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A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease? Groza, Tudor; Marcello, Allison J.; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N.; Graessner, Holm; Chong, Jessica X.; Baynam, Gareth; Jamuar, Saumya Shekhar Share Save
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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C. Share Save
A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder Mahdi, Soha S.; Caldeira, Eduarda; Matthews, Harold; Vanneste, Michiel; Nauwelaers, Nele; Yuan, Meng; Bouritsas, Giorgos; Baynam, Gareth S.; Hammond, Peter; Spritz, Richard; Klein, Ophir D.; Bronstein, Michael; Hallgrimsson, Benedikt; Peeters, Hilde; Claes, Peter Share Save
Equity in genomic health policies: a review of policies in the international arena Ralalage, Prabhathi Basnayake; Mitchell, Tala; Zammit, Claire; Baynam, Gareth; Kowal, Emma; Masey, Libby; Mclaughlin, Julie; Boughtwood, Tiffany; Jenkins, Misty; Pratt, Gregory; Ferdinand, Angeline Share Save
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap Jonker, Anneliene H.; Tataru, Elena-Alexandra; Graessner, Holm; Dimmock, David; Jaffe, Adam; Baynam, Gareth; Davies, James; Mitkus, Shruti; Iliach, Oxana; Horgan, Rich; Augustine, Erika F.; Bateman-House, Alison; Pasmooij, Anna Maria Gerdina; Yu, Tim; Synofzik, Matthis; Douville, Julie; Lapteva, Larissa; Brooks, Philip John; O'Connor, Daniel; Aartsma-Rus, Annemieke Share Save
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases van Karnebeek, Clara D. M.; O'Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anais; Groza, Tudor; Jans, Judith J. M.; Lassmann, Timo; Letinturier, Mary Catherine V.; Montgomery, Stephen B.; Robinson, Peter N.; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim Share Save
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Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases (vol, 5056, 2024) Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar Share Save
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment Bhattacharjee, Rudrarup; Jolly, Lachlan A.; Corbett, Mark A.; Wee, Ing Chee; Rao, Sushma R.; Gardner, Alison E.; Ritchie, Tarin; van Hugte, Eline J. H.; Ciptasari, Ummi; Piltz, Sandra; Noll, Jacqueline E.; Nazri, Nazzmer; van Eyk, Clare L.; White, Melissa; Fornarino, Dani; Poulton, Cathryn; Baynam, Gareth; Collins-Praino, Lyndsey E.; Snel, Marten F.; Nadif Kasri, Nael; Hemsley, Kim M.; Thomas, Paul Q.; Kumar, Raman; Gecz, Jozef Share Save
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples Baynam, Gareth; Julkowska, Daria; Bowdin, Sarah; Hermes, Azure; McMaster, Christopher R.; Prichep, Elissa; Richer, Etienne; van der Westhuizen, Francois H.; Repetto, Gabriela M.; Malherbe, Helen; Reichardt, Juergen K. V.; Arbour, Laura; Hudson, Maui; du Plessis, Kelly; Haendel, Melissa; Wilcox, Phillip; Lynch, Sally Ann; Rind, Shamir; Easteal, Simon; Estivill, Xavier; Caron, Nadine; Chongo, Meck; Thomas, Yarlalu; Letinturier, Mary Catherine V.; Vorster, Barend Christiaan Share Save
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease Fear, Vanessa S.; Forbes, Catherine A.; Shaw, Nicole C.; Farley, Kathryn O.; Mantegna, Jessica L.; Htun, Jasmin P.; Syn, Genevieve; Viola, Helena; Cserne Szappanos, Henrietta; Hool, Livia; Ward, Michelle; Baynam, Gareth; Lassmann, Timo 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
The psychosocial impact of childhood dementia on children and their parents: a systematic review Nevin, Suzanne M.; Mcgill, Brittany C.; Kelada, Lauren; Hilton, Gail; Maack, Megan; Elvidge, Kristina L.; Farrar, Michelle A.; Baynam, Gareth; Katz, Naomi T.; Donovan, Leigh; Grattan, Sarah; Signorelli, Christina; Bhattacharya, Kaustuv; Nunn, Kenneth; Wakefield, Claire E. Share Save
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