De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes-Reference-Cited by-同舟云学术

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Published:2022-06-08 Issue:9 Volume:43 Page:1299-1313
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Scala Marcello¹²^ORCID,Drouot Nathalie³⁴⁵⁶,MacLennan Suzanna C.⁷^ORCID,Wessels Marja W.⁸,Krygier Magdalena⁹^ORCID,Pavinato Lisa¹⁰¹¹^ORCID,Telegrafi Aida¹²,de Man Stella A.¹³^ORCID,van Slegtenhorst Marjon⁸,Iacomino Michele¹⁴,Madia Francesca¹⁴,Scudieri Paolo¹¹⁴,Uva Paolo¹⁵^ORCID,Giacomini Thea¹⁶,Nobile Giulia¹⁶^ORCID,Mancardi Maria Margherita¹⁶^ORCID,Balagura Ganna¹²,Galloni Giovanni Battista¹⁷,Verrotti Alberto¹⁸,Umair Muhammad¹⁹²⁰,Khan Amjad²¹,Liebelt Jan²²,Schmidts Miriam²³^ORCID,Langer Thorsten²⁴,Brusco Alfredo¹⁰²⁵^ORCID,Lipska‐Ziętkiewicz Beata S.²⁶²⁷,Saris Jasper J.⁸^ORCID,Charlet‐Berguerand Nicolas³⁴⁵⁶^ORCID,Zara Federico¹¹⁴,Striano Pasquale¹²,Piton Amélie³⁴⁵⁶²⁸^ORCID

Affiliation:

1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy

2. Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy

3. Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch France

4. Centre National de la Recherche Scientifique, UMR7104 Illkirch France

5. Institut National de la Santé et de la Recherche Médicale, U964 Illkirch France

6. Université de Strasbourg Illkirch France

7. Department of Paediatric Neurology Women's and Children's Hospital Adelaide South Australia Australia

8. Department of Clinical Genetics Erasmus Medical Centre Rotterdam The Netherlands

9. Department of Developmental Neurology Medical University of Gdańsk Gdańsk Poland

10. Department of Medical Sciences University of Turin Turin Italy

11. Center for Molecular Medicine Cologne, Institute of Human Genetics University of Cologne Cologne Germany

12. Clinical Genomics Program, GeneDx Gaithersburg Maryland USA

13. Department of Pediatrics Amphia Hospital Breda The Netherlands

14. Unit of Medical Genetics IRCCS Giannina Gaslini Institute Genoa Italy

15. Clinical Bioinformatics Unit IRCCS Istituto Giannina Gaslini Genoa Italy

16. Unit of Child Neuropsychiatry IRCCS Istituto Giannina Gaslini Genoa Italy

17. Struttura Complessa Neuropsichiatria Infantile Sud Azienda Sanitaria Locale Città di Torino Torino Italy

18. Department of Pediatrics University of Perugia Perugia Italy

19. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard Health Affairs Riyadh Saudi Arabia

20. Department of Life Sciences, School of Science University of Management and Technology (UMT) Lahore Pakistan

21. Faculty of Biological Science, Department of Zoology University of Lakki Marwat Lakki Marwat Pakistan

22. South Australian Clinical Genetics Service Women's and Children's Hospital Adelaide South Australia Australia

23. Department of General Pediatrics and Adolescent Medicine, Medical Center and Faculty of Medicine University of Freiburg Freiburg Germany

24. Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, Faculty of Medicine University of Freiburg Freiburg Germany

25. Unit of Medical Genetics “Città della Salute e della Scienza” University Hospital Turin Italy

26. Clinical Genetics Unit, Department of Biology and Medical Genetics Medical University of Gdańsk Gdańsk Poland

27. Centre for Rare Diseases Medical University of Gdańsk Gdańsk Poland

28. Laboratory of Genetic Diagnostic Hôpitaux Universitaires de Strasbourg Strasbourg France

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24414

Reference57 articles.

1. A method and server for predicting damaging missense mutations

2. Dysregulation of RNA Splicing in Tauopathies

3. A Human-Specific Schizophrenia Risk Tandem Repeat Affects Alternative Splicing of a Human-Unique Isoform AS3MTd2d3 and Mushroom Dendritic Spine Density

4. Distribution and intensity of constraint in mammalian genomic sequence

5. Combined Annotation Dependent Depletion (CADD):http://cadd.gs.washington.edu

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