The DOI matches its Crossref record; 175 of the 175 references it cites were found in a registry or an index.
The molecular genetics of holoprosencephaly
Open accessAbstract
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. Published 2010 Wiley‐Liss, Inc.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
Massagué, J. (1998) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.67.1.753 · Cited by 7,556
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Mutations affecting segment number and polarity in Drosophila
Nüsslein-Volhard, C., & Wieschaus, E. (1980) · Nature · doi:10.1038/287795a0 · Cited by 4,370
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
Chiang, C., Litingtung, Y., Lee, E., Young, K. E., Corden, J. L., Westphal, H., & Beachy, P. A. (1996) · Nature · doi:10.1038/383407a0 · Cited by 3,062
Effective targeted gene ‘knockdown’ in zebrafish
Nasevicius, A., & Ekker, S. C. (2000) · Nature Genetics · doi:10.1038/79951 · Cited by 2,483
Echelard, Y., Epstein, D. J., St-Jacques, B., Shen, L., Mohler, J., McMahon, J. A., & McMahon, A. P. (1993) · Cell · doi:10.1016/0092-8674(93)90627-3 · Cited by 2,154
Lammer, E. J., Chen, D. T., Hoar, R. M., Agnish, N. D., Benke, P. J., Braun, J. T., Curry, C. J., Fernhoff, P. M., Grix, A. W., Lott, I. T., et al. (1985) · New England Journal of Medicine · doi:10.1056/nejm198510033131401 · Cited by 1,942
Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development
Porter, J. A., Young, K. E., & Beachy, P. A. (1996) · Science · doi:10.1126/science.274.5285.255 · Cited by 1,360
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1196-357 · Cited by 1,152
Self-citation
Cited by
Fetal alcohol spectrum disorder
(2014) · Handbook of Clinical Neurology · doi:10.1016/b978-0-444-62619-6.00026-4 · Cited by 45
The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development
Hoffmeister, M., Prelle, C., Küchler, P., Kovacevic, I., Moser, M., Müller-Esterl, W., & Oess, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0116150 · Cited by 21
Metadata
- Authors
- Roessler, E., & Muenke, M.
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2010-01-26
- Volume
- 154C
- Issue
- 1
- Pages
- 52-61
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2088972764
- Cited by
- 255
- References
- 175
- FWCI
- 19.46
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The molecular genetics of holoprosencephaly. https://app.cochat.ai/papers/10.1002/ajmg.c.30236
- The paper
- Roessler, E., & Muenke, M. (2010). The molecular genetics of holoprosencephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. https://doi.org/10.1002/ajmg.c.30236
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
