Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

PloS one - 1 Jan 2021

Kritioti Evie, Theodosiou Athina, Parpaite Thibaud, Alexandrou Angelos, Nicolaou Nayia, Papaevripidou Ioannis, Séjourné Nina, Coste Bertrand, Christophidou-Anastasiadou Violetta, Tanteles George A, Sismani Carolina

Abstract excerpt

Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations. Here we explore for the first time the genetic aetiology of MMS using whole-exome sequencing (WES) in undiagnosed patients from the Greek-Cypriot population after prior extensive diagnostics workup including karyotype and array-CGH. A total of 100 individuals (37...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cyprus

Share to Exome Sequencing

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 34324503
DOI: 10.1371/journal.pone.0253562
PMCID: PMC8320927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.PMID 34324503Read ↗

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveriesSemantic proximity Read ↗

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsSemantic proximity Read ↗

Identification of gene variants in 30 patients from southeastern China with severe hypospadias by whole-exome sequencing.Semantic proximity Read ↗

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read ↗

Whole exome-based variant profiling and functional network characterization in neural tube defects.Semantic proximity Read ↗

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Semantic proximity Read ↗

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersSemantic proximity Read ↗

Role of whole exome sequencing for unidentified genetic syndromes.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Semantic proximity Read ↗

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.Semantic proximity Read ↗

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 casesSemantic proximity Read ↗

Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.