Sökresultat - "Danis, Daniel"

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  1. 1
    Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases

    Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases

    Chimirri, Leonardo, Caufield, J Harry, Bridges, Yasemin, Matentzoglu, Nicolas, Gargano, Michael, Cazalla, Mario, Chen, Shihan, Danis, Daniel, Dingemans, Alexander JM, Gehle, Petra, Graefe, Adam SL, Gu, Weihong, Ladewig, Markus S, Lapunzina, Pablo, Nevado, Julián, Niyonkuru, Enock, Ogishima, Soichi, Seelow, Dominik, Castaño, Jair A Tenorio, Turnovec, Marek, de Vries, Bert BA, Wang, Kai, Wissink, Kyran, Yüksel, Zafer, Zucca, Gabriele, Haendel, Melissa A, Mungall, Christopher J, Reese, Justin, Robinson, Peter N

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  2. 2
    A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

    A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

    Danis, Daniel, Bamshad, Michael, Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh, Chimirri, Leonardo, Chong, Jessica, Coleman, Ben, Dalgleish, Raymond, Freeman, Peter, Graefe, Adam, Groza, Tudor, Hansen, Peter, Jacobsen, Julius, Klocperk, Adam, Kusters, Maaike, Ladewig, Markus, Marcello, Anthony, Mattina, Teresa, Mungall, Chris, Munoz-Torres, Monica, Reese, Justin, Rehburg, Filip, Reis, Bárbara, Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish, Thun, Sylvia, Wissink, Kyran, Wagstaff, John, Zocche, David, Haendel, Melissa, Robinson, Peter

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  3. 3
    Predicting the impact of rare variants on RNA splicing in CAGI6

    Predicting the impact of rare variants on RNA splicing in CAGI6

    Lord, Jenny, Oquendo, Carolina Jaramillo, Wai, Htoo A., Douglas, Andrew G. L.Aff1, Aff2, Bunyan, David J.Aff1, Aff3, Wang, Yaqiong, Hu, Zhiqiang, Zeng, Zishuo, Danis, Daniel, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Chang, YuchenAff9, Aff10, Bagnall, Richard D.Aff9, Aff10, Mount, Stephen M., Matthiasardottir, BrynjaAff12, Aff13, Lin, Chiaofeng, Hansen, Thomas van OvereemAff15, Aff16, Leman, RaphaelAff17, Aff18, Martins, Alexandra, Houdayer, ClaudeAff19, Aff20, Krieger, SophieAff17, Aff18, Bakolitsa, Constantina, Peng, Yisu, Kamandula, Akash, Radivojac, Predrag, Baralle, DianaAff1, Aff22, IDs00439023026243_cor1

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  4. 4
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Laurie, StevenAff1, Aff2, Steyaert, WouterAff3, Aff4, de Boer, ElkeAff3, Aff5, Polavarapu, KiranAff6, Schuermans, NikaAff7, Aff8, Aff9, Sommer, Anna K.Aff10, Demidov, German, Ellwanger, Kornelia, Paramonov, IdaAff1, Aff2, Thomas, Coline, Aretz, StefanAff10, Aff13, Baets, JonathanAff14, Aff15, Aff16, Benetti, ElisaAff17, Aff18, Bullich, GemmaAff1, Aff2, Chinnery, Patrick F.Aff19, Aff20, Clayton-Smith, JillAff21, Aff22, Cohen, Enzo, Danis, Daniel, de Sainte Agathe, Jean-Madeleine, Denommé-Pichon, Anne-SophieAff26, Aff27, Diaz-Manera, Jordi, Efthymiou, Stephanie, Faivre, LaurenceAff26, Aff30, Aff31, Aff32, Aff33, Fernandez-Callejo, MarcosAff1, Aff2, Freeberg, Mallory, Garcia-Pelaez, JoséAff34, Aff35, Aff36, Guillot-Noel, Lena, Haack, Tobias B., Hanna, Mike, Hengel, HolgerAff39, Aff40, Horvath, Rita, Houlden, Henry, Jackson, AdamAff21, Aff22, Johansson, Lennart, Johari, Mridul, Kamsteeg, Erik-Jan, Kellner, MelanieAff39, Aff40, Kleefstra, TjitskeAff3, Aff5, Aff43, Aff44, Lacombe, DidierAff45, Aff46, Lochmüller, HannsAff1, Aff6, Aff47, Aff48, Aff49, López-Martín, Estrella, Macaya, Alfons, Marcé-Grau, Anna, Maver, Aleš, Morsy, HebaAff29, Aff53, Muntoni, FrancescoAff54, Aff55, Musacchia, FrancescoAff56, Aff57, Nelson, Isabelle, Nigro, VincenzoAff56, Aff57, Olimpio, CatarinaAff19, Aff58, Oliveira, CarlaAff35, Aff36, Aff37, Paulasová Schwabová, Jaroslava, Pauly, Martje G.Aff60, Aff61, Aff62, Peterlin, Borut, Peters, Sophia, Pfundt, RolphAff3, Aff5, Piluso, Giulio, Piscia, DavideAff1, Aff2, Posada, Manuel, Reich, SelinaAff39, Aff40, Renieri, AlessandraAff17, Aff18, Aff63, Ryba, Lukas, Šablauskas, KarolisAff3, Aff65, Savarese, Marco, Schöls, LudgerAff39, Aff40, Schütz, Leon, Steinke-Lange, VerenaAff66, Aff67, Stevanin, Giovanni, Straub, Volker, Sturm, Marc, Swertz, Morris A., Tartaglia, Marco, te Paske, Iris B. A. W.Aff3, Aff4, Thompson, Rachel, Torella, AnnalauraAff56, Aff57, Trainor, Christina, Udd, BjarneAff42, Aff69, Aff70, Van de Vondel, LiedeweiAff14, Aff15, Aff71, van de Warrenburg, BartAff5, Aff72, van Reeuwijk, JeroenAff3, Aff5, Vandrovcova, Jana, Vitobello, AntonioAff26, Aff27, Vos, JanetAff3, Aff4, Vyhnálková, Emílie, Wijngaard, RobinAff3, Aff4, Wilke, CarloAff39, Aff40, William, DoreenAff73, Aff74, Xu, JishuAff11, Aff39, Aff40, Yaldiz, Burcu, Zalatnai, LucaAff1, Aff2, Zurek, Birte, Brookes, Anthony J., Evangelista, Teresinha, Gilissen, ChristianAff3, Aff4, Graessner, HolmAff11, Aff76, Hoogerbrugge, NicolineAff3, Aff4, Ossowski, StephanAff11, Aff77, Riess, OlafAff11, Aff76, Schüle, RebeccaAff39, Aff40, Synofzik, MatthisAff39, Aff40, Verloes, AlainAff78, Aff79, Matalonga, LeslieAff1, Aff2, Brunner, Han G.Aff3, Aff5, Aff80, Lohmann, KatjaAff61, de Voer, Richarda M.Aff3, Aff4, Töpf, AnaAff28, Vissers, Lisenka E.L.M.Aff3, Aff5, Beltran, SergiAff1, Aff81, IDs4159102403420w_cor1, Hoischen, AlexanderAff3, Aff4, Aff82, IDs4159102403420w_cor2

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  5. 5
    Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases

    Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases

    Reese, Justin T, Chimirri, Leonardo, Danis, Daniel, Caufield, J Harry, Wissink, Kyran, Casiraghi, Elena, Valentini, Giorgio, Haendel, Melissa A, Mungall, Christopher J, Robinson, Peter N

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  6. 6
    Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

    Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

    Delgado-Vega, Angelica MariaAff1, Aff2, IDs41588024019411_cor1, Cederroth, Helene, Taylan, FulyaAff1, Aff2, Ekholm, KatjaAff1, Aff2, Ek, MarleneAff1, Aff2, Thonberg, HåkanAff1, Aff2, Jemt, AndersAff4, Aff5, Nilsson, DanielAff1, Aff6, Eisfeldt, JesperAff1, Aff6, Bilgrav Saether, Kristine, Höijer, IdaAff7, Aff8, Akgun-Dogan, OzlemAff9, Aff10, Aff11, Asano, Yui, Barakat, Tahsin StefanAff13, Aff14, Aff15, Batkovskyte, Dominyka, Baynam, GarethAff16, Aff17, Aff18, Aff19, Bodamer, Olaf, Chetruengchai, WannaAff21, Aff22, Corcoran, PádraicAff7, Aff8, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, RobertoAff31, Aff32, Aff33, Aff34, Gonzaga-Jauregui, Claudia, Grigelioniene, GiedreAff1, Aff2, Groza, TudorAff16, Aff35, Aff36, Aff37, Gunnarsson, Cecilia, Hammarsjö, AnnaAff1, Aff2, Hammond, Charles KumiAff9, Aff39, Hatirnaz Ng, ÖzdenAff10, Aff11, Aff40, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, MariaAff1, Aff2, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, MalinAff1, Aff2, Kvlividze, OlegAff45, Aff46, Lagerstedt-Robinson, KristinaAff1, Aff2, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, StevenAff50, Aff51, Lim, Weng KhongAff35, Aff52, Aff53, Aff54, Liu, Zhandong, Lysenkova Wiklander, MariyaAff8, Aff56, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. StephenAff59, Aff60, Neethiraj, RamprasadAff4, Aff61, Nigro, VincenzoAff62, Aff63, Nordgren, Felix, Nordlund, JessicaAff8, Aff56, Orrsjö, SaraAff65, Aff66, Ottosson, JesperAff65, Aff66, Ozbek, UgurAff10, Aff67, Özdemir, ÖzkanAff10, Aff40, Partin, ClydeAff68, Aff69, Pearce, David A.Aff70, Aff71, Aff72, Aff73, Peck, Raquel, Pedersen, AnnieAff65, Aff66, Pettersson, MariaAff1, Aff2, Pongpanich, MonnatAff75, Aff76, Posada de la Paz, ManuelAff77, Aff78, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, RichardAff1, Aff2, Aff5, Saw, Aung MinAff81, Aff82, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, ChalurmponAff21, Aff22, Tapia-Paez, Isabel, Taruscio, DomenicaAff85, Aff86, Taylor, Julie P., Tkemaladze, TinatinAff88, Aff89, Aff90, Tully, IanAff81, Aff91, Tümer, ZeynepAff92, Aff93, van Zelst-Stams, Wendy A. G., Verloes, AlainAff95, Aff96, Västerviga, EmmaAff97, Aff98, Wang, Sailan, Yang, RachelAff99, Aff100, Yamamoto, ShinyaAff101, Aff102, Yépez, Vicente A., Zhang, Qing, Shotelersuk, VorasukAff21, Aff22, Wiafe, Samuel Agyei, Alanay, YaseminAff9, Aff10, Aff11, Botto, Lorenzo D., Kirmani, Salman, Lumaka, AiméAff57, Aff107, Aff108, Palmer, Elizabeth EmmaAff109, Aff110, Puri, Ratna DuaAff30, Aff111, Wirta, ValtteriAff1, Aff4, Lindstrand, AnnaAff1, Aff2, Buske, Orion J., Cederroth, Mikk, Nordgren, AnnAff1, Aff2, Aff65, Aff66, IDs41588024019411_cor104

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  7. 7
    De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

    De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

    Sundaramurthi, Jagadish, Bagley, Anita, Blau, Hannah, Carmody, Leigh, Crandall, Amy, Danis, Daniel, Gargano, Michael, Gustafson, Anxhela, Raney, Ellen, Shingle, Mallory, Robinson, Peter, Davids, Jon

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  8. 8
    Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.

    Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.

    Groza, Tudor, Wu, Honghan, Dinger, Marcel, Danis, Daniel, Hilton, Coleman, Bagley, Anita, Davids, Jon, Luo, Ling, Lu, Zhiyong, Robinson, Peter

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  9. 9
    Alternative splicing is coupled to gene expression in a subset of variably expressed genes

    Alternative splicing is coupled to gene expression in a subset of variably expressed genes

    Karlebach, GuyAff1, IDs4152502400432w_cor1, Steinhaus, RobinAff2, Aff3, Danis, Daniel, Devoucoux, Maeva, Anczuków, OlgaAff1, Aff4, Aff5, Sheynkman, Gloria, Seelow, DominikAff2, Aff3, Robinson, Peter N.Aff1, Aff2, IDs4152502400432w_cor8

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  10. 10
    A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

    Danis, Daniel 1, 2, Bamshad, Michael J. 3, 4, 5, Bridges, Yasemin 6, Caballero-Oteyza, Andrés 7, 8, Cacheiro, Pilar 6, Carmody, Leigh C. 2, Chimirri, Leonardo 1, Chong, Jessica X. 3, 4, Coleman, Ben 2, Dalgleish, Raymond 9, Freeman, Peter J. 10, Graefe, Adam S.L. 1, Groza, Tudor 11, 12, 13, Hansen, Peter 1, Jacobsen, Julius O.B. 6, Klocperk, Adam 14, Kusters, Maaike 15, 16, Ladewig, Markus S. 17, Marcello, Allison J. 3, Mattina, Teresa 18, 19, Mungall, Christopher J. 20, Munoz-Torres, Monica C. 21, Reese, Justin T. 20, Rehburg, Filip 1, Reis, Bárbara C.S. 22, 23, Schuetz, Catharina 24, 25, 30, Smedley, Damian 6, Strauss, Timmy 24, 25, Sundaramurthi, Jagadish Chandrabose 2, Thun, Sylvia 1, Wissink, Kyran 1, 26, Wagstaff, John F. 9, Zocche, David 27, Haendel, Melissa A. 28, Robinson, Peter N. 1, 2, 29, 31, ∗

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  11. 11
    GA4GH Phenopackets: A Practical Introduction

    GA4GH Phenopackets: A Practical Introduction

    Ladewig, Markus S, Jacobsen, Julius OB, Wagner, Alex H, Danis, Daniel, Kassaby, Baha El, Gargano, Michael, Groza, Tudor, Baudis, Michael, Steinhaus, Robin, Seelow, Dominik, Bechrakis, Nikolaos E, Mungall, Christopher J, Schofield, Paul N, Elemento, Olivier, Smith, Lindsay, McMurry, Julie A, Munoz‐Torres, Monica, Haendel, Melissa A, Robinson, Peter N

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  12. 12
    Phenopacket-tools: Building and validating GA4GH Phenopackets

    Phenopacket-tools: Building and validating GA4GH Phenopackets

    Danis, Daniel, Jacobsen, Julius OB, Wagner, Alex H, Groza, Tudor, Beckwith, Martha A, Rekerle, Lauren, Carmody, Leigh C, Reese, Justin, Hegde, Harshad, Ladewig, Markus S, Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L, Rambla, Jordi, Baudis, Michael, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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  13. 13
    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

    Danis, Daniel, Jacobsen, Julius OB, Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J, Helbig, Ingo, Mungall, Christopher J, Beck, Christine R, Lee, Charles, Smedley, Damian, Robinson, Peter N

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  14. 14
    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

    Jacobsen, Julius OB, Kelly, Catherine, Cipriani, Valentina, Consortium, Genomics England Research, Mungall, Christopher J, Reese, Justin, Danis, Daniel, Robinson, Peter N, Smedley, Damian

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  15. 15
    The GA4GH Phenopacket schema defines a computable representation of clinical data

    The GA4GH Phenopacket schema defines a computable representation of clinical data

    Jacobsen, Julius OB, Baudis, Michael, Baynam, Gareth S, Beckmann, Jacques S, Beltran, Sergi, Buske, Orion J, Callahan, Tiffany J, Chute, Christopher G, Courtot, Mélanie, 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, Köhler, Sebastian, Laraway, Brian J, Lehväslaiho, 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, Núria, 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

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  16. 16

    Denna resultat visas inte till gäster.

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  17. 17
    The Human Phenotype Ontology in 2021

    The Human Phenotype Ontology in 2021

    Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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  18. 18
    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

    Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Jr., Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K.

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  19. 19
    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

    Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe

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  20. 20
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

    Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I, Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R, Moore, Anthony T, Robinson, Peter N, Jacobsen, Julius OB, Smedley, Damian

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