Evidence map›Paper›PMID 36589413›Full record

ArticleHGG advances2023

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of

Hanna K Zieger, Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan A Juranek, Anna Siewert, Annika B Scheer, Frederic Thieme, Elisabeth Mangold, Nina Ishorst and 6 more

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

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 19% 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

7 citing papers in PubMed, 6 citations in OpenAlex.

  1. Comprehensive analysis ofmedRxiv : the preprint server for health sciences · 2026
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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

16 authors at 4 institutions in 1 country.

Hanna K ZiegerInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Leonie WeinholdInstitute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn 53127, Germany.
Axel SchmidtInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Manuel HoltgreweCore Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.
Stefan A JuranekDepartment of Oncology, Hematology and Rheumatology, University Hospital Bonn, Bonn 53127, Germany.
Anna SiewertInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Annika B ScheerInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Frederic ThiemeInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Nina IshorstInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Fabian U BrandInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn 53127, Germany.
Julia WelzenbachInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
Dieter BeuleCore Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.
Katrin PaeschkeDepartment of Oncology, Hematology and Rheumatology, University Hospital Bonn, Bonn 53127, Germany.
Peter M KrawitzInstitute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn 53127, Germany.
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany.
University of Bonn · DEUniversity Hospital Bonn · DEBerlin Institute of Health at Charité - Universitätsmedizin Berlin · DEMax Delbrück Center · DE

Funding

U2C Kids First Admin Supplement - data transferU2CHL138346 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI HEATH, ALLISON · 2017 to 2022
$21.5M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
Health outcomes and improved phenotypic characterization of cleft lip and palateR01DD000295 · DD · UNIVERSITY OF IOWA · PI WEHBY, GEORGE L · 2007 to 2009
$1.4M
NCBDD CDC HHS R01 DD000295NHLBI NIH HHS U2C HL138346NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148
6 · The paper itself

Abstract

Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of rare variants in non-coding regions to nsCL/P etiology are sparse. Here, we re-analyzed available whole-genome sequence (WGS) data from 211 European case-parent trios with nsCL/P and identified 13,522

Indexed as

Cleft LipCleft PalateAllelesGenome-Wide Association StudyHumansMutationallelic spectrumbirth defectmuscle developmentnon-coding genomeorofacial cleftingrare variantstranscription factor binding

Identifiers

PMID36589413
PMCPMC9795529
OpenAlexW4312082636

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.