Connection

PRZEMYSLAW SZAFRANSKI to Genetic Predisposition to Disease

This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Genetic Predisposition to Disease.
  1. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
    View in: PubMed
    Score: 0.207
  2. Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Hum Mutat. 2021 06; 42(6):694-698.
    View in: PubMed
    Score: 0.081
  3. 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: 0.073
  4. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
    View in: PubMed
    Score: 0.072
  5. 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: 0.068
  6. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. 2004 Feb 12; 427(6975):640-5.
    View in: PubMed
    Score: 0.025
  7. 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: 0.011
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.