A hand-curated bibliography of peer-reviewed work on DLL1, NEDBAS, SCDO7, and terminal 6q27 deletions — with direct links to the source. Last verified May 2026.
Original disease description and authoritative gene-level resources.
Fischer-Zirnsak B, Segebrecht L, Schubach M, et al.
First description of NEDBAS: 15 individuals from 12 families with heterozygous DLL1 variants — established the dominant haploinsufficiency mechanism and the OMIM #618709 phenotype entry.
ClinGen Brain Malformation GCEP
Independent expert review classified the DLL1–NEDBAS association as Definitive — the highest evidence tier for a gene-disease relationship.
OMIM curators
Canonical gene entry: 6q27, 11 exons, encodes a 723-aa type-I transmembrane DSL-family ligand for NOTCH receptors.
Animal models and molecular work supporting Notch-pathway disruption.
Aguilar-Hernández L, et al.
Mouse model showing Dll1+/- animals develop the brain abnormalities and behavioural phenotypes seen in patients — provides the first functional evidence supporting haploinsufficiency.
Vertebral segmentation literature relevant to the rare recessive form.
OMIM curators
Catalog entry establishing SCDO7 as a distinct autosomal recessive condition caused by biallelic DLL1 missense variants — to date documented in a single consanguineous family.
Turnpenny PD, Sloman M, Dunwoodie S
Authoritative clinical synopsis of recessive SCDO including DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2, and DLL1 (SCDO7) — diagnostic criteria, surveillance, and management.
Umair M, Younus M, Shafiq S, Nayab A, Alfadhel M
Concise review covering all known SCDO subtypes including the DLL1-associated SCDO7 — useful primer for clinicians evaluating vertebral segmentation defects.
Cytogenetic and prenatal series where DLL1 is part of a larger deletion.
Engwerda A, et al.
Largest cohort to date of terminal 6q deletions — demonstrates that DLL1 loss is a major driver of neurodevelopmental features regardless of additional co-deleted genes.
Multiple authors
Retrospective analysis linking DLL1 haploinsufficiency to specific prenatal brain findings (cerebellar hypoplasia, ventriculomegaly) detectable on fetal imaging.
The DLL1 literature is moving quickly. If you have authored or read a paper that belongs here, please tell us.
Send it to us →