Associated Papers
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Carrer A et al.
Genes, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Mutations in EPHB4 cause human venous valve aplasia.
Lyons O et al.
Jci Insight, 2021
34403370 (PubMed )
Supplement: jciinsight-6-140952-s177.pdf
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S et al.
The Journal of Clinical Investigation, 2016
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