ArticleFrontiers in pediatrics2020
Whole Exome Sequencing Identifies Three Novel Mutations in the
Article in Frontiers in pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 21 citations in OpenAlex.
- Identification of a Novel homozygous Splice-Site Deletion inPakistan journal of medical sciences · 2026Article
- Exome Sequencing uncovers Homozygous Stop-Gained variant in thePakistan journal of medical sciences · 2026Article
- Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.International journal of molecular sciences · 2025Article
- Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in thePakistan journal of medical sciences · 2024Article
- Whole exome sequencing of a novel homozygous missense variant inBiomedical reports · 2024Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme,Genes · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Genetic diagnosis of fetal microcephaly at a single tertiary center in China.Frontiers in genetics · 2023Article
- The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.Frontiers in neuroscience · 2023Review
- A novel homozygous splice donor variant in theFrontiers in pediatrics · 2023Article
- Clinical whole exome sequencing revealedSaudi journal of biological sciences · 2022Article
- Whole-Exome Sequencing Identifies NovelFrontiers in pediatrics · 2022Article
- Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C inFrontiers in pediatrics · 2022Article
- Updates on Clinical and Genetic Heterogeneity ofFrontiers in pediatrics · 2021Article
- Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in theFrontiers in pediatrics · 2021Article
- A missense variant in thePakistan journal of medical sciencesArticle
- Whole exome sequencing identifies a novel mutation inPakistan journal of medical sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The
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.