Article
Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.
Genes - 24 Jul 2026
Theodosiou Athina, Kousoulidou Ludmila, Papaevripidou Ioannis, Aristidou Constantia, Alexandrou Angelos, Hadjipanteli Andrea, Votsi Christina, Tomazou Marios, Menelaou Styliana, Efstathiou Demetris, Ioannou Yiannis, Athanasiou Emilia, Papamichael Elena, Christophidou-Anastasiadou Violetta, Ourani Sofia, Evangelidou Paola, Tanteles George A, Sismani Carolina
Abstract excerpt
Background/Objectives: Congenital anomalies and neurodevelopmental disorders frequently co-occur and exhibit substantial genetic and phenotypic heterogeneity, posing a persistent diagnostic challenge. Exome sequencing has become an important first- or second-tier diagnostic tool for these conditions, yet diagnostic yields vary considerably depending on phenotype, ancestry, sequencing strategy, and interpretation,...
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