AUTS2-related syndrome: Insights from a large European cohort

This study provides a comprehensive clinical characterization of AUTS2-related syndrome, reveals few genotype-phenotype correlations, and suggests that the disruption of the 2 distinct AUTS2 transcripts has a different impact on the clinical phenotype.

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Publication Details

Journal
Genetics in Medicine
Published
2025-02-12
DOI
https://doi.org/10.1016/j.gim.2025.101375
Citations
3
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
2.42

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AUTS2-related syndrome: Insights from a large European cohort

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3 citations
Genetics in Medicine
Congenital heart defects research
2.42
article

AUTS2-related syndrome: Insights from a large European cohort

Larissa Mattern, Lucas Hérissant, Eva Lausberg, Dora Varvara, Mirosław Kwaśniewski, Bruno Dallapiccola, Jonathan Lévy, Salvatore Grosso, Maria Cristina Digilio, E. Antolini, Irene Valenzuela, Karin Dahan, Maria Antonietta Mencarelli, Martin Zenker, Livia Garavelli, Urszula Korotko, Lorenzo Sinibaldi, Roberto Canitano, Lorenzo Loberti, Maria Lisa Dentici, Valentin Ruault, Christophe Philippe, Mieke M. van Haelst, Aleksandra Jezela‐Stanek, Anna Maria Pinto, Benedetta Toschi, Ilaria Longo, Margherita Baldassarri, Gea Beunders, Loredaria Adamo, Rossella Capolino, Anne Destrèe, Christine Coubes, Gianluca Piatelli, Mariëlle Alders, Anne‐Claude Tabet, Lisette Leeuwen, Rossella Tita, Dominique Braun, Rita Genesio, Orsetta Zuffardi, Roseline Caumes, Giulia Casamassima, Cordula Knopp, Stefano Giuseppe Caraffi, Anna Möllring, Jasmin Lisfeld, Liselot van der Laan, Alessandra Renieri, Daniel Stieber, Arthur Sorlin, Hilde Van Esch, Jiddeke M. van de Kamp, Mirella Bruttini, Nicola Brunetti‐Pierri, Valentina S. Caputo, David Geneviève, Elisa Rahikkala, Andrea Maier, Laurence Perrin, Theresia Herget, Alexander J. Groffen, Salvatore Di Mauro, Mariet W. Elting, Anna Maruani, Miriam Elbracht, Harald Gaspar, Antonio Novelli, Fanny Kortüm, Karolina Chwiałkowska, Marco Tartaglia, Francesca De Razza, Ewelina Gorzałczyńska, Marjoleine F Broekema, Johanna Kick
article en
3 citations

Abstract

This study provides a comprehensive clinical characterization of AUTS2-related syndrome, reveals few genotype-phenotype correlations, and suggests that the disruption of the 2 distinct AUTS2 transcripts has a different impact on the clinical phenotype.

Genetics in MedicineVol. 27(6)
University of Siena (IT), University of Pisa (IT), University of Bern (CH), Hebron University (PS), University Medical Center Groningen (NL), Medical University of Białystok (PL), Inserm (FR), Universität Hamburg (DE), Université de Bourgogne (FR), Université de Montpellier (FR), University of Pavia (IT), Oulu University Hospital (FI), University Hospital of Bern (CH), Istituto Giannina Gaslini (IT), Centre Hospitalier Universitaire de Lille (FR), Azienda Sanitaria Unità Locale di Reggio Emilia (IT), Centre Hospitalier Universitaire de Montpellier (FR), Assistance Publique – Hôpitaux de Paris (FR), Institute of Pathology and Genetics (BE), University Medical Center Hamburg-Eppendorf (DE), Siena Biotech (Italy) (IT), Presidio Ospedaliero (IT), Bambino Gesù Children's Hospital (IT), Hôpital Robert-Debré (FR), Azienda Ospedaliera Universitaria Senese (IT), Laboratoire National de Santé (LU), Hôpital Arnaud de Villeneuve (FR), Scuola Superiore Meridionale (IT), Amsterdam University Medical Centers (NL), Telethon Institute Of Genetics And Medicine (IT), Ospedale Vito Fazzi (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Azienda Ospedaliera Universitaria Pisana (IT), University of Naples Federico II (IT), University of Amsterdam (NL), RWTH Aachen University (DE), Otto-von-Guericke-Universität Magdeburg (DE)
Ministero della Salute
Openalex Percentile: Top 13%
Congenital heart defects research
2.42
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