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P631: Genome screening of newborns: What can we find and what’s next?* by Jorune Balciuniene, Ruby Liu, Jonathan Carmichael, Mauro Longoni, Sucheta Bhatt, Madhuri Hegde
Published 2025-01-01Get full text
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P678: Role of de novo variants in genetic disorders with new insights and clinical implications by Babi Ramesh Reddy Nallamilli, Mary Colasanto, Ruby Liu, Naga Guruju, Lakshmanan Jagannathan, Arul Joseph Duraisamy, Jorune Balciuniene, Xiangwen Chen-Deutsch, Rizwan Yousaf, Christin Collins, Lora Bean, Supan Dhillon, Cristina da Silva, Madhuri Hegde
Published 2025-01-01Get full text
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O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs by Nina Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene, Jonathan Berg, François Boemer, Wendy Chung, Heidi Cope, David Eckstein, Nicolas Encina, Laurence Faivre, Alessandra Ferlini, Judit Garcia-Villoria, Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad, Nidhi Shah, Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To, Lilian Downie
Published 2025-01-01Get full text
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