Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

doi:10.3390/genes17080952

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Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Genes - 14 Aug 2026

Loukas Yannis L, Anagnostopoulou Katherine, Thodi Georgia, Spanou Maria, Gavalas Christos, Molou Elina, Antonopoulou Stefania, Poulopoulou Antigoni, Dotsikas Yannis, Alvanou Maria, Tegopoulos Konstantinos, Pons Roser, Tziouvas Konstantinos, Vartzelis Georgios, Skouteli Eleni, Loukatou Eirini, Charitou Antonia, Douros Konstantinos, Siahanidou Soultana, Giorgi Melpomene, Stephanede Artemis, Angeli Maria, Nikolaidou Maria, Kokkinou Eleftheria, Kouri Ioanna, Koute Vasiliki, Frysira Eleni, Dinopoulos Argirios

Abstract excerpt

Background/Objectives: Genomic sequencing can shorten the diagnostic pathway for selected symptomatic neonates and young infants, but evidence from such cohorts should not be extrapolated to population newborn screening. This study describes molecular findings and potential clinical implications in 25 unrelated patients younger than 6 months at referral with heterogeneous, predominantly neurological phenotypes...

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Cohort Studies
Exome Sequencing
Genetic Testing

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Whole Genome Sequencing

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PMID: 42650144
DOI: 10.3390/genes17080952
PMCID: PMC13512880

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RANBP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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