ArticleSaudi journal of biological sciences2020
Next generation sequencing reveals novel homozygous frameshift in
Article in Saudi journal of biological sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Clinical genetics · 2026Article
- Article
- The impact of psuedouridine modification on human tRNA.Biochemical Society transactions · 2026Review
- Trub1-mediated pseudouridylation is dispensable for immune cell development and homeostasis.Genes and immunity · 2026Article
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- Nano-Mod-Amp reveals RNA sequence, structural and cell type specific features of pseudouridylation by PUS7.bioRxiv : the preprint server for biology · 2025Article
- Identification of Important Diagnostic Genes in the Uterine Using Bioinformatics and Machine Learning.Medical journal of the Islamic Republic of Iran · 2025Article
- Why U matters: detection and functions of pseudouridine modifications in mRNAs.Trends in biochemical sciences · 2024Review
- Higher expression of pseudouridine synthase 7 promotes non-small cell lung cancer progression and suggests a poor prognosis.Journal of cardiothoracic surgery · 2023Article
- Integrative profiling of metabolome and transcriptome of skeletal muscle after acute exercise intervention in mice.Frontiers in physiology · 2023Article
- Overexpression of the PLK4 Gene as a Novel Strategy for the Treatment of Autosomal Recessive Microcephaly by Improving Centrosomal Dysfunction.Journal of molecular neuroscience : MN · 2021Article
- Exome sequencing reveled a compound heterozygous mutations inSaudi journal of biological sciences · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, mild to progressive microcephaly, delayed psychomotor development, hyperactivity, seizure, along with mild to swear aggressive behavior. Homozygous frameshift mutation in Pseudouridine Synthase 7, Putative; (PUS7) OMIM# 616,261 NM_019042.3 and splice acceptor variants in Alpha-Aminoadipic Semialdehyde Synthase; (AASS) OMIM# 605,113 NM_005763.3 was funded. Whole exome sequencing (WES) technique was used as tool to identify the molecular diagnostic test. Different bioinformatics analysis done for WES data and we identified two novel mutations one as frameshift mutation c.606_607delGA, p.Ser282CysfsTer9 in the
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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.