Evidence map›Paper›PMID 38535312›Full record

ArticleMetabolites2024

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.

Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D Kennedy, Karen L DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S Padmajeya, Sasirekha Palaniswamy and 4 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Metabolites, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Biallelic Loss-of-Function Variant inInternational journal of molecular sciences · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 4 institutions in 3 countries.

Rulan ShaathCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha P.O. Box 34110, Qatar.
Aljazi Al-MaraghiLaboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Haytham AliNeonatal Division, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0001-9253-826X
Jehan AlRayahiDepartment of Pediatric Radiology, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0003-3864-6547
Adam D KennedyMetabolon Inc., Morrisville, NC 27560, USA.ORCID 0000-0001-5391-9457
Karen L DeBalsiMetabolon Inc., Morrisville, NC 27560, USA.
Sura HusseinPrecision Medicine of Diabetes Prevention, Department of Population Genomic Medicine and Human Genetics, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Najwa ElbashirLaboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Sujitha S PadmajeyaLaboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Sasirekha PalaniswamyLaboratory of Genomic Medicine-Precision Medicine Program, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ammira A AkilPrecision Medicine of Diabetes Prevention, Department of Population Genomic Medicine and Human Genetics, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Noha A YousriCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha P.O. Box 34110, Qatar.
Khalid A FakhroCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha P.O. Box 34110, Qatar.ORCID 0000-0002-3150-1276
Qatar Airways (Qatar) · QAMetabolon (United States) · USBaylor College of Medicine · USHamad bin Khalifa University · QA

Funding

Qatar National Research Fund NPRP11S-0110-180250Sidra Medical and Research Center IRF, SDR100034
6 · The paper itself

Abstract

Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more comprehensive understanding of a rare disease with a complex presentation affecting female twins from a consanguineous family. The sisters presented with polymicrogyria, a Dandy-Walker malformation, respiratory distress, and multiorgan dysfunctions. Through WGS, we identified two rare homozygous variants in both subjects, a pathogenic variant in

Indexed as

multi-omics approachesrare complex diseaseuntargeted metabolomicswhole-genome sequencing

Identifiers

PMID38535312
PMCPMC10972350
OpenAlexW4392376595

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.