ArticleJournal of medical genetics2019
Mosaicism and incomplete penetrance of
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- NGS-Based Identification of Two NovelInternational journal of molecular sciences · 2024Article
- [Sperm Mosaic Variants and Their Influence on the Offspring].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.Molecular syndromology · 2024Article
- Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.Global medical genetics · 2024Article
- Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.Orphanet journal of rare diseases · 2023Article
- Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling.Research square · 2023Article
- Article
- Case report: A novel mosaic nonsense mutation ofFrontiers in neurology · 2022Article
- Detection of Very Low-Level Somatic MosaicFrontiers in medicine · 2022Article
- Sperm mosaicism: implications for genomic diversity and disease.Trends in genetics : TIG · 2021Review
- Article
- Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.Frontiers in genetics · 2021Article
- The role of somatic mosaicism in brain disease.Current opinion in genetics & development · 2020Review
- Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.Orphanet journal of rare diseases · 2020Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.BMC medical genetics · 2020Article
- Characterization of seizure susceptibility in Pcdh19 mice.Epilepsia · 2020Article
- PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.Frontiers in neurology · 2020Article
- Complex Mosaicism of Two Distinct Mutations in a Female Patient WithFrontiers in genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the
objectiveWe aimed to investigate the occurrence of mosaic
methodsTwo male patients with mosaic
resultsFive mosaic individuals, four males and one female, were identified in total. Mosaic variant was confirmed in multiple somatic tissues from one male patient and in blood from the other male patient. Among 22 female patients harbouring a newly occurred
conclusionOur study provides new insights into phenotype-genotype correlations in
Indexed as
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.