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J
Julius O.B. Jacobsen
university of florida
31H-index
79Paper Count
7.1KCitation Count
Published Papers 39
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2026-01-01
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Moxon, Sierra A. T.; Solbrig, Harold; Harris, Nomi L.; Kalita, Patrick; Miller, Mark A.; Patil, Sujay; Schaper, Kevin; Bizon, Chris; Caufield, J. Harry; Cuesta, Silvano Cirujano; Cox, Corey; Dekervel, Frank; Dooley, Damion M.; Duncan, William D.; Fliss, Tim; Gehrke, Sarah; Graefe, Adam S. L.; Hegde, Harshad; Ireland, A. J.; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Kroll, Carlo; Linke, David; Ly, Ryan; Matentzoglu, Nicolas; Overton, James A.; Saunders, Jonny L.; Unni, Deepak R.; Vaidya, Gaurav; Vierdag, Wouter-Michiel A. M.; Ruebel, Oliver; Chute, Christopher G.; Brush, Matthew H.; Haendel, Melissa A.; Mungall, Christopher J.
GigaScienceIF3.9
2026-01-010PREAI
Moxon, Sierra A. T.; Solbrig, Harold; Harris, Nomi L.; Kalita, Patrick; Miller, Mark A.; Patil, Sujay; Schaper, Kevin; Bizon, Chris; Caufield, J. Harry; Cuesta, Silvano Cirujano; Cox, Corey; Dekervel, Frank; Dooley, Damion M.; Duncan, William D.; Fliss, Tim; Gehrke, Sarah; Graefe, Adam S. L.; Hegde, Harshad; Ireland, A. J.; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Kroll, Carlo; Linke, David; Ly, Ryan; Matentzoglu, Nicolas; Overton, James A.; Saunders, Jonny L.; Unni, Deepak R.; Vaidya, Gaurav; Vierdag, Wouter-Michiel A. M.; Ruebel, Oliver; Chute, Christopher G.; Brush, Matthew H.; Haendel, Melissa A.; Mungall, Christopher J..png){kind=icon}
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SaveGA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders2025-12-230
OAAILauren Rekerle; Daniel Danis; Filip Rehburg; Adam S.L. Graefe; Viktor Bily; Andrés Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X. Chong; Evan Connelly; Bert B.A. de Vries; Alexander J.M. Dingemans; Michael H. Duyzend; Tomas Freiberger; Petra Gehle; Tudor Groza; Peter Hansen; Julius O.B. Jacobsen; Adam Klocperk; Markus S. Ladewig
2025-12-230OAAILauren Rekerle; Daniel Danis; Filip Rehburg; Adam S.L. Graefe; Viktor Bily; Andrés Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X. Chong; Evan Connelly; Bert B.A. de Vries; Alexander J.M. Dingemans; Michael H. Duyzend; Tomas Freiberger; Petra Gehle; Tudor Groza; Peter Hansen; Julius O.B. Jacobsen; Adam Klocperk; Markus S. LadewigShareSaveGenetic and drug repurposing insights into hypertrophic cardiomyopathy: a machine learning approachEuropean Heart Journal2025-11-050E Apti; H Nicholls; J Jacobsen; D Smedley; N Aung
European Heart JournalIF35.6
2025-11-050PREAI
E Apti; H Nicholls; J Jacobsen; D Smedley; N AungShareSavePharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance databasePLOS MEDICINE2025-03-270
OAAIMagavern, Emma F.; Megase, Maia; Thompson, Jack; Marengo, Gabriel; Jacobsen, Julius; Smedley, Damian; Caulfield, Mark J.
PLOS MEDICINEIF9.9
2025-03-270OAAIMagavern, Emma F.; Megase, Maia; Thompson, Jack; Marengo, Gabriel; Jacobsen, Julius; Smedley, Damian; Caulfield, Mark J.ShareSaveThe Unified Phenotype Ontology : a framework for cross-species integrative phenomicsGENETICS2025-03-170OAAIMatentzoglu, Nicolas; Bello, Susan M.; Stefancsik, Ray; Alghamdi, Sarah M.; Anagnostopoulos, Anna, V; Balhoff, James P.; Balk, Meghan A.; Bradford, Yvonne M.; Bridges, Yasemin; Callahan, Tiffany J.; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C.; Caron, Anita R.; de Souza, Vinicius; Engel, Stacia R.; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L.; Harris, Midori A.; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O. B.; Koehler, Sebastian; Mcmurry, Julie A.; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C.; Parkinson, Helen; Pendlington, Zoe M.; Pilgrim, Clare; Robb, Sofia M. C.; Robinson, Peter N.; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A.; Mungall, Christopher J.; Mclaughlin, James A.; Osumi-Sutherland, David
GENETICSIF5.1
2025-03-170OAAIMatentzoglu, Nicolas; Bello, Susan M.; Stefancsik, Ray; Alghamdi, Sarah M.; Anagnostopoulos, Anna, V; Balhoff, James P.; Balk, Meghan A.; Bradford, Yvonne M.; Bridges, Yasemin; Callahan, Tiffany J.; Caufield, Harry; Cuzick, Alayne; Carmody, Leigh C.; Caron, Anita R.; de Souza, Vinicius; Engel, Stacia R.; Fey, Petra; Fisher, Malcolm; Gehrke, Sarah; Grove, Christian; Hansen, Peter; Harris, Nomi L.; Harris, Midori A.; Harris, Laura; Ibrahim, Arwa; Jacobsen, Julius O. B.; Koehler, Sebastian; Mcmurry, Julie A.; Munoz-Fuentes, Violeta; Munoz-Torres, Monica C.; Parkinson, Helen; Pendlington, Zoe M.; Pilgrim, Clare; Robb, Sofia M. C.; Robinson, Peter N.; Seager, James; Segerdell, Erik; Smedley, Damian; Sollis, Elliot; Toro, Sabrina; Vasilevsky, Nicole; Wood, Valerie; Haendel, Melissa A.; Mungall, Christopher J.; Mclaughlin, James A.; Osumi-Sutherland, DavidShareSaveRare disease gene association discovery in the 100,000 Genomes ProjectNATURE2025-02-262OAAICipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bowl, Michael R.; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; Garcia-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O'Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian
NATUREIF48.5
2025-02-262OAAICipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bowl, Michael R.; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; Garcia-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O'Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, DamianShareSaveA corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery2025-01-014OAAIDanis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N.
2025-01-014OAAIDanis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N.ShareSaveLeveraging clinical intuition to improve accuracy of phenotype-driven prioritizationGENETICS IN MEDICINE2025-01-010Beckwith, Martha A.; Danis, Daniel; Bridges, Yasemin; Jacobsen, Julius O. B.; Smedley, Damian; Robinson, Peter N.
GENETICS IN MEDICINEIF6.2
2025-01-010PREAI
Beckwith, Martha A.; Danis, Daniel; Bridges, Yasemin; Jacobsen, Julius O. B.; Smedley, Damian; Robinson, Peter N.ShareSaveCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectHUMAN GENOMICS2024-04-293OAAIStenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, Anne
HUMAN GENOMICSIF4.3
2024-04-293OAAIStenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; Vannoy, Grace E.; Ditroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O. B.; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S.; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G.; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A.; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E.; Fullerton, Stephanie M.; Radivojac, Predrag; Rehm, Heidi L.; O'Donnell-Luria, AnneShareSaveCAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methodsGENOME BIOLOGY2024-02-2210OAAIJain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.
GENOME BIOLOGYIF9.4
2024-02-2210OAAIJain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; Repo, Susanna; Hoskins, Roger A.; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; Kollipara, Naveen K.; Ly, Melissa; Neumann, Andrew J.; Pal, Lipika R.; Odell, Eric; Pandey, Gaurav; Peters-Petrulewicz, Robin C.; Srinivasan, Rajgopal; Yee, Stephen F.; Yeleswarapu, Sri Jyothsna; Zuhl, Maya; Adebali, Ogun; Patra, Ayoti; Beer, Michael A.; Hosur, Raghavendra; Peng, Jian; Bernard, Brady M.; Berry, Michael; Dong, Shengcheng; Boyle, Alan P.; Adhikari, Aashish; Chen, Jingqi; Hu, Zhiqiang; Wang, Robert; Wang, Yaqiong; Miller, Maximilian; Wang, Yanran; Bromberg, Yana; Turina, Paola; Capriotti, Emidio; Han, James J.; Ozturk, Kivilcim; Carter, Hannah; Babbi, Giulia; Bovo, Samuele; Di Lena, Pietro; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Cline, Melissa S.; De Baets, Greet; Bonache, Sandra; Diez, Orland; Gutierrez-Enriquez, Sara; Fernandez, Alejandro; Montalban, Gemma; Ootes, Lars; Ozkan, Selen; Padilla, Natalia; Riera, Casandra; De la Cruz, Xavier; Diekhans, Mark; Huwe, Peter J.; Wei, Qiong; Xu, Qifang; Dunbrack, Roland L.; Gotea, Valer; Elnitski, Laura; Margolin, Gennady; Fariselli, Piero; Kulakovskiy, Ivan V.; Makeev, Vsevolod J.; Penzar, Dmitry D.; Vorontsov, Ilya E.; Favorov, Alexander V.; Forman, Julia R.; Hasenahuer, Marcia; Fornasari, Maria S.; Parisi, Gustavo; Avsec, Ziga; Celik, Muhammed H.; Thi Yen Duong Nguyen; Gagneur, Julien; Shi, Fang-Yuan; Edwards, Matthew D.; Guo, Yuchun; Tian, Kevin; Zeng, Haoyang; Gifford, David K.; Goke, Jonathan; Zaucha, Jan; Gough, Julian; Ritchie, Graham R. S.; Frankish, Adam; Mudge, Jonathan M.; Harrow, Jennifer; Young, Erin L.; Yu, Yao; Huff, Chad D.; Murakami, Katsuhiko; Nagai, Yoko; Imanishi, Tadashi; Mungall, Christopher J.; Jacobsen, Julius O. B.; Kim, Dongsup; Jeong, Chan-Seok; Jones, David T.; Li, Mulin Jun; Guthrie, Violeta Beleva; Bhattacharya, Rohit; Chen, Yun-Ching; Douville, Christopher; Fan, Jean; Kim, Dewey; Masica, David; Niknafs, Noushin; Sengupta, Sohini; Tokheim, Collin; Turner, Tychele N.; Yeo, Hui Ting Grace; Karchin, Rachel; Shin, Sunyoung; Welch, Rene; Keles, Sunduz; Li, Yue; Kellis, Manolis; Corbi-Verge, Carles; Strokach, Alexey V.; Kim, Philip M.; Klein, Teri E.; Mohan, Rahul; Sinnott-Armstrong, Nicholas A.; Wainberg, Michael; Kundaje, Anshul; Gonzaludo, Nina; Mak, Angel C. Y.; Chhibber, Aparna; Lam, Hugo Y. K.; Dahary, Dvir; Fishilevich, Simon; Lancet, Doron; Lee, Insuk; Bachman, Benjamin; Katsonis, Panagiotis; Lua, Rhonald C.; Wilson, Stephen J.; Lichtarge, Olivier; Bhat, Rajendra R.; Sundaram, Laksshman; Viswanath, Vivek; Bellazzi, Riccardo; Nicora, Giovanna; Rizzo, Ettore; Limongelli, Ivan; Mezlini, Aziz M.; Chang, Ray; Kim, Serra; Lai, Carmen; O'Connor, Robert; Topper, Scott; van den Akker, Jeroen; Zhou, Alicia Y.; Zimmer, Anjali D.; Mishne, Gilad; Bergquist, Timothy R.; Breese, Marcus R.; Guerrero, Rafael F.; Jiang, Yuxiang; Kiga, Nikki; Li, Biao; Mort, Matthew; Pagel, Kymberleigh A.; Pejaver, Vikas; Stamboulian, Moses H.; Thusberg, Janita; Mooney, Sean D.; Teerakulkittipong, Nuttinee; Cao, Chen; Kundu, Kunal; Yin, Yizhou; Yu, Chen-Hsin; Kleyman, Michael; Lin, Chiao-Feng; Stackpole, Mary; Mount, Stephen M.; Eraslan, Gokcen; Mueller, Nikola S.; Naito, Tatsuhiko; Rao, Aliz R.; Azaria, Johnathan R.; Brodie, Aharon; Ofran, Yanay; Garg, Aditi; Pal, Debnath; Hawkins-Hooker, Alex; Kenlay, Henry; Reid, John; Mucaki, Eliseos J.; Rogan, Peter K.; Schwarz, Jana M.; Searls, David B.; Lee, Gyu Rie; Seok, Chaok; Kramer, Andreas; Shah, Sohela; Huang, ChengLai V.; Kirsch, Jack F.; Shatsky, Maxim; Cao, Yue; Chen, Haoran; Karimi, Mostafa; Moronfoye, Oluwaseyi; Sun, Yuanfei; Shen, Yang; Shigeta, Ron; Ford, Colby T.; Nodzak, Conor; Uppal, Aneeta; Shi, Xinghua; Joseph, Thomas; Kotte, Sujatha; Rana, Sadhna; Rao, Aditya; Saipradeep, V. G.; Sivadasan, Naveen; Sunderam, Uma; Stanke, Mario; Su, Andrew; Adzhubey, Ivan; Jordan, Daniel M.; Sunyaev, Shamil; Rousseau, Frederic; Schymkowitz, Joost; Van Durme, Joost; Tavtigian, Sean V.; Carraro, Marco; Giollo, Manuel; Tosatto, Silvio C. E.; Adato, Orit; Carmel, Liran; Cohen, Noa E.; Fenesh, Izila; Holtzer, Iamar; Juven-Gershon, Tamar; Unger, Ron; Niroula, Abhishek; Olatubosun, Ayodeji; Valiaho, Jouni; Yang, Yang; Vihinen, Mauno; Wahl, Mary E.; Chang, Billy; Chong, Ka Chun; Hu, Inchi; Sun, Rui; Wu, William Ka Kei; Xia, Xiaoxuan; Zee, Benny C.; Wang, Maggie H.; Wang, Meng; Wu, Chunlei; Lu, Yutong; Chen, Ken; Yang, Yuedong; Yates, Christopher M.; Kreimer, Anat; Yan, Zhongxia; Yosef, Nir; Zhao, Huying; Wei, Zhipeng; Yao, Zhaomin; Zhou, Fengfeng; Folkman, Lukas; Zhou, Yaoqi; Daneshjou, Roxana; Altman, Russ B.; Inoue, Fumitaka; Ahituv, Nadav; Arkin, Adam P.; Lovisa, Federica; Bonvini, Paolo; Bowdin, Sarah; Gianni, Stefano; Mantuano, Elide; Minicozzi, Velia; Novak, Leonore; Pasquo, Alessandra; Pastore, Annalisa; Petrosino, Maria; Puglisi, Rita; Toto, Angelo; Veneziano, Liana; Chiaraluce, Roberta; Ball, Mad P.; Bobe, Jason R.; Church, George M.; Consalvi, Valerio; Mort, Matthew; Cooper, David N.; Buckley, Bethany A.; Sheridan, Molly B.; Cutting, Garry R.; Scaini, Maria Chiara; Cygan, Kamil J.; Fredericks, Alger M.; Glidden, David T.; Neil, Christopher; Rhine, Christy L.; Fairbrother, William G.; Alontaga, Aileen Y.; Fenton, Aron W.; Matreyek, Kenneth A.; Starita, Lea M.; Fowler, Douglas M.; Loescher, Britt-Sabina; Franke, Andre; Adamson, Scott I.; Graveley, Brenton R.; Gray, Joe W.; Malloy, Mary J.; Kane, John P.; Kousi, Maria; Katsanis, Nicholas; Schubach, Max; Kircher, Martin; Tang, Paul L. F.; Kwok, Pui-Yan; Lathrop, Richard H.; Clark, Wyatt T.; Yu, Guoying K.; LeBowitz, Jonathan H.; Benedicenti, Francesco; Bettella, Elisa; Bigoni, Stefania; Cesca, Federica; Mammi, Isabella; Marino-Bus-Ije, Cristina; Milani, Donatella; Peron, Angela; Polli, Roberta; Sartori, Stefano; Stanzial, Franco; Ioldo, Irene; Turolla, Licia; Aspromonte, Maria C.; Bellini, Mariagrazia; Leonardi, Emanuela; Liu, Xiaoming; Marshall, Christian; McCombie, W. Richard; Elefanti, Lisa; Menin, Chiara; Meyn, M. Stephen; Murgia, Alessandra; Nadeau, Kari C. Y.; Neuhausen, Susan L.; Nussbaum, Robert L.; Pirooznia, Mehdi; Potash, James B.; Dimster-Denk, Dago F.; Rine, Jasper D.; Sanford, Jeremy R.; Snyder, Michael; Tavtigian, Sean V.; Cole, Alina G.; Sun, Song; Verby, Marta W.; Weile, Jochen; Roth, Frederick P.; Tewhey, Ryan; Sabeti, Pardis C.; Campagna, Joan; Refaat, Marwan M.; Wojciak, Julianne; Grubb, Soren; Schmitt, Nicole; Shendure, Jay; Spurdle, Amanda B.; Stavropoulos, Dimitri J.; Walton, Nephi A.; Zandi, Peter P.; Ziv, Elad; Burke, Wylie; Chen, Flavia; Carr, Lawrence R.; Martinez, Selena; Paik, Jodi; Harris-Wai, Julie; Yarborough, Mark; Fullerton, Stephanie M.; Koenig, Barbara A.; McInnes, Gregory; Shigaki, Dustin; Chandonia, John-Marc; Furutsuki, Mabel; Kasak, Laura; Yu, Changhua; Chen, Rui; Cline, Melissa S.; Pandey, Gaurav; Friedberg, Iddo; Getz, Gad A.; Cong, Qian; Kinch, Lisa N.; Zhang, Jing; Grishin, Nick V.; Voskanian, Alin; Kann, Maricel G.; Clark, Wyatt T.; Tran, Elizabeth; Ioannidis, Nilah M.; Hunter, Jesse M.; Udani, Rupa; Cai, Binghuang; Morgan, Alexander A.; Sokolov, Artem; Stuart, Joshua M.; Tavtigian, Sean V.; Minervini, Giovanni; Monzon, Alexander M.; Batzoglou, Serafim; Butte, Atul J.; Church, George M.; Greenblatt, Marc S.; Hart, Reece K.; Hernandez, Ryan; Hubbard, Tim J. P.; Kahn, Scott; O'Donnell-Luria, Anne; Ng, Pauline C.; Shon, John; Tavtigian, Sean V.; Veltman, Joris; Zook, Justin M.ShareSaveThe Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across speciesNUCLEIC ACIDS RESEARCH2023-11-247OAAIPutman, Tim E.; Schaper, Kevin; Matentzoglu, Nicolas; Rubinetti, Vincent P.; Alquaddoomi, Faisal S.; Cox, Corey; Caufield, J. Harry; Elsarboukh, Glass; Gehrke, Sarah; Hegde, Harshad; Reese, Justin T.; Braun, Ian; Bruskiewich, Richard M.; Cappelletti, Luca; Carbon, Seth; Caron, Anita R.; Chan, Lauren E.; Chute, Christopher G.; Cortes, Katherina G.; De Souza, Vinicius; Fontana, Tommaso; Harris, Nomi L.; Hartley, Emily L.; Hurwitz, Eric; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Laraway, Bryan J.; McLaughlin, James A.; McMurry, Julie A.; Moxon, Sierra A. T.; Mullen, Kathleen R.; O'Neil, Shawn T.; Shefchek, Kent A.; Stefancsik, Ray; Toro, Sabrina; Vasilevsky, Nicole A.; Walls, Ramona L.; Whetzel, Patricia L.; Osumi-Sutherland, David; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A.; Munoz-Torres, Monica C.
NUCLEIC ACIDS RESEARCHIF13.1
2023-11-247OAAIPutman, Tim E.; Schaper, Kevin; Matentzoglu, Nicolas; Rubinetti, Vincent P.; Alquaddoomi, Faisal S.; Cox, Corey; Caufield, J. Harry; Elsarboukh, Glass; Gehrke, Sarah; Hegde, Harshad; Reese, Justin T.; Braun, Ian; Bruskiewich, Richard M.; Cappelletti, Luca; Carbon, Seth; Caron, Anita R.; Chan, Lauren E.; Chute, Christopher G.; Cortes, Katherina G.; De Souza, Vinicius; Fontana, Tommaso; Harris, Nomi L.; Hartley, Emily L.; Hurwitz, Eric; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Laraway, Bryan J.; McLaughlin, James A.; McMurry, Julie A.; Moxon, Sierra A. T.; Mullen, Kathleen R.; O'Neil, Shawn T.; Shefchek, Kent A.; Stefancsik, Ray; Toro, Sabrina; Vasilevsky, Nicole A.; Walls, Ramona L.; Whetzel, Patricia L.; Osumi-Sutherland, David; Smedley, Damian; Robinson, Peter N.; Mungall, Christopher J.; Haendel, Melissa A.; Munoz-Torres, Monica C.ShareSaveThe Human Phenotype Ontology in 2024: phenotypes around the worldNUCLEIC ACIDS RESEARCH2023-11-1130OAAIGargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N.
NUCLEIC ACIDS RESEARCHIF13.1
2023-11-1130OAAIGargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N.ShareSavePhenotype-aware prioritisation of rare Mendelian disease variantsTRENDS IN GENETICS2022-12-0113OAAIKelly, Catherine; Szabo, Anita; Pontikos, Nikolas; Arno, Gavin; Robinson, Peter N.; Jacobsen, Jules O. B.; Smedley, Damian; Cipriani, Valentina
TRENDS IN GENETICSIF16.3
2022-12-0113OAAIKelly, Catherine; Szabo, Anita; Pontikos, Nikolas; Arno, Gavin; Robinson, Peter N.; Jacobsen, Jules O. B.; Smedley, Damian; Cipriani, ValentinaShareSaveThe Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practiceGENETICS IN MEDICINE2022-07-013OAAIChin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O. B.; du Souich, Christele; Zhang, Nan; Shefchek, Kent; Prentice, Leah M.; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N.; Boerkoel, Cornelius F.
GENETICS IN MEDICINEIF6.2
2022-07-013OAAIChin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O. B.; du Souich, Christele; Zhang, Nan; Shefchek, Kent; Prentice, Leah M.; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N.; Boerkoel, Cornelius F.ShareSaveThe GA4GH Phenopacket schema defines a computable representation of clinical dataNATURE BIOTECHNOLOGY2022-06-1543OAAIJacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N.
NATURE BIOTECHNOLOGYIF41.7
2022-06-1543OAAIJacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N.ShareSaveEvaluation of phenotype-driven gene prioritization methods for Mendelian diseases2022-05-207OAAIJacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina; Robinson, Peter N.; Smedley, Damian
2022-05-207OAAIJacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina; Robinson, Peter N.; Smedley, DamianShareSavePhenotype-driven approaches to enhance variant prioritization and diagnosis of rare diseaseHUMAN MUTATION2022-04-2723OAAIJacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina; Mungall, Christopher J.; Reese, Justin; Danis, Daniel; Robinson, Peter N.; Smedley, Damian
HUMAN MUTATIONIF3.7
2022-04-2723OAAIJacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina; Mungall, Christopher J.; Reese, Justin; Danis, Daniel; Robinson, Peter N.; Smedley, DamianShareSaveThe RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesHUMAN MUTATION2022-02-1732OAAILaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
HUMAN MUTATIONIF3.7
2022-02-1732OAAILaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, SergiShareSave100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report2021-11-11364OAAISmedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark
2021-11-11364OAAISmedley, Damian; Smith, Katherine R.; Martin, Antonio; Thomas, Ellen A.; McDonagh, Ellen M.; Cipriani, Valentina; Ellingford, Jamie M.; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J.; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R.; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmstrom, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R. Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G.; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Graf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G.; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L. T.; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E.; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Wright, Caroline F.; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A.; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R.; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, MarkShareSaveInterpretable prioritization of splice variants in diagnostic next-generation sequencing (vol 108, pg 1564, 2021)2021-11-019OAAIDanis, Daniel; Jacobsen, Julius O. B.; Carmody, Leigh C.; Gargano, Michael A.; McMurry, Julie A.; Hegde, Ayushi; Haendel, Melissa A.; Valentini, Giorgio; Smedley, Damian; Robinson, Peter N.
2021-11-019OAAIDanis, Daniel; Jacobsen, Julius O. B.; Carmody, Leigh C.; Gargano, Michael A.; McMurry, Julie A.; Hegde, Ayushi; Haendel, Melissa A.; Valentini, Giorgio; Smedley, Damian; Robinson, Peter N.ShareSaveResearch Directions
No research directions