Evidence map›Paper›PMID 38868576›Full record

ArticleGenes & diseases2024

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding

Konstantin Deutsch, Verena Klämbt, Thomas M Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A Kari, Farkhanda Hafeez and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 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
–field-weighted citation impact
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.

  1. Article
  2. 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

27 authors.

Konstantin DeutschDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Verena KlämbtDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Thomas M KitzlerDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Tilman Jobst-SchwanDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Ronen SchneiderDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Florian BuergerDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Steve SeltzsamDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Sherif El DesokyDepartment of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia.
Jameela A KariDepartment of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia.
Farkhanda HafeezDepartment of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
Maria SzczepańskaDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice 40-752, Poland.
Loai A EidDubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates.
Hazem S AwadDubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates.
Muna Al-SaffarDepartment of Genetics and Genomics, UAE University, Abu Dhabi 15551, United Arab Emirates.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.
Velibor TasicMedical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia.
Camille Nicolas-FrankDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Kirollos YousefDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Luca M SchierbaumDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Sophia SchneiderDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Abdul HalawiDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Izzeldin ElmubarakDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Katharina LembergDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Shirlee ShrilDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Shrikant M ManeDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
Nancy RodigDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Friedhelm HildebrandtDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.

Funding

Renal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8M
NIDDK NIH HHS P30 DK079310
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID38868576
PMCPMC11167256

What OpenQuestion holds

Textmetadata
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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.