ArticleClinical genetics2015
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
Article in Clinical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Chemical Inhibition of Sterol Biosynthesis.Biomolecules · 2024Pooled it
- Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.The pharmacogenomics journal · 2016Pooled it
- A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Trial
- Sterol pathway disruption in pregnancy: a link to autism.Molecular psychiatry · 2026Article
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.Molecular genetics & genomic medicine · 2026Article
- Article
- Post-lanosterol inhibition profile based classification of commonly used prescription medications.Translational psychiatry · 2025Article
- Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.Journal of proteome research · 2025Article
- Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.Biomolecules · 2025Article
- Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.American journal of medical genetics. Part A · 2025Observational
- Inhibition of post-lanosterol biosynthesis by fentanyl: potential implications for Fetal Fentanyl Syndrome (FFS).Molecular psychiatry · 2024Article
- Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.Orphanet journal of rare diseases · 2022Review
- Dose-Response Effects of 7-Dehydrocholesterol Reductase Inhibitors on Sterol Profiles and Vesicular Stomatitis Virus Replication.ACS pharmacology & translational science · 2022Article
- Metoprolol Inhibits Developmental Brain Sterol Biosynthesis in Mice.Biomolecules · 2022Article
- Medication effects on developmental sterol biosynthesis.Molecular psychiatry · 2022Review
- Review
- Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.Orphanet journal of rare diseases · 2021Article
- Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications.ACS pharmacology & translational science · 2021Article
- Altered Cholesterol Biosynthesis Affects Drug Metabolism.ACS omega · 2021Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
Data from massively parallel sequencing or 'Next Generation Sequencing' of the human exome has reached a critical mass in both public and private databases, in that these collections now allow researchers to critically evaluate population genetics in a manner that was not feasible a decade ago. The ability to determine pathogenic allele frequencies by evaluation of the full coding sequences and not merely a single nucleotide polymorphism (SNP) or series of SNPs will lead to more accurate estimations of incidence. For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. Estimations of the incidence of SLOS have ranged widely from 1:10,000 to 1:70,000 while the carrier frequency has been reported as high as 1 in 30. Using four exome data sets with a total of 17,836 chromosomes, we ascertained a carrier frequency of pathogenic DHRC7 mutations of 1.01%, and predict a SLOS disease incidence of 1/39,215 conceptions. This approach highlights yet another valuable aspect of the exome sequencing databases, to inform clinical and health policy decisions related to genetic counseling, prenatal testing and newborn screening.
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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.