ArticleHGG advances2022
First genome-wide association study of esophageal atresia identifies three genetic risk loci at
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Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
5 citing papers in PubMed.
- Does assisted reproductive technology influence the complexity and associated malformations in esophageal atresia?Journal of assisted reproduction and genetics · 2025Article
- Long-term outcome of oesophageal atresia in adolescence (TransEAsome): a national French cohort study protocol.BMJ open · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- The molecular and cellular choreography of early mammalian lung development.Medical review (2021) · 2024Review
- Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.European journal of human genetics : EJHG · 2023Article
Corrections and comments
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Authors and funding
88 authors.
Jan GehlenInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Ann-Sophie GielInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Ricarda KöllgesInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Stephan L HaasDepartment of Upper GI Diseases, Karolinska University Hospital and Unit of Gastroenterology and Rheumatology, Karolinska Institutet, Stockholm, Sweden.
Rong ZhangInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Jiri TrckaDepartment of Paediatric Surgery, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic.
Ayse Ö SungurBehavioural Neuroscience, Experimental and Biological Psychology, University of Marburg, Marburg, Germany.
Florian RenziehausenInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Dorothea BornholdtInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Daphne JungInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Paul D HoyerDepartment of Pediatric Surgery, University Children's Hospital, Marburg, Germany.
Agneta NordenskjöldDepartment of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Dick TibboelDepartment of Pediatric Surgery and Intensive Care, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, the Netherlands.
John VlotDepartment of Pediatric Surgery and Intensive Care, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, the Netherlands.
Manon C W SpaanderDepartment of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, the Netherlands.
Robert SmigielDepartment of Pediatrics, Division of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
Dariusz PatkowskiDepartment of Pediatric Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland.
Nel RoeleveldDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboudumc, Nijmegen, the Netherlands.
Iris Alm van RooijDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboudumc, Nijmegen, the Netherlands.
Ivo de BlaauwDepartment of Surgery, Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands.
Alice HölscherDepartment of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany.
Marcus PaulyDepartment of Pediatric Surgery, Asklepios Children's Hospital St. Augustin, St. Augustin, Germany.
Andreas LeutnerDepartment of Pediatric Surgery, Medical Center Dortmund, Dortmund, Germany.
Joerg FuchsDepartment of Pediatric Surgery Children's Hospital, University of Tübingen, Tübingen, Germany.
Joel NiethammerDepartment of Pediatric Surgery Children's Hospital, University of Tübingen, Tübingen, Germany.
Maria-Theodora MelissariInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, University of Frankfurt, Frankfurt am Main, Germany.
Ekkehart JenetzkySchool of Medicine, Faculty of Health, University of Witten/Herdecke, Witten, Germany.
Nadine ZwinkDepartment of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Holger ThieleCologne Center for Genomics, University of Cologne, Cologne, Germany.
Alina Christine HilgerInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Timo HessInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Jessica TrautmannInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Matthias MarksClinic for Neurology, Section Neurobiological Research, RWTH Aachen University Clinic, Aachen, Germany.
Martin BaumgartenInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Gaby BlässDepartment of Developmental Genetics, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
Mikael LandénDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Bengt FundinDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Cynthia M BulikDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Tracie PennimpedeDepartment of Developmental Genetics, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
Michael LudwigDepartment of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Susanne MoebusInstitute of Urban Public Health, University Hospital of Essen, University Duisburg-Essen, Essen, Germany.
Bernhard G HerrmannDepartment of Developmental Genetics, Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
Kristina AlsabeahDepartment of Upper GI Diseases, Karolinska University Hospital and Unit of Gastroenterology and Rheumatology, Karolinska Institutet, Stockholm, Sweden.
Carmen M BurgosDepartment of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Helene E LiljaDepartment of Women's and Children's Health, Section of Pediatric Surgery, Uppsala University, Uppsala, Sweden.
Sahar AzodiPerioperative Medicine and Intensive Care, Karolinska University, Stockholm, Sweden.
Pernilla StenströmDepartment of Pediatric Surgery, Skåne University Hospital, Lund, Sweden.
Einar ArnbjörnssonDepartment of Pediatric Surgery, Skåne University Hospital, Lund, Sweden.
Barbora FrybovaDepartment of Paediatric Surgery, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic.
Dariusz M LebensztejnDepartment of Pediatrics, Gastroenterology, Hepatology, Nutrition and Allergology, Medical University of Bialystok, Bialystok, Poland.
Wojciech DebekDepartment of Pediatric Surgery and Urology, Medical University of Bialystok, Poland.
Elwira KolodziejczykDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Katarzyna KozeraDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Jaroslaw KierkusDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Piotr KalicińskiGastroenterology, Allergology and Pediatric Department, Polish-Mother's Memorial Hospital. Research Institute, Lodz, Poland.
Marek StefanowiczGastroenterology, Allergology and Pediatric Department, Polish-Mother's Memorial Hospital. Research Institute, Lodz, Poland.
Anna Socha-BanasiakGastroenterology, Allergology and Pediatric Department, Polish-Mother's Memorial Hospital. Research Institute, Lodz, Poland.
Michal KolejwaGastroenterology, Allergology and Pediatric Department, Polish-Mother's Memorial Hospital. Research Institute, Lodz, Poland.
Anna Piaseczna-PiotrowskaDepartment of Pediatric Surgery, Urology and Transplantology, The Children's Memorial Health Institute, Warsaw, Poland.
Elzbieta CzkwianiancGastroenterology, Allergology and Pediatric Department, Polish-Mother's Memorial Hospital. Research Institute, Lodz, Poland.
Markus M NöthenInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Phillip GroteInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, University of Frankfurt, Frankfurt am Main, Germany.
Michal RyglDepartment of Paediatric Surgery, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic.
Konrad ReinshagenDepartment of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Nicole SpychalskiDepartment of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany.
Barbara LudwikowskiDepartment of Pediatric Surgery and Pediatric Urology, Medical Center for Children and Adolescents 8AUF DER BULT, Hannover, Germany.
Jochen HubertusDepartment of Pediatric Surgery, Marien Hospital Witten, Ruhr-University Bochum, Germany.
Andreas HeydweillerDepartment of Pediatric Surgery, University Hospital Bonn, Bonn, Germany.
Benno UreCenter of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany.
Oliver J MuenstererDepartment of Pediatric Surgery, University Medicine Mainz, Mainz, Germany.
Ophelia AubertDepartment of Pediatric Surgery, University of Leipzig, Leipzig, Germany.
Jan-Hendrik GosemannDepartment of Pediatric Surgery, University of Leipzig, Leipzig, Germany.
Martin LacherDepartment of Pediatric Surgery, University of Leipzig, Leipzig, Germany.
Petra DegenhardtDepartment of Pediatric Surgery, Ernst von Bergmann Hospital, Potsdam, Germany.
Thomas M BoemersDepartment of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany.
Anna MokrowieckaDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Ewa Małecka-PanasDepartment of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland.
Markus WöhrBehavioural Neuroscience, Experimental and Biological Psychology, University of Marburg, Marburg, Germany.
Michael KnappInstitute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany.
Guido SeitzDepartment of Pediatric Surgery, University Children's Hospital, Marburg, Germany.
Annelies de KleinDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.
Grzegorz OraczDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Erwin BrosensDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.
Heiko ReutterInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Johannes SchumacherInstitute of Human Genetics, University Hospital of Marburg, Marburg, Germany.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene
Indexed as
CTNNA3esophageal atresia (EA)FOXF1/FOXC2/FOXL1genome-wide association study (GWAS)HNF1Bmultifactorial diseases
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