Connection

CHRISTINE ENG to High-Throughput Nucleotide Sequencing

This is a "connection" page, showing publications CHRISTINE ENG has written about High-Throughput Nucleotide Sequencing.
  1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2019 01 10; 380(2):201.
    View in: PubMed
    Score: 0.411
  2. 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: 0.103
  3. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med. 2018 Oct 04; 379(14):1353-1362.
    View in: PubMed
    Score: 0.101
  4. 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.
    View in: PubMed
    Score: 0.090
  5. 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.
    View in: PubMed
    Score: 0.086
  6. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
    View in: PubMed
    Score: 0.083
  7. 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.
    View in: PubMed
    Score: 0.029
  8. 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: 0.026
  9. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
    View in: PubMed
    Score: 0.022
  10. 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.
    View in: PubMed
    Score: 0.022
  11. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
    View in: PubMed
    Score: 0.022
  12. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 02; 54(2):84-86.
    View in: PubMed
    Score: 0.022
  13. 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.
    View in: PubMed
    Score: 0.021
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.