Missense <scp> <i>MED12</i> </scp> variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes-Reference-Cited by-同舟云学术

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Published:2022-10-22 Issue:1 Volume:191 Page:135-143
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Maia Nuno¹^ORCID,Ibarluzea Nekane²,Misra‐Isrie Mala³,Koboldt Daniel C.⁴⁵,Marques Isabel¹,Soares Gabriela⁶,Santos Rosário¹,Marcelis Carlo L. M.⁷,Keski‐Filppula Riikka⁸,Guitart Miriam⁹,Gabau Vila Elisabeth⁹,Lehman April⁵¹⁰,Hickey Scott⁵¹⁰,Mori Mari¹⁰¹¹^ORCID,Terhal Paulien¹²^ORCID,Valenzuela Irene¹³^ORCID,Lasa‐Aranzasti Amaia¹³,Cueto‐González Anna Maria¹³,Chhouk Brian H.¹⁴,Yeh Rebecca C.¹⁴,Neil Jennifer E.¹⁴,Abu‐Libde Bassam¹⁵,Kleefstra Tjitske⁷,Elting Mariet W.³,Császár Andrea¹⁶,Kárteszi Judit¹⁷,Bessenyei Beáta¹⁸,van Bokhoven Hans⁷^ORCID,Jorge Paula¹,van Hagen Johanna M.³,de Brouwer Arjan P. M.⁷^ORCID

Affiliation:

1. Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR ‐ Laboratory for Integrative and Translational Research in Population Health University of Porto Porto Portugal

2. Biocruces Bizkaia Health Research Institute Barakaldo Spain

3. Department of Human Genetics, Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands

4. Steve and Cindy Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

5. Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA

6. Unidade de Genética Médica Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Porto Portugal

7. Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center Nijmegen The Netherlands

8. Department of Clinical Genetics Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu Oulu Finland

9. Paediatric Unit ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona Sabadell Spain

10. Division of Genetic & Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

11. Nationwide Children's Hospital Columbus Ohio USA

12. Division Laboratories, Pharmacy and Biomedical Genetics Wilhelmina Children's Hospital Utrecht The Netherlands

13. Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute Barcelona Spain

14. Division of Genetics and Genomics and Howard Hughes Medical Institute Boston Children's Hospital Boston Massachusetts USA

15. Makassed Hospital Jerusalem Israel

16. Paediatric Ward Hospital of Zala County Zalaegerszeg Hungary

17. Genetic Counselling Hospital of Zala County Zalaegerszeg Hungary

18. Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine University of Debrecen Debrecen Hungary

Funder

Broad Institute

National Eye Institute

National Human Genome Research Institute

Publisher

Wiley

Subject