Evidence map›Paper›PMID 39715634›Full record

ArticleJournal of medical genetics2025

Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A Rosenfeld, Wen-Hann Tan, Stephanie A Coury, Audrey C Woerner, Jessica Sebastian and 29 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

39 authors.

Jeshurun C KalanithyInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany jkalanithy@uni-bonn.de.ORCID 0009-0001-4527-3999
Enrico MingardoInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Jil D StegmannInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Ramgopal DhakarGenome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.
Tikam Chand DakalGenome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.
Jill A RosenfeldBaylor Genetics Laboratories, Houston, Texas, USA.
Wen-Hann TanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-1593-6149
Stephanie A CouryDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Audrey C WoernerDepartment of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Jessica SebastianDepartment of Pediatrics, Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Paul A LevyDepartment of Pediatrics, Children's Hospital at Montefiore, New York, New York, USA.
Leah R FlemingGenetics and Metabolic Clinic, St Luke's Health System, Boise, Idaho, USA.
Lea WaffenschmidtInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Tobias T LindenbergInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Öznur YilmazInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Khadija ChannabInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
Bimaljeet K BabraInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Andrea ChristInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
Britta EibergerInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
Selina HölzelInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Clara VidicInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
Felix HäberleinInstitute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.
Nina IshorstInstitute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.
Juan E Rodriguez-GaticaClausius Institute of Physical and Theoretical Chemistry, University of Bonn, Bonn, Germany.ORCID 0000-0003-4123-0104
Behnaz PezeshkpoorInstitute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany.
Patrick A KupczykDepartment of Diagnostic and Interventional Radiology, University Hospital Bonn, Bonn, Germany.
Olivier M VanakkerCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Sara LoddoTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Antonio NovelliTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Maria L DenticiMedical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0002-9505-5906
Albert BeckerInstitute for Cellular Neurosciences II, University Hospital Bonn, Bonn, Germany.
Holger ThieleCologne Center for Genomics, University of Cologne, Cologne, Germany.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-4814-6765
James R LupskiMolecular and Human Genetics; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Alina C HilgerResearch Center On Rare Kidney Diseases (RECORD), Erlangen University Hospital, Erlangen, Germany.
Heiko M ReutterInstitute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.ORCID 0000-0002-3591-5265
Waltraut M Merz *Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany.
Gabriel C Dworschak *Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.ORCID 0000-0003-0015-6964
Benjamin Odermatt *Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0M
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831k
NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U01 HG011758NHGRI NIH HHS UM1 HG006542NINDS NIH HHS R35 NS105078Wellcome TrustWellcome Trust WT223718/Z/21/Z
6 · The paper itself

Abstract

backgroundPrevious studies in mouse,

methodsThrough a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies. Exome variant prioritisation prompted

resultsIn total, exome survey identified novel or ultra-rare heterozygous missense variants in

conclusionOur human genetic data and analysis of Tfap2e manipulation in zebrafish indicate a potential role of

Indexed as

Central Nervous SystemMaxillofacial AbnormalitiesTranscription Factor AP-2AnimalsCRISPR-Cas SystemsFemaleHumansMaleMutation, MissensePedigreeZebrafishTranscription Factor AP-2Central Nervous System DiseasesGenetic Diseases, InbornHydrocephalusWhole Exome Sequencing

Identifiers

PMID39715634
PMCPMC11777392

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.