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Pathogenic PHIP Variants are Variably Associated With CAKUT by Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Melissa Pauly, Georgia Vasileiou, Christin Findeisen, Antje Kampmeier, Alma Kuechler, André Reis, Eva Decker, Carsten Bergmann, Konrad Platzer, Velibor Tasic, Karin Michaela Kirschner, Shirlee Shril, Friedhelm Hildebrandt, Wendy K. Chung, Jan Halbritter

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O52: Diagnostic benefits of long-read genome sequencing for short-read negative rare disease cases by Alan Beggs, Tina Truong, Wanqing Shao, Bryan Leland, Kshitij Amar, Mehmet Bugrahan Duz, Nathaniel Edisis, Casie Genetti, Médéric Jeanne, Pratiksha Pradhan, Priyesh Rughani, Luca Schierbaum, Shirlee Shril, Rebecca Stubbs, Malika Sud, Kenney Tuyen, Carly Tyer, Talia Tzadikario, Scott Hickey, Sissel Juul, Piotr Sliz, Monica Wojcik, Friedhelm Hildebrandt, Catherine Brownstein, Miten Jain, Wendy Chung

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Exome analysis links kidney malformations to developmental disorders and reveals causal genes by Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Miguel Verbitsky, Shirlee Shril, Iris Lekkerkerker, Sandy Yang, Atlas Khan, David Fasel, Janewit Wongboonsin, Jeremiah Martino, Juntao Ke, Naama Elefant, Nikita Tomar, Ofek Harnof, Sergey Kisselev, Shiraz Bheda, Sivan Reytan-Miron, Tze Y. Lim, Anna Jamry-Dziurla, Francesca Lugani, Jun Y. Zhang, Maddalena Marasa, Victoria Kolupaeva, Emily E. Groopman, Gina Jin, Iman Ghavami, Kelsey O. Stevens, Arielle C. Coughlin, Byum Hee Kil, Debanjana Chatterjee, Drew Bradbury, Jason Zheng, Karla Mehl, Maria Morban, Rachel Reingold, Stacy Piva, Xueru Mu, Adele Mittrori, Agnieszka Szmigielska, Aleksandra Gliwińska, Andrea Ranghino, Andrew S. Bomback, Andrzej Badenski, Anna Latos-Bielenska, Valentina Capone, Anna Materna-Kiryluk, Antonio Amoroso, Claudia Izzi, Claudio La Scola, David Jonathan Cohen, Domenico Santoro, Dorota Drozdz, Enrico Fiaccadori, Fangming Lin, Francesco Scolari, Francesco Tondolo, Gaetano La Manna, Gerald B. Appel, Gian Marco Ghiggeri, Gianluigi Zaza, Giovanni Montini, Giuseppe Masnata, Grażyna Krzemien, Isabella Pisani, Jai Radhakrishnan, Katarzyna Zachwieja, Loreto Gesualdo, Luigi Biancone, Davide Meneghesso, Malgorzata Mizerska-Wasiak, Marcin Tkaczyk, Marcin Zaniew, Maria K. Borszewska-Kornacka, Maria Szczepanska, Marijan Saraga, Maya K. Rao, Monica Bodria, Monika Miklaszewska, Natalie S. Uy, Olga Baraldi, Omar Bjanid, Pasquale Esposito, Pasquale Zamboli, Pierluigi Marzuillo, Pietro A. Canetta, Przemyslaw Sikora, Rik Westland, Russell J. Crew, Shumyle Alam, Stefano Guarino, Susanna Negrisolo, Thomas Hays, Shrikant Mane, Valeria Grandinetti, Velibor Tasic, Vladimir J. Lozanovski, Yasar Caliskan, David Goldstein, Richard P. Lifton, Iuliana Ionita-Laza, Krzysztof Kiryluk, Albertien M. van Eerde, Friedhelm Hildebrandt, Simone Sanna-Cherchi, Ali G. Gharavi

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