P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing von Al-Ali, Ruslan, Radefeldt, Mandy, Lemke, Sabrina, Pinto-Basto, Jorge, Bauer, Peter

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Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients von Radefeldt, Mandy, Stellmacher-Kaiser, Silke, Krake, Susann, Kragl, Brigitte, Lemke, Sabrina, Beetz, Christian, Bauer, Peter, Junghanß, Christian, Al-Ali, Ruslan

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Genetic evidence for a link between frontotemporal dementia and Parkinson’s disease: the case of RAB32 Ser71Arg von Panzavolta, Andrea, Cavallieri, Francesco, Valzania, Franco, Radefeldt, Mandy, Lemke, Sabrina, Paul, Jefri Jeya, Curado, Filipa, Bauer, Peter, Beetz, Christian, Cerami, Chiara

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Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease von Radefeldt, Mandy, Lemke, Sabrina, Chaichoompu, Kridsadakorn, Paul, Jefri Jeya, Curado, Filipa, Valzania, Franco, Cavallieri, Francesco, Fioravanti, Valentina, Valente, Enza Maria, Avenali, Micol, Negrotti, Anna, Hanagasi, Hasmet A, Thonke, Sven, Matarazzo, Michele, Panzavolta, Andrea, Cerami, Chiara, Westenberger, Ana, Klein, Christine, Bauer, Peter, Beetz, Christian

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A founder DBR1 variant causes a lethal form of congenital ichthyosis von Shamseldin, Hanan E., Sadagopan, Mukunth, Martini, Javier, Al-Ali, Ruslan, Radefeldt, Mandy, Ataei, Mojgan, Lemke, Sabrina, Rahbeeni, Zuhair, Al Mutairi, Fuad, Ababneh, Faroug, AlRukban, Hadeel A., Abdulwahab, Firdous, Alhajj, Saleh Mohammed, Bauer, Peter, Bertoli-Avella, Aida, Alkuraya, Fowzan S.

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Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg von Panzavolta, Andrea, Cavallieri, Francesco, Valzania, Franco, Radefeldt, Mandy, Lemke, Sabrina, Paul, Jefri Jeya, Curado, Filipa, Bauer, Peter, Beetz, Christian, Cerami, Chiara

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METHOD FOR PREPARING AN RNA PREPARATION AND USE THEREOF von RADEFELDT, Mandy, BAUER, Peter, LEMKE, Sabrina, AL-ALI, Ruslan, BEETZ, Christian

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Cracking the Code: Reprogramming the Genetic Script in Prokaryotes and Eukaryotes to Harness the Power of Noncanonical Amino Acids von Jann, Cosimo, Giofré, Sabrina, Bhattacharjee, Rajanya, Lemke, Edward A.

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ELAV Links Paused Pol II to Alternative Polyadenylation in the Drosophila Nervous System von Oktaba, Katarzyna, Zhang, Wei, Lotz, Thea Sabrina, Jun, David Jayhyun, Lemke, Sandra Beatrice, Ng, Samuel Pak, Esposito, Emilia, Levine, Michael, Hilgers, Valérie

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BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1 von Tönjes, Martje, Barbus, Sebastian, Park, Yoon Jung, Wang, Wei, Schlotter, Magdalena, Lindroth, Anders M, Pleier, Sabrina V, Bai, Alfa H C, Karra, Daniela, Piro, Rosario M, Felsberg, Jörg, Addington, Adele, Lemke, Dieter, Weibrecht, Irene, Hovestadt, Volker, Rolli, Claudio G, Campos, Benito, Turcan, Sevin, Sturm, Dominik, Witt, Hendrik, Chan, Timothy A, Herold-Mende, Christel, Kemkemer, Ralf, König, Rainer, Schmidt, Kathrin, Hull, William-Edmund, Pfister, Stefan M, Jugold, Manfred, Hutson, Susan M, Plass, Christoph, Okun, Jürgen G, Reifenberger, Guido, Lichter, Peter, Radlwimmer, Bernhard

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A genetically encoded anomalous SAXS ruler to probe the dimensions of intrinsically disordered proteins von Yu, Miao, Gruzinov, Andrey Yu, Ruan, Hao, Scheidt, Tom, Chowdhury, Aritra, Giofrè, Sabrina, Mohammed, Ahmed S A, Caria, Joana, Sauter, Paul F, Svergun, Dmitri I, Lemke, Edward A

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Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy von Strehlow, Vincent, Rieubland, Claudine, Gallati, Sabina, Kim, Sukhan, Myers, Scott J., Peterson, Vincent, Ramsey, Amy J., Teuscher, Daniel D., Traynelis, Stephen F., Lemke, Johannes R.

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GRIN2A-related disorders: genotype and functional consequence predict phenotype von Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R

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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome von D'Abrusco, Fulvio, Serpieri, Valentina, Taccagni, Cecilia Maria, Garau, Jessica, Cattaneo, Luca, Boggioni, Monica, Gana, Simone, Battini, Roberta, Bertini, Enrico, Zanni, Ginevra, Boltshauser, Eugen, Borgatti, Renato, Romaniello, Romina, Signorini, Sabrina, Leuzzi, Vincenzo, Caputi, Caterina, Manti, Filippo, D'Arrigo, Stefano, De Laurentiis, Arianna, Graziano, Claudio, Lemke, Johannes R, Morelli, Federica, Petković Ramadža, Danijela, Sirchia, Fabio, Giorgio, Elisa, Valente, Enza Maria

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Perioperative complications after pacemaker implantation: higher complication rates with subclavian vein puncture than with cephalic vein cutdown von Hasan, Fuad, Nedios, Sotirios, Karosiene, Zana, Scholten, Marvin, Lemke, Bernd, Tulka, Sabrina, Knippschild, Stephanie, Macher-Heidrich, Susanne, Adomeit, Heinz Jürgen, Zarse, Markus, Bogossian, Harilaos

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Diagnostic implications of genetic copy number variation in epilepsy plus von Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Dijck, Anke, Zuffardi, Orsetta

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Machine learning reveals genetic modifiers of the immune microenvironment of cancer von Riley-Gillis, Bridget, Tsaih, Shirng-Wern, King, Emily, Wollenhaupt, Sabrina, Reeb, Jonas, Peck, Amy R., Wackman, Kelsey, Lemke, Angela, Rui, Hallgeir, Dezso, Zoltan, Flister, Michael J.

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Cephalic Vein Cutdown Is Superior to Subclavian Puncture as Venous Access for Patients with Cardiac Implantable Devices after Long-Term Follow-Up von Knorr, Dario, Bandorski, Dirk, Bogossian, Harilaos, Iliodromitis, Konstantinos, Schiedat, Fabian, Karosiene, Zana, Mijic, Dejan, Lemke, Bernd, Seyfarth, Melchior, Voß, Sabrina, Knippschild, Stephanie, Aweimer, Assem, Zarse, Markus, Kloppe, Axel, Botsios, Spiridon

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A genetically encoded anomalous SAXS ruler to probe the dimensions of intrinsically disordered proteins von Yu, Miao, Gruzinov, Andrey Yu, Ruan, Hao, Scheidt, Tom, Chowdhury, Aritra, Giofrè, Sabrina, Mohammed, Ahmed S A, Caria, Joana, Sauter, Paul F, Svergun, Dmitri I, Lemke, Edward A

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Handbook Bibliometrics von Ball, Rafael

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