Evidence map›Paper›PMID 35812751›Full record

ArticleFrontiers in genetics2022

Expanding the

Glenda M Beaman, Filipa M Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg and 12 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

8 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue-Specific Perspectives.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Review
  3. Haploinsufficiency ofFrontiers in cell and developmental biology · 2025
    Article
  4. Genetic Contributions to Lower Urinary Tract Dysfunction.American journal of medical genetics. Part A · 2025
    Article
  5. Article
  6. Article
  7. HumaneLife · 2024
    Article
  8. Neurogenic Defects Occur inKidney international reports · 2023
    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

22 authors at 11 institutions in 6 countries.

Glenda M BeamanManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Filipa M LopesDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.
Aybike HofmannDepartment of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.
Wolfgang RoeschDepartment of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.
Martin PrommDepartment of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Aykut AkinciDepartment of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey.
Berk BurguDepartment of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey.
Jeroen KnijnenburgDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
Gladys HoSydney Genome Diagnostics, Children's Hospital at Westmead, Westmead, NSW, Australia.
Christina AufschlaegerDepartment of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.
Sylvia DatheDepartment of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.
Marie Antoinette VoelckelDepartment of Medical Genetics, Hospital La Timone, Marseille, France.
Monika CohenCenter for Human Genetics and Laboratory Diagnostics (AHC) Medical Labs Martinsried, Martinsried, Germany.
Wyatt W YueBiosciences Institute, Medical School, Newcastle University, Newcastle, United Kingdom.
Helen M StuartManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Edward A MckenzieProtein Expression Facility, Manchester Institute of Biotechnology, University of Manchester, Manchester, United Kingdom.
Mark ElvinPeak Proteins Ltd., Macclesfield, United Kingdom.
Neil A RobertsDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.
Adrian S WoolfDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.
William G NewmanManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
University Hospital Regensburg · DEHenry Royce Institute · GBAnkara University · TRLeiden University Medical Center · NLUniversity of Manchester · GBGenomics (United Kingdom) · GBHôpital de la Timone · FRManchester University NHS Foundation Trust · GBNewcastle University · GBRoyal Brisbane and Women's Hospital · AUUniversity of Sydney · AU

Funding

Medical Research Council MR/L002744/1Medical Research Council MR/R006237/1Medical Research Council MR/T016809/1
6 · The paper itself

Abstract

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in

Indexed as

heparanase-2HPSE2LRIG2missenseOchoa syndromerare diseasetriplicationurofacial

Identifiers

PMID35812751
PMCPMC9259970
OpenAlexW4283317317

What Socratic 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 Socratic graph.