, Jeffrey M. ; DiTroia, Stephanie P. ; Chao, Katherine R. ; Raaschou-Jensen, Klas ; Palle, Josefine ; Zwaan, C. Michel ; Nyvold, Charlotte Guldborg ; Sankaran, Vijay G. ; Cantor, Alan B.
In Blood 26 May 2022 139(21):3159-3165
Academic Journal
Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca ; Piron-Prunier, Florence ; Ayciriex, Sophie ; Besmond, Claude ; Hubert, Laurence ; Barth, Magalie ; Barbosa, Inês A. ; Deshpande, Charu ; Chitre, Manali ; Mehta, Sarju G. ; Wever, Eric J.M. ; Marcorelles, Pascale ; Donkervoort, Sandra ; Saade, Dimah ; Bönnemann, Carsten G. ; Chao, Katherine R. ; Cai, Chunyu ; Iannaccone, Susan T. ; Dean, Andrew F. ; McFarland, Robert ; Vaz, Frédéric M. ; Delahodde, Agnès ; Taylor, Robert W. ; Rötig, Agnès
In Human Genetics and Genomics Advances 14 April 2022 3(2)
Academic Journal
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; Macarthur, Daniel G.; Oates, Emily C.; O'Donnell‐Luria, Anne; O'Grady, Gina L.; Osei‐Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T.
Annals of Clinical and Translational Neurology. May, 2024, Vol. 11 Issue 5, p1250, 17 p.
Academic Journal
Dobyns, William B. ; Aldinger, Kimberly A. ; Ishak, Gisele E. ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Grout, Megan E. ; Dremmen, Marjolein H.G. ; Schot, Rachel ; Vandervore, Laura ; van Slegtenhorst, Marjon A. ; Wilke, Martina ; Kasteleijn, Esmee ; Lee, Arthur S. ; Barry, Brenda J. ; Chao, Katherine R. ; Szczałuba, Krzysztof ; Kobori, Joyce ; Hanson-Kahn, Andrea ; Bernstein, Jonathan A. ; Carr, Lucinda ; D’Arco, Felice ; Miyana, Kaori ; Okazaki, Tetsuya ; Saito, Yoshiaki ; Sasaki, Masayuki ; Das, Soma ; Wheeler, Marsha M. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Engle, Elizabeth C. ; Verheijen, Frans W. ; Doherty, Dan ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 6 December 2018 103(6):1009-1021
Academic Journal
Syeda, Safoora B.; Lone, Museer A.; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França Jr., Marcondes C.; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D.; Lakhotia, Arpita; Shieh, Perry B.; Foley, A. Reghan; Jackson, Kelly E.; Chao, Katherine R.; Winder, Thomas L.; Catapano, Francesco
Journal of Neurology, Neurosurgery & Psychiatry; Feb2024, Vol. 95 Issue 2, p103-113, 11p
검색 결과 제한하기
제한된 항목
[AR] Chao, Katherine R.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어