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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes by Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz
Published 2024-12-01Get full text
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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome by Ronen Schneider, Shirlee Shril, Florian Buerger, Konstantin Deutsch, Kirollos Yousef, Camille N. Frank, Ana C. Onuchic-Whitford, Thomas M. Kitzler, Youying Mao, Verena Klämbt, Muhammad Y. Zahoor, Katharina Lemberg, Amar J. Majmundar, Bshara Mansour, Ken Saida, Steve Seltzsam, Caroline M. Kolvenbach, Lea Maria Merz, Nils D. Mertens, Tobias Hermle, Nina Mann, Dalia Pantel, Abdul A. Halawi, Aaron Bao, Luca Schierbaum, Sophia Schneider, Daanya Salmanullah, Iddo Z. Ben-Dov, Itamar Sagiv, Loai A. Eid, Hazem Subhi H. Awad, Muna Al Saffar, Neveen A. Soliman, Marwa M. Nabhan, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Said Ooda, Hanan M. Fathy, Shrikant Mane, Richard P. Lifton, Michael J.G. Somers, Friedhelm Hildebrandt
Published 2025-03-01Get full text
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