ReviewQuantitative imaging in medicine and surgery2018
Comprehensive genotype-phenotype correlation in lissencephaly.
Review in Quantitative imaging in medicine and surgery, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.Croatian medical journal · 2026Article
- Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.Neuroradiology · 2026Review
- Women With Genetic Epilepsies.Neurology. Genetics · 2025Review
- Lissencephaly with Congenital Hypothyroidism: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
- Article
- Fetal Brain Development: Regulating Processes and Related Malformations.Life (Basel, Switzerland) · 2022Review
- Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.Pediatric radiology · 2020Review
- Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation.Scientific reports · 2020Article
- Cyclin-dependent kinases and rare developmental disorders.Orphanet journal of rare diseases · 2020Review
- Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.American journal of human genetics · 2019Article
- Fetal and neonatal MRI features ofQuantitative imaging in medicine and surgery · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Malformations of cortical development (MCD) are a heterogenous group of disorders with diverse genotypic and phenotypic variations. Lissencephaly is a subtype of MCD caused by defect in neuronal migration, which occurs between 12 and 24 weeks of gestation. The continuous advancement in the field of molecular genetics in the last decade has led to identification of at least 19 lissencephaly-related genes, most of which are related to microtubule structural proteins (tubulin) or microtubule-associated proteins (MAPs). The aim of this review article is to bring together current knowledge of gene mutations associated with lissencephaly and to provide a comprehensive genotype-phenotype correlation. Illustrative cases will be presented to facilitate the understanding of the described genotype-phenotype correlation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.