CHRISTINE ENG to High-Throughput Nucleotide Sequencing
This is a "connection" page, showing publications CHRISTINE ENG has written about High-Throughput Nucleotide Sequencing.
Connection Strength
1.034
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2019 01 10; 380(2):201.
Score: 0.410
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.103
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2018 Oct 04; 379(14):1353-1362.
Score: 0.101
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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 08; 19(8):936-944.
Score: 0.090
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.085
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.083
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
Score: 0.028
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.026
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.022
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
Score: 0.022
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.022
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 02; 54(2):84-86.
Score: 0.022
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.021