CHRISTINE ENG to Sequence Analysis, DNA
This is a "connection" page, showing publications CHRISTINE ENG has written about Sequence Analysis, DNA.
Connection Strength
2.129
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2018 Oct 04; 379(14):1353-1362.
Score: 0.385
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.294
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Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.
Score: 0.281
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.272
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.101
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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: 0.098
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2019 01 10; 380(2):201.
Score: 0.098
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.096
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.087
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.080
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
Score: 0.077
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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
Score: 0.068
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Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 2013 Jun; 70(6):788-91.
Score: 0.066
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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. J Genet Couns. 2019 04; 28(2):213-228.
Score: 0.025
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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: 0.025
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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: 0.021
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Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 Oct; 35(10):1022-9.
Score: 0.019
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.018
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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94.
Score: 0.016