ArticleEuropean journal of human genetics : EJHG2012
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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
34 citing papers in PubMed, 55 citations in OpenAlex.
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.Human genetics · 2015Trial
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Prenatal diagnosis and genetic counseling of aThe Journal of international medical research · 2026Article
- Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.Frontiers in pediatrics · 2026Article
- ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.Frontiers in pediatrics · 2025Article
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Overcoming Clinical Resistance to EZH2 Inhibition Using Rational Epigenetic Combination Therapy.Cancer discovery · 2024Article
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.Journal of medical genetics · 2023Review
- KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.Molecular genetics & genomic medicine · 2023Review
- Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.Journal of personalized medicine · 2022Article
- Article
- Whole genome sequencing of 45 Japanese patients with intellectual disability.American journal of medical genetics. Part A · 2021Article
- Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.Journal of clinical medicine · 2021Article
- Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.Translational pediatrics · 2021Article
- Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.American journal of medical genetics. Part A · 2021Article
- Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.Frontiers in pediatrics · 2021Article
- Article
- Two Novel Mutations ofFrontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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Identifiers
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.