ArticleFrontiers in pediatrics2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
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In one paragraph
Article in Frontiers in pediatrics, 2020. 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
2.9field-weighted citation impact, top 9% of its field
What it found
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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.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- In Vitro Fertilization and VACTERL Birth Defects.JAMA network open · 2026Article
- Indirect evidence for the volume-outcome relationship for corrective surgery for anorectal malformations using the IQWIG V24-07 rapid report methodology.Pediatric surgery international · 2026Article
- A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.European journal of human genetics : EJHG · 2026Article
- Long-Term Bowel and Urinary Function Outcomes and Quality of Life in Patients with Anorectal Malformations: 20 Years of Experience.Children (Basel, Switzerland) · 2025Article
- Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.Pediatric cardiology · 2025Article
- Trio Exome Sequencing in VACTERL Association.Kidney international reports · 2025Article
- Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.American journal of human genetics · 2024Article
- SALL4 deletion and kidney and cardiac defects associated with VACTERL association.Pediatric nephrology (Berlin, Germany) · 2024Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.Journal of clinical medicine · 2024Article
- Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.Pediatric surgery international · 2023Article
- Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.Molecular medicine reports · 2023Article
- Novel mutation in theWorld journal of clinical cases · 2022Article
- AMolecular medicine reports · 2022Article
- Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Genes · 2021Review
- Review
- Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.PloS one · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 12 institutions in 6 countries.
Romy van de PutteDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Gabriel C DworschakDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, Bonn, Germany.
Erwin BrosensDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.
Heiko M ReutterInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Carlo L M MarcelisDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Rocio Acuna-HidalgoDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Nehir E KurtasDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Marloes SteehouwerDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Sally L DunwoodieVictor Chang Cardiac Research Institute, UNSW Sydney, Sydney, NSW, Australia.
Eberhard SchmiedekeDepartment of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany.
Stefanie MärzheuserDepartment of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.
Nicole SchwarzerSoMA e.V., Self-Help Organization for People With Anorectal Malformation, Munich, Germany.
Alice S BrooksDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.
Annelies de KleinDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.
Cornelius E J SlootsDepartment of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.
Dick TibboelDepartment of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands.
Giulia BrisighelliDepartment of Paediatric Surgery, Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.
Anna MorandiDepartment of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
Maria F BedeschiMedical Genetic Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
Michael D BatesDivision of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.
Marc A LevittDivision of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.
Alberto PeñaDivision of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.
Ivo de BlaauwDepartment of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Nel RoeleveldDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Han G BrunnerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
Iris A L M van RooijDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Alexander HoischenDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Radboud University Medical Center · NLRadboud University Nijmegen · NLErasmus University Rotterdam · NLFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITErasmus MC - Sophia Children’s Hospital · NLRadboud Institute for Molecular Life Sciences · NLUniversity Hospital Bonn · DEWright State University · USCharité - Universitätsmedizin Berlin · DEChildren's Hospital Colorado · USKlinikum Bremen-Mitte · DEUNSW Sydney · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
anorectal malformationsduane-radial ray syndromeesophageal atresiagenetics-firstmolecular inversion probeOpitz-G/BBB syndrometownes-brocks syndrome
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Read underepoch 390
Registered trials
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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.