ReviewCurrent opinion in genetics & development2020
Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.
Review in Current opinion in genetics & development, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis 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.
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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.International journal of molecular sciences · 2026Article
- Reclassification of missense variant pathogenicity using ClinGen recommendations for recalibrated PP3/BP4 in silico predictor score thresholds.Genetics in medicine open · 2026Article
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
- Early establishment and life course stability of sex biases in the human brain transcriptome.Cell genomics · 2025Article
- Unique signatures of highly constrained genes across publicly available genomic databases.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors.BMC genomics · 2025Article
- Dilatative fetal cardiomyopathy followed by a mirror syndrome.Wiener medizinische Wochenschrift (1946) · 2024Article
- Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.Genome medicine · 2022Article
- A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.Postepy dermatologii i alergologii · 2022Article
- Overcoming constraints on the detection of recessive selection in human genes from population frequency data.American journal of human genetics · 2022Article
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 2 institutions in 2 countries.
Funding
Abstract
With the advent and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The identification of novel NDD genes and of rare, highly penetrant pathogenic variants is leading to improved understanding of genotype-phenotype correlations. Here we emphasize the importance of large-scale, reference databases such as gnomAD to determine gene and variant level constraints and facilitate gene discovery, variant interpretation, and genotype-phenotype correlations. While the majority of dominant NDD genes are highly intolerant to variation, some apparent exceptions in reference databases are related to the presence of variants in transcripts that are not brain expressed and/or genes that show acquired somatic mosaicism in blood. Multiple NDD genes are being identified where varying phenotypes depend on the mode of inheritance (e.g., dominant or recessive), the nature (e.g., missense or truncating), or location of the mutation. Ongoing genome-wide analyses and targeted functional studies provide enhancements to the annotation of genes, gene products and variants, which will continue to facilitate gene and variant discovery and variant interpretation.
Indexed as
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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.