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James R. Lupski
baylor college of medicine
144H指数
1.1K论文数
8.7W被引数
收录论文 415
发表时间
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npj Genomic MedicineIF4.8
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2026-08-13
0
OAAI
Essa Alharby; Malak Ali Alghamdi; Abeer A. Alsofyani; Eissa A. Faqeih; Mohammed Saleh; Chaya N. Murali; Rachel Franciskovich; Jerica Lenberg; Jennifer Friedman; Robin-Tobias Jauss; Rami Abou Jamra; Sophie Rondeau; Sandrine Marlin; Daniel G. Calame; Arthur Sorlin; Jean-Paul Hermand; Mohammed Abdullah Alotaibi; Nada A. Almarghalani; Adriane Cardoso-Demartini; Laurana de Polli Cellin; Nathalia Lisboa Gomes; James R. Lupski; Amel Bouchatal; Julien Van Gils; Benjamin Dauriat; Khaled K. Abu-Amero; Alexander Augusto de Lima Jorge; Almohanad A. Alkayyal; Ahmad Bakur Mahmoud; Naif A. M. Almontashiri.png){kind=icon}
分享.png){kind=icon}
收藏2026-07-170OAAIShaghayegh T. Beheshti; Angad Jolly; Ahmed K. Saad; Haowei Du; Lauren E. Westerfield; Chloe Munderloh; Divya Kalra; Yifan Wu; Yi Chen; Marie-Claude Gingras; Shalini N. Jhangiani; Sarenur Yilmaz; Maha S. Zaki; Daniel G. Calame; Davut Pehlivan; Richard A. Gibbs; Richard A. Lewis; James R. Lupski; Jennifer E. Posey分享收藏Nature GeneticsIF29
2026-05-180OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin分享收藏Nature GeneticsIF29
2026-04-080OAAIRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin分享收藏Nature CommunicationsIF15.7
2026-01-230
OAAIKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard分享收藏NatureIF48.5
2025-11-120PREAI
Moez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery分享收藏Science AdvancesIF12.5
2025-10-170PREAI
Kamal Khan; Erika Tavares; Katherine Bishara; Aysegul Ozanturk; Leila Qebibo; Stephan Frangakis; Daniel G. Calame; Isabelle Meunier; Béatrice Bocquet; Rafal Ploski; Mohammad Ayman Al Khateeb; Dana Marafi; Luke Mansard; Lena Damaj; Richard A. Lewis; Farid Ullah; Thomas Arbogast; Jackson P. Ogden; Madeleine Harion; Marjolaine Willems; Maha S. Zaki; Tobias Bartolomaeus; Anne-Françoise Roux; James R. Lupski; Malgorzata Rydzanicz; Rami Abou Jamra; Francis Ramond; Elise Heon; Lydie Burglen; Erica E. Davis分享收藏分享收藏2025-02-010OAAILessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor分享收藏2025-02-011OAAIAbdalgani, Manar; Hernandez, Evelyn R.; Pedroza, Luis A.; Chinn, Ivan K.; Satter, Lisa R. Forbes; Rider, Nicholas L.; Banerjee, Pinaki P.; Poli, M. Cecilia; Mahapatra, Sanjana; Canter, Debra; Cao, Tram; Shawver, Linda M.; Nandiwada, Sarada L.; Lupski, James R.; Posey, Jennifer E.; Ramakrishnan, Rajasekhar; Mace, Emily M.分享收藏CELL REPORTSIF6.9
2025-01-010OAAIPedroza, Luis A.; van den Haak, Frederique; Frumovitz, Alexander; Hernandez, Evelyn; Hegewisch-Solloa, Everardo; Orange, Tabitha K.; Sheehan, Keri B.; Prockop, Susan; Bodansky, Aaron; Chinn, Ivan K.; Lupski, James R.; Posey, Jennifer E.; Mace, Emily M.; Li, Yu; Orange, Jordan S.分享收藏NATURE COMMUNICATIONSIF15.7
2024-08-220OAAIBanks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, 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; Abd Elmaksoud, Marwa; 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; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.分享收藏GENETICS IN MEDICINEIF6.2
2024-07-010PREAI
Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J.分享收藏2024-07-012OAAIGrochowski, Christopher M.; Bengtsson, Jesse D.; Du, Haowei; Gandhi, Mira; Lun, Ming Yin; Mehaffey, Michele G.; Park, KyungHee; Hoeps, Wolfram; Benito, Eva; Hasenfeld, Patrick; Korbel, Jan O.; Mahmoud, Medhat; Paulin, Luis F.; Jhangiani, Shalini N.; Hwang, James Paul; Bhamidipati, Sravya V.; Muzny, Donna M.; Fatih, Jawid M.; Gibbs, Richard A.; Pendleton, Matthew; Harrington, Eoghan; Juul, Sissel; Lindstrand, Anna; Sedlazeck, Fritz J.; Pehlivan, Davut; Lupski, James R.; Carvalho, Claudia M. B.分享收藏2024-07-013OAAIDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic分享收藏JCI INSIGHTIF6.1
2024-05-080OAAICopeland, Ian; Wonkam-Tingang, Edmond; Gupta-Malhotra, Monesha; Hashmi, S. Shahrukh; Han, Yixing; Jajoo, Aarti; Hall, Nancy J.; Hernandez, Paula P.; Lie, Natasha; Liu, Dan; Xu, Jun; Rosenfeld, Jill; Haldipur, Aparna; Desire, Zelene; Coban-Akdemir, Zeynep H.; Scott, Daryl A.; Li, Qing; Chao, Hsiao-Tuan; Zaske, Ana M.; Lupski, James R.; Milewicz, Dianna M.; Shete, Sanjay; Posey, Jennifer E.; Hanchard, Neil A.分享收藏2024-05-060OAAIHoresh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan分享收藏2024-04-027OAAIHoresh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan分享收藏