ArticleFrontiers in cell and developmental biology2022
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Article in Frontiers in cell and developmental biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
6.9field-weighted citation impact, top 3% of its field
What it found
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Single-cell proteomic landscape of the developing human brain.Nature biotechnology · 2026Article
- Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities.Journal of clinical medicine · 2026Article
- Differential phosphorylation of PHIP phosphopeptides with implications in insulin signaling.BMC molecular and cell biology · 2026Article
- Sleep-Disordered Breathing in Chung-Jansen Syndrome.International journal of molecular sciences · 2026Article
- Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity.Hormone research in paediatrics · 2026Article
- Comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) and Chung-Jansen Syndrome: Case Report and Review of Literature.Clinical case reports · 2025Article
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.International journal of obesity (2005) · 2025Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- Broadening theChildren (Basel, Switzerland) · 2024Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv : the preprint server for health sciences · 2024Article
- Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.Current obesity reports · 2024Review
- Pathogenic PHIP Variants are Variably Associated With CAKUT.Kidney international reports · 2024Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.Research square · 2024Article
- Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.American journal of medical genetics. Part A · 2024Article
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome.Frontiers in pediatrics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
37 authors at 18 institutions in 6 countries.
Antje KampmeierInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Elsa LeitãoInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Ilaria ParentiInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Jasmin BeygoInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Christel DepienneInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Nuria C BramswigInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Tzung-Chien HsiehInstitut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Alexandra AfenjarDépartement de génétique et embryologie médicale, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Hôpital Trousseau, APHP Sorbonne Université, Paris, France.
Stefanie Beck-WödlInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Ute GrasshoffInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Emilia K BijlsmaDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Claudia RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Eva LausbergInstitut für Humangenetik und Genommedizin, Uniklinik RWTH Aachen, Aachen, Germany.
Miriam ElbrachtInstitut für Humangenetik und Genommedizin, Uniklinik RWTH Aachen, Aachen, Germany.
Maria K HaanpääClinical Genetics Unit, Turku University Hospital, Turku, Finland.
Hannele KoillinenClinical Genetics Unit, Turku University Hospital, Turku, Finland.
Uwe HeinrichZentrum für Humangenetik und Laboratoriumsdiagnostik Dr. Klein Dr. Rost und Kollegen, Martinsried, Germany.
Imma RostZentrum für Humangenetik und Laboratoriumsdiagnostik Dr. Klein Dr. Rost und Kollegen, Martinsried, Germany.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Denny PoppInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Margarete Koch-HogrebeVestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.
Kevin RostasyVestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.
Vanesa López-GonzálezSección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
María José Sanchez-SolerSección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
Catarina MacedoServiço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar e Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisboa, Portugal.
Ariane SchmetzInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Carmen SteinbornMVZ Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany.
Sabine WeidenseeMVZ Mitteldeutscher Praxisverbund Humangenetik, Erfurt, Germany.
Hellen LesmannInstitut für Humangenetik, Universitätsklinikum Bonn, Universität Bonn, Bonn, Germany.
Felix MarbachInstitut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.
Pilar CaroInstitut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.
Christian P SchaafInstitut für Humangenetik, Universitätsklinikum Heidelberg, Universität Heidelberg, Heidelberg, Germany.
Peter KrawitzInstitut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Frank J KaiserInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Alma KuechlerInstitut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
University of Duisburg-Essen · DEUniversity Hospital Heidelberg · DEUniversity of Tübingen · DEHeinrich Heine University Düsseldorf · DELeiden University Medical Center · NLLeipzig University · DEPraxis für Humangenetik · DEUniversitätsklinikum Aachen · DEUniversity of Bonn · DEVestische Caritas-Kliniken · DEZentrum für Pränataldiagnostik · DECentro de Investigación Biomédica en Red · ESHôpital Armand-Trousseau · FRHospital de Santa Maria · PTHospital Universitario Virgen de la Arrixaca · ESTurku University Hospital · FIUniversity Hospital Bonn · DEUniversity of Turku · FI
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of
Indexed as
CHUJANSChung-Jansen syndromeCUL4BDDDIDOD syndromeIDobesityPHIP
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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.