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Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study..
Eur J Hum Genet
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2024
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders..
medRxiv
2024
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NPJ Genom Med
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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol..
BMJ Open
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2024
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Saunders, CJ, Brunelli, L, Deem, MJ, Farrow, EG, Hegde, M, Stark, Z.
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?.
Clin Chem
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2024
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