<i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies
Our human genetic data and analysis of Tfap2e manipulation in zebrafish indicate a potential role of <i>TFAP2E</i> in human CNS, orofacial and maxillofacial anomalies.
Authors
- Jennifer E. Posey (ORCID: https://orcid.org/0000-0003-4814-6765)
- Albert J. Becker (ORCID: https://orcid.org/0000-0003-2661-3705)
- Waltraut M. Merz (ORCID: https://orcid.org/0000-0003-2356-0118)
- Britta Eiberger
- Jil D. Stegmann (ORCID: https://orcid.org/0000-0002-1287-0308)
- Enrico Mingardo (ORCID: https://orcid.org/0000-0002-2562-0615)
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Gabriel C. Dworschak (ORCID: https://orcid.org/0000-0003-0015-6964)
- Juan Eduardo Rodriguez-Gatica (ORCID: https://orcid.org/0000-0003-4123-0104)
- Alina C. Hilger (ORCID: https://orcid.org/0000-0002-0354-7584)
- Tobias Lindenberg
- Maria Lisa Dentici (ORCID: https://orcid.org/0000-0002-9505-5906)
- Leah Fleming (ORCID: https://orcid.org/0000-0002-6742-7223)
- Audrey C. Woerner
- Stephanie A. Coury
- Clara Vidic
- Jessica Sebastian
- Sara Loddo (ORCID: https://orcid.org/0000-0002-8837-3519)
- Andrea Christ
- Jill Anne Rosenfeld (ORCID: https://orcid.org/0000-0001-5664-7987)
- Wen‐Hann Tan (ORCID: https://orcid.org/0000-0002-1593-6149)
- Behnaz Pezeshkpoor (ORCID: https://orcid.org/0000-0002-4796-3424)
- Felix Häberlein
- Lea Waffenschmidt
- Jeshurun C. Kalanithy (ORCID: https://orcid.org/0009-0001-4527-3999)
- Patrick Arthur Kupczyk (ORCID: https://orcid.org/0000-0001-9556-085X)
- Olivier Vanakker (ORCID: https://orcid.org/0000-0003-4491-0332)
- Tikam Chand Dakal (ORCID: https://orcid.org/0000-0002-9248-7391)
- Nina Ishorst (ORCID: https://orcid.org/0000-0001-9836-554X)
- Benjamin Odermatt (ORCID: https://orcid.org/0000-0002-9361-2772)
- Heiko Reutter (ORCID: https://orcid.org/0000-0002-3591-5265)
- Holger Thiele (ORCID: https://orcid.org/0000-0003-4495-4597)
- Öznur Yılmaz (ORCID: https://orcid.org/0000-0002-0855-9541)
- Ramgopal Dhakar (ORCID: https://orcid.org/0009-0000-6578-1336)
- Selina Hölzel (ORCID: https://orcid.org/0009-0004-0128-6263)
- Khadija Channab
- Paul A. Levy
- James R. Lupski
- Bimaljeet K Babra
Institutions
- Boston Children's Hospital (US)
- Saint Luke's Health System (US)
- University of Bonn (DE)
- University of Cologne (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Baylor College of Medicine (US)
- University Hospital Bonn (DE)
- Ghent University Hospital (BE)
- Universitätsklinikum Erlangen (DE)
- Bambino Gesù Children's Hospital (IT)
- Children's Hospital of Pittsburgh (US)
- Children's Hospital at Montefiore (US)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
- Mohanlal Sukhadia University (IN)
- Mass General Brigham (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-12-23
- DOI
- https://doi.org/10.1136/jmg-2023-109799
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Muscular Dystrophy Association
- Johns Hopkins University
- Deutsche Forschungsgemeinschaft
- Else Kröner-Fresenius-Stiftung
- Eva Luise und Horst Köhler Stiftung
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- National Human Genome Research Institute