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本文引用的文献

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Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.
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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.
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Non-invasive fetal genome sequencing: opportunities and challenges.
Am J Med Genet A. 2012 Oct;158A(10):2382-4. doi: 10.1002/ajmg.a.35545. Epub 2012 Aug 10.
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Non-invasive prenatal measurement of the fetal genome.
Nature. 2012 Jul 19;487(7407):320-4. doi: 10.1038/nature11251.
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Noninvasive whole-genome sequencing of a human fetus.
Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.
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Incidental medical information in whole-exome sequencing.
Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14.
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The impact of genomics on pediatric research and medicine.
Pediatrics. 2012 Jun;129(6):1150-60. doi: 10.1542/peds.2011-3636. Epub 2012 May 7.
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The human microbiome and its potential importance to pediatrics.
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Assessing public attitudes on the retention and use of residual newborn screening blood samples: a focus group study.
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