ReviewHuman mutation2022
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.
Review in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 28 citations in OpenAlex.
- Review
- Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.American journal of human genetics · 2025Article
- Clinical signatures of SYNGAP1-related disorders through data integration.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Deciphering the Natural History ofNeurology · 2025Article
- The clinical and genetic spectrum of paediatric speech and language disorders.Brain : a journal of neurology · 2025Article
- A Longitudinal Exploration ofNeurology. Genetics · 2025Review
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.medRxiv : the preprint server for health sciences · 2024Article
- Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide.Frontiers in cell and developmental biology · 2024Review
- Delineating clinical and developmental outcomes in STXBP1-related disorders.Brain : a journal of neurology · 2023Article
- Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.Nature reviews. Neurology · 2023Review
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
- Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.Artificial intelligence in medicine · 2023Article
- Predicting functional effects of ion channel variants using new phenotypic machine learning methods.PLoS computational biology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Making a specific diagnosis in neurodevelopmental disorders is traditionally based on recognizing clinical features of a distinct syndrome, which guides testing of its possible genetic etiologies. Scalable frameworks for genomic diagnostics, however, have struggled to integrate meaningful measurements of clinical phenotypic features. While standardization has enabled generation and interpretation of genomic data for clinical diagnostics at unprecedented scale, making the equivalent breakthrough for clinical data has proven challenging. However, increasingly clinical features are being recorded using controlled dictionaries with machine readable formats such as the Human Phenotype Ontology (HPO), which greatly facilitates their use in the diagnostic space. Improving the tractability of large-scale clinical information will present new opportunities to inform genomic research and diagnostics from a clinical perspective. Here, we describe novel approaches for computational phenotyping to harmonize clinical features, improve data translation through revising domain-specific dictionaries, quantify phenotypic features, and determine clinical relatedness. We demonstrate how these concepts can be applied to longitudinal phenotypic information, which represents a critical element of developmental disorders and pediatric conditions. Finally, we expand our discussion to clinical data derived from electronic medical records, a largely untapped resource of deep clinical information with distinct strengths and weaknesses.
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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.