Connection

IGNATIA VAN DEN VEYVER to Genetic Diseases, Inborn

This is a "connection" page, showing publications IGNATIA VAN DEN VEYVER has written about Genetic Diseases, Inborn.
  1. The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet. 2020 Sep; 139(9):1121-1130.
    View in: PubMed
    Score: 0.516
  2. 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: 0.383
  3. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011 Jul; 11(6):579-92.
    View in: PubMed
    Score: 0.288
  4. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
    View in: PubMed
    Score: 0.212
  5. Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141.
    View in: PubMed
    Score: 0.175
  6. Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT. PLoS One. 2021; 16(4):e0249695.
    View in: PubMed
    Score: 0.142
  7. Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review. Prenat Diagn. 2019 08; 39(9):666-678.
    View in: PubMed
    Score: 0.126
  8. 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: 0.122
  9. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
    View in: PubMed
    Score: 0.119
  10. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018 01; 38(1):10-19.
    View in: PubMed
    Score: 0.110
  11. Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.
    View in: PubMed
    Score: 0.049
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.