ReviewClinical genetics2013
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
Review in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 69 citations in OpenAlex.
- Whole exome sequencing to identify genetic causes of short stature.Hormone research in paediatrics · 2014Trial
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Genetic analysis of chromosome 2 copy-neutral loss of heterozygosity in paternity testing.International journal of legal medicine · 2026Article
- Achalasia and mental retardation in a child with uniparental disomy ofGastroenterology report · 2025Article
- Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study.Molecular cytogenetics · 2024Article
- Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.Scientific reports · 2024Article
- Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants inGlobal medical genetics · 2024Review
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.Molecular cytogenetics · 2023Article
- Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.Frontiers in genetics · 2023Article
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center.Journal of translational medicine · 2022Article
- A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.Journal of cellular and molecular medicine · 2020Article
- Multiple methods used for type detection of uniparental disomy in paternity testing.International journal of legal medicine · 2020Article
- First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.Molecular genetics & genomic medicine · 2020Article
- Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.American journal of human genetics · 2019Article
- Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.Molecular medicine reports · 2019Article
- Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families.International journal of ophthalmology · 2019Article
- Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant inMolecular vision · 2018Article
- Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.International journal of obesity (2005) · 2016Article
- Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromosome 2. This subject has a complex phenotype including skeletal and renal dysplasia, immune deficiencies, growth failure, retinal degeneration and ovarian insufficiency. Eighteen non-synonymous, rare homozygous variants were identified on chromosome 2. Additionally, five genes with compound heterozygous mutations were detected on other chromosomes that could lead to a disease phenotype independent of the uniparental disomy found in this case. Several candidate genes with potential connection to the phenotype are described but none are definitively proven to be causal. This study highlights the potential for detection of a large number of candidate genes using whole exome sequencing complicating interpretation in both the research and clinical settings. Forums must be created for publication and sharing of detailed phenotypic and genotypic reports to facilitate further biological discoveries and clinical counseling.
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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.