ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05419336 (Child Growth and Development in East London), which is not on this map. Cited by 68 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.
Child Growth and Development in East London
Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews · 2023Guideline
- A phase II basket trial of vosoritide in children with RASopathies, ACAN, and NPR2 deficiency.The Journal of clinical endocrinology and metabolism · 2026Trial
- Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.European journal of human genetics : EJHG · 2019Trial
- Article
- Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.Molecular syndromology · 2026Article
- Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.Human genome variation · 2026Article
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.American journal of human genetics · 2026Article
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.Endocrine connections · 2025Article
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.The Journal of clinical endocrinology and metabolism · 2025Article
- A Novel HeterozygousPhenomics (Cham, Switzerland) · 2025Article
- Differences in growth in prepubertal children with definite growth hormone deficiency, short stature unresponsive to stimulation tests, and idiopathic short stature treated with recombinant human growth hormone: a retrospective study.Frontiers in endocrinology · 2025Article
- Genetic Findings in Short Turkish Children Born to Consanguineous Parents.Hormone research in paediatrics · 2025Observational
- Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.Endocrine connections · 2024Article
- Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.Molecular genetics & genomic medicine · 2024Review
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Unravelling short stature in pediatrics: the crucial role of genetic perspective.Translational pediatrics · 2024Article
- Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.Annals of pediatric endocrinology & metabolism · 2024Article
8 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
24 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13.6% of the 565 patients. Whole-exome sequencing in 200 patients identified additional mutations in known short-stature genes in 16.5% of these patients who manifested only part of the symptomatology. In 15.5% of the 200 patients our findings were of significant clinical relevance. Heterozygous carriers of recessive skeletal dysplasia alleles represented 3.5% of the cases.ConclusionA combined approach of systematic phenotyping, targeted genetic testing, and whole-exome sequencing allows the identification of the underlying cause of short stature in at least 33% of cases, enabling physicians to improve diagnosis, treatment, and genetic counseling. Exome sequencing significantly increases the diagnostic yield and consequently care in patients with short stature.
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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.