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The Unified Phenotype Ontology : a framework for cross-species integrative phenomics Matentzoglu, 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 Share Save
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Danis, 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. Share Save
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel Share Save
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project Stenton, 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 Share Save
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species Putman, 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. Share Save
The Human Phenotype Ontology in 2024: phenotypes around the world Gargano, 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. Share Save
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo Share Save
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele Crane-Smith, Zoe; De Castro, Sandra C. P.; Nikolopoulou, Evanthia; Wolujewicz, Paul; Smedley, Damian; Lei, Yunping; Mather, Emma; Santos, Chloe; Hopkinson, Mark; Pitsillides, Andrew A.; Genomics England Res Consortium, M. Elisabeth; Finnell, Richard H.; Ross, M. Elisabeth; Copp, Andrew J.; Greene, Nicholas D. E. Share Save
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants Aragam, Krishna G.; Jiang, Tao; Goel, Anuj; Kanoni, Stavroula; Wolford, Brooke N.; Atri, Deepak S.; Weeks, Elle M.; Wang, Minxian; Hindy, George; Zhou, Wei; Grace, Christopher; Roselli, Carolina; Marston, Nicholas A.; Kamanu, Frederick K.; Surakka, Ida; Venegas, Loreto Munoz; Sherliker, Paul; Koyama, Satoshi; Ishigaki, Kazuyoshi; Asvold, Bjorn O.; Brown, Michael R.; Brumpton, Ben; de Vries, Paul S.; Giannakopoulou, Olga; Giardoglou, Panagiota; Gudbjartsson, Daniel F.; Gueldener, Ulrich; Haider, Syed M. Ijlal; Helgadottir, Anna; Ibrahim, Maysson; Kastrati, Adnan; Kessler, Thorsten; Kyriakou, Theodosios; Konopka, Tomasz; Li, Ling; Ma, Lijiang; Meitinger, Thomas; Mucha, Soeren; Munz, Matthias; Murgia, Federico; Nielsen, Jonas B.; Noethen, Markus M.; Pang, Shichao; Reinberger, Tobias; Schnitzler, Gavin; Smedley, Damian; Thorleifsson, Gudmar; von Scheidt, Moritz; Ulirsch, Jacob C.; Arnar, David O.; Burtt, Noel P.; Costanzo, Maria C.; Flannick, Jason; Ito, Kaoru; Jang, Dong-Keun; Kamatani, Yoichiro; Khera, Amit V.; Komuro, Issei; Kullo, Iftikhar J.; Lotta, Luca A.; Nelson, Christopher P.; Roberts, Robert; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Webb, Thomas R.; Baras, Aris; Bjoerkegren, Johan L. M.; Boerwinkle, Eric; Dedoussis, George; Holm, Hilma; Hveem, Kristian; Melander, Olle; Morrison, Alanna C.; Orho-Melander, Marju; Rallidis, Loukianos S.; Ruusalepp, Arno; Sabatine, Marc S.; Stefansson, Kari; Zalloua, Pierre; Ellinor, Patrick T.; Farrall, Martin; Danesh, John; Ruff, Christian T.; Finucane, Hilary K.; Hopewell, Jemma C.; Clarke, Robert; Gupta, Rajat M.; Erdmann, Jeanette; Samani, Nilesh J.; Schunkert, Heribert; Watkins, Hugh; Willer, Cristen J.; Deloukas, Panos; Kathiresan, Sekar; Butterworth, Adam S. Share Save
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The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease Groza, Tudor; Gomez, Federico Lopez; Mashhadi, Hamed Haseli; Munoz-Fuentes, Violeta; Gunes, Osman; Wilson, Robert; Cacheiro, Pilar; Frost, Anthony; Keskivali-Bond, Piia; Vardal, Bora; McCoy, Aaron; Cheng, Tsz Kwan; Santos, Luis; Wells, Sara; Smedley, Damian; Mallon, Ann-Marie; Parkinson, Helen Share Save
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