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.
Connection Strength
2.243
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The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet. 2020 Sep; 139(9):1121-1130.
Score: 0.516
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10).
Score: 0.383
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Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011 Jul; 11(6):579-92.
Score: 0.288
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.212
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Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141.
Score: 0.175
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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.
Score: 0.142
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Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review. Prenat Diagn. 2019 08; 39(9):666-678.
Score: 0.126
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
Score: 0.122
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Score: 0.119
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Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018 01; 38(1):10-19.
Score: 0.110
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Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8.
Score: 0.049