Connection

PRZEMYSLAW SZAFRANSKI to Chromosomes, Human, Pair 16

This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Chromosomes, Human, Pair 16.
  1. LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925.
    View in: PubMed
    Score: 0.593
  2. Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. Clin Epigenetics. 2016; 8:112.
    View in: PubMed
    Score: 0.523
  3. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
    View in: PubMed
    Score: 0.128
  4. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
    View in: PubMed
    Score: 0.126
  5. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.
    View in: PubMed
    Score: 0.115
  6. Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Mutat. 2013 Nov; 34(11):1467-71.
    View in: PubMed
    Score: 0.105
  7. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33.
    View in: PubMed
    Score: 0.099
  8. Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. J Med Genet. 2020 05; 57(5):296-300.
    View in: PubMed
    Score: 0.040
  9. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019 04 08; 11(1):60.
    View in: PubMed
    Score: 0.039
  10. Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
    View in: PubMed
    Score: 0.038
  11. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
    View in: PubMed
    Score: 0.024
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.