A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

• Tanja Mederer ,

  Contributed equally to this work with: Tanja Mederer, Stefanie Schmitteckert, Philipp Romero, Beate Niesler

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany

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• Stefanie Schmitteckert ,

  Contributed equally to this work with: Tanja Mederer, Stefanie Schmitteckert, Philipp Romero, Beate Niesler

  Roles Conceptualization, Formal analysis, Methodology, Project administration, Supervision, Writing – review & editing

  Affiliation Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany

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• Julia Volz,

  Roles Formal analysis, Investigation

  Affiliation Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany

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• Cristina Martínez,

  Roles Conceptualization, Writing – review & editing

  Affiliations Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany, Lleida Institute for Biomedical Research Dr. Pifarré Foundation (IRBLleida), Lleida, Spain

  https://orcid.org/0000-0002-9368-1356

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• Ralph Röth,

  Roles Resources, Writing – review & editing

  Affiliations Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany, nCounter Core Facility, Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany

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• Thomas Thumberger,

  Roles Conceptualization, Writing – review & editing

  Affiliation Centre for Organismal Studies, Heidelberg University, Heidelberg, Germany

  https://orcid.org/0000-0001-8485-457X

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• Volker Eckstein,

  Roles Resources

  Affiliation FACS Core Facility, Campus Heidelberg, Germany

  https://orcid.org/0000-0002-2581-9608

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• Jutta Scheuerer,

  Roles Resources

  Affiliation Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany

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• Cornelia Thöni,

  Roles Investigation, Resources

  Affiliation Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany

  https://orcid.org/0000-0002-7860-8724

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• Felix Lasitschka,

  Roles Resources, Writing – review & editing

  Affiliation Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany

  https://orcid.org/0000-0002-3212-1881

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• Leonie Carstensen,

  Roles Data curation, Resources

  Affiliation Pediatric Surgery Division, Heidelberg University Hospital, Heidelberg, Germany

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• Patrick Günther,

  Roles Resources, Writing – review & editing

  Affiliation Pediatric Surgery Division, Heidelberg University Hospital, Heidelberg, Germany

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• Stefan Holland-Cunz,

  Roles Resources, Writing – review & editing

  Affiliation Pediatric Surgery, University Children's Hospital, Basel, Switzerland

  https://orcid.org/0000-0003-1358-3439

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• Robert Hofstra,

  Roles Resources, Writing – review & editing

  Affiliation Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands

  https://orcid.org/0000-0001-7498-3829

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• Erwin Brosens,

  Roles Resources, Writing – review & editing

  Affiliation Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands

  https://orcid.org/0000-0001-8235-4010

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• Jill A. Rosenfeld,

  Roles Resources, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Baylor Genetics Laboratories, Houston, Texas, United States of America

  https://orcid.org/0000-0001-5664-7987

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• Christian P. Schaaf,

  Roles Resources, Writing – review & editing

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Baylor Genetics Laboratories, Houston, Texas, United States of America, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany

  https://orcid.org/0000-0002-2148-7490

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• Duco Schriemer,

  Roles Resources, Writing – review & editing

  Affiliation Department of Neuroscience, University Medical Center, Groningen, The Netherlands

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• Isabella Ceccherini,

  Roles Resources, Writing – review & editing

  Affiliation UOSD Genetica e Genomica delle Malattie Rare, IRCCS, Instituto Giannina Gaslini, Genova, Italy

  https://orcid.org/0000-0001-8732-1955

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• Marta Rusmini,

  Roles Resources, Writing – review & editing

  Affiliation UOSD Genetica e Genomica delle Malattie Rare, IRCCS, Instituto Giannina Gaslini, Genova, Italy

  https://orcid.org/0000-0002-3109-413X

  ⨯
• Joseph Tilghman,

  Roles Resources, Writing – review & editing

  Affiliation Center for Human Genetics and Genomics, New York University School of Medicine, United States of America

  https://orcid.org/0000-0001-7471-0468

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• Berta Luzón-Toro,

  Roles Resources, Writing – review & editing

  Affiliations Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain

  ⨯
• Ana Torroglosa,

  Roles Resources, Writing – review & editing

  Affiliations Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain

  ⨯
• Salud Borrego,

  Roles Resources, Writing – review & editing

  Affiliations Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain

  https://orcid.org/0000-0002-2513-6161

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• Clara Sze-man Tang,

  Roles Resources, Writing – review & editing

  Affiliation Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China

  https://orcid.org/0000-0003-0265-2638

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• Mercè Garcia-Barceló,

  Roles Resources, Writing – review & editing

  Affiliation Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China

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• Paul Tam,

  Roles Resources, Writing – review & editing

  Affiliation Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China

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• Nagarajan Paramasivam,

  Roles Formal analysis, Investigation, Resources, Writing – review & editing

  Affiliation Division of Theoretical Bioinformatics, German Cancer Research Center, Heidelberg, Germany

  https://orcid.org/0000-0002-7126-8472

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• Melanie Bewerunge-Hudler,

  Roles Resources

  Affiliation Genomics and Proteomic Core Facility, German Cancer Research Center, Heidelberg, Germany

  https://orcid.org/0000-0001-9038-7891

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• Carolina De La Torre,

  Roles Resources

  Affiliation Center of Medical Research, Medical Faculty Mannheim, Mannheim, Germany

  https://orcid.org/0000-0001-8918-2266

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• Norbert Gretz,

  Roles Resources, Writing – review & editing

  Affiliation Center of Medical Research, Medical Faculty Mannheim, Mannheim, Germany

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• Gudrun A. Rappold,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliations Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany, Interdisciplinary Center for Neurosciences, University of Heidelberg, Heidelberg, Germany

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• Philipp Romero ,

  Contributed equally to this work with: Tanja Mederer, Stefanie Schmitteckert, Philipp Romero, Beate Niesler

  Roles Data curation, Funding acquisition, Resources, Writing – review & editing

  Affiliation Pediatric Surgery Division, Heidelberg University Hospital, Heidelberg, Germany

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•  [ ... ],
• Beate Niesler

  Contributed equally to this work with: Tanja Mederer, Stefanie Schmitteckert, Philipp Romero, Beate Niesler

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: beate.niesler@med.uni-heidelberg.de

  Affiliations Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany, nCounter Core Facility, Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany, Interdisciplinary Center for Neurosciences, University of Heidelberg, Heidelberg, Germany

  https://orcid.org/0000-0001-7881-6112

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