Connection

CHRISTINE ENG to Sequence Analysis, DNA

This is a "connection" page, showing publications CHRISTINE ENG has written about Sequence Analysis, DNA.
Connection Strength

2.135
  1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2018 Oct 04; 379(14):1353-1362.
    View in: PubMed
    Score: 0.386
  2. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
    View in: PubMed
    Score: 0.295
  3. Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.
    View in: PubMed
    Score: 0.282
  4. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
    View in: PubMed
    Score: 0.273
  5. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
    View in: PubMed
    Score: 0.101
  6. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
    View in: PubMed
    Score: 0.099
  7. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2019 01 10; 380(2):201.
    View in: PubMed
    Score: 0.098
  8. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
    View in: PubMed
    Score: 0.097
  9. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
    View in: PubMed
    Score: 0.087
  10. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
    View in: PubMed
    Score: 0.080
  11. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
    View in: PubMed
    Score: 0.078
  12. 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.
    View in: PubMed
    Score: 0.069
  13. 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.
    View in: PubMed
    Score: 0.067
  14. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. J Genet Couns. 2019 04; 28(2):213-228.
    View in: PubMed
    Score: 0.025
  15. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
    View in: PubMed
    Score: 0.025
  16. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
    View in: PubMed
    Score: 0.021
  17. 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.
    View in: PubMed
    Score: 0.019
  18. 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.
    View in: PubMed
    Score: 0.018
  19. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94.
    View in: PubMed
    Score: 0.016
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.