P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Eprem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, Collins, Christin, da Silva, Cristina, Kirmse, Brian, Bleyl, Steven, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
Balciuniene, Jorune, Liu, Ruby, Collins, Christin, Bean, Lora, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
Bean, Lora, Collins, Christin, Guo, Fen, Balciuniene, Jorune, Chen-Deutsch, Xiangwen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Yousaf, Rizwan, Fura, Kristina, Woodman, Amber, Liu, Ruby, Zhang, Jenny, Liebmann, Kate, Gerow, Julia, Chin, Ephrem, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri
Published in JAMA network open (03.07.2023)
Published in JAMA network open (03.07.2023)
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Journal Article