Exome sequencing in syndromic brain malformations identifies novel mutations inACTB, andSLC9A6, and suggestsBAZ1Aas a new candidate gene-Reference-Cited by-同舟云学术

Exome sequencing in syndromic brain malformations identifies novel mutations inACTB, andSLC9A6, and suggestsBAZ1Aas a new candidate gene

Published:2018-02-01 Issue:7 Volume:110 Page:587-597
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Weitensteiner Valerie¹,Zhang Rong¹²,Bungenberg Julia³,Marks Matthias⁴,Gehlen Jan¹²,Ralser Damian J.¹,Hilger Alina C.¹⁵,Sharma Amit⁶,Schumacher Johannes¹²,Gembruch Ulrich⁷,Merz Waltraut M.⁷,Becker Albert³,Altmüller Janine⁸⁹,Thiele Holger⁸,Herrmann Bernhard G.⁴,Odermatt Benjamin¹⁰,Ludwig Michael¹¹,Reutter Heiko¹²¹²^ORCID

Affiliation:

1. Institute of Human Genetics, University of Bonn School of Medicine and University Hospital of Bonn; Bonn Germany

2. Department of Genomics-Life & Brain Center; Bonn Germany

3. Department of Neuropathology; University of Bonn; Bonn Germany

4. Department of Developmental Genetics; Max-Planck-Institute for Molecular Genetics; Berlin Germany

5. Department of Pediatrics; University of Bonn; Bonn Germany

6. Department of Neurology; University Clinic Bonn; Bonn Germany

7. Department of Obstetrics and Prenatal Medicine; University of Bonn; Bonn Germany

8. Cologne Center for Genomics, University of Cologne; Cologne Germany

9. Center for Molecular Medicine Cologne, University of Cologne; Cologne Germany

10. Institute of Anatomy, University of Bonn; Bonn Germany

11. Department of Clinical Chemistry and Clinical Pharmacology; University of Bonn; Bonn Germany

12. Department of Neonatology and Pediatric Intensive Care; Children's Hospital, University of Bonn; Bonn Germany

Funder

BONFOR

Else Kröner-Fresenius-Stiftung

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

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