ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2010
The molecular genetics of holoprosencephaly.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 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
95 citing papers in PubMed, 248 citations in OpenAlex.
- Severe Holoprosencephaly With Arhinencephaly in A Liveborn Neonate: A Case Report.Clinical case reports · 2026Article
- Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.International medical case reports journal · 2026Article
- The Role of the Hedgehog Pathway in Alcohol-Induced Birth Defects.Advances in experimental medicine and biology · 2026Review
- Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.Journal of applied genetics · 2025Article
- Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.Human genome variation · 2025Article
- Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.Children (Basel, Switzerland) · 2024Article
- Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics · 2024Article
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development ofFrontiers in cell and developmental biology · 2024Article
- Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.BMC biology · 2023Article
- TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Gene-alcohol interactions in birth defects.Current topics in developmental biology · 2023Article
- Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.Maxillofacial plastic and reconstructive surgery · 2022Review
- Cell disorientation by loss of SHH-dependent mechanosensation causes cyclopia.Science advances · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
- Zebrafish models of fetal alcohol spectrum disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.Development (Cambridge, England) · 2021Article
- Balloon dilation and rapid maxillary expansion: a novel combination treatment for congenital nasal pyriform aperture stenosis in an infant.Italian journal of pediatrics · 2021Article
- The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.International journal of molecular sciences · 2021Review
- Three mythic giants for common fetal malformation called "cyclopia": Polyphemus, Tepegöz, and Grendel.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf.BMC genomics · 2021Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Holoprosencephaly (HPE) has captivated the imagination of Man for millennia because its most extreme manifestation, the single-eyed cyclopic newborn infant, brings to mind the fantastical creature Cyclops from Greek mythology. Attempting to understand this common malformation of the forebrain in modern medical terms requires a systematic synthesis of genetic, cytogenetic, and environmental information typical for studies of a complex disorder. However, even with the advances in our understanding of HPE in recent years, there are significant obstacles remaining to fully understand its heterogeneity and extensive variability in phenotype. General lessons learned from HPE will likely be applicable to other malformation syndromes. Here we outline the common, and rare, genetic and environmental influences on this conserved developmental program of forebrain development and illustrate the similarities and differences between these malformations in humans and those of animal models.
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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.