Diverse phenotypic expression of NPHP4 mutations in four siblings by Sevcan A Bakkaloğlu, Yaşar Kandur, Tuğba Bedir-Demirdağ, İpek Işık-Gönül, Friedhelm Hildebrandt

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A novel TRPC6 mutation that causes childhood FSGS. by Saskia F Heeringa, Clemens C Möller, Jianyang Du, Lixia Yue, Bernward Hinkes, Gil Chernin, Christopher N Vlangos, Peter F Hoyer, Jochen Reiser, Friedhelm Hildebrandt

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Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics by Ankana Daga, MD, Ana Luz Morales, MD, Shirlee Shril, MD, Elizabeth Benoit, MPH, Dalia Pantel, MD, Angie Aguilar-González, MD, Mario García, MD, Ana C. Onuchic-Whitford, MD, Randall Lou-Meda, MD, Friedhelm Hildebrandt, MD

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Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele by Caroline M. Kolvenbach, Caroline M. Kolvenbach, Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Jeshurun C. Kalanithy, Katharina Lemberg, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter

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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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Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population by Andreia Watanabe, Precil Diego Miranda de Menezes Neves, Kelly Nunes, Antonio Marcondes Lerario, Elieser Hitoshi Watanabe, Frederico Moraes Ferreira, Denise Maria Avancini Costa Malheiros, Amanda de Moraes Narcizo, Mara Sanches Guaragna, Stanley de Almeida Araujo, Thais Medeiros Cruz, Jussara Soares Fontes, Vera Maria Santoro Belangero, Maria Helena Vaisbich, Friedhelm Hildebrandt, Matthew Gordon Sampson, Luiz Fernando Onuchic

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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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