Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways-Reference-Cited by-同舟云学术

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

Published:2019-11-27 Issue:2 Volume:41 Page:512-524
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Duerinckx Sarah¹²^ORCID,Jacquemin Valérie¹,Drunat Séverine³⁴,Vial Yoann³⁴^ORCID,Passemard Sandrine³⁴^ORCID,Perazzolo Camille¹,Massart Annick¹,Soblet Julie²⁵⁶,Racapé Judith⁷,Desmyter Laurence⁵,Badoer Cindy⁵,Papadimitriou Sofia²⁸⁹,Le Borgne Yann‐Aël⁸,Lefort Anne¹,Libert Frédérick¹,De Maertelaer Viviane¹,Rooman Marianne¹⁰,Costagliola Sabine¹,Verloes Alain³⁴,Lenaerts Tom²⁸⁹,Pirson Isabelle¹,Abramowicz Marc¹¹¹^ORCID

Affiliation:

1. Institut de Recherche Interdisciplinaire en Biologie Humaine et MoléculaireUniversité Libre de BruxellesBrussels Belgium

2. Interuniversity Institute of Bioinformatics in BrusselsUniversité Libre de Bruxelles–Vrije Universiteit BrusselBrussels Belgium

3. Department of GeneticsRobert Debré University Hospital, APHPParis France

4. INSERM UMR 1141Université de Paris DiderotParis France

5. Department of Genetics, ULB Center of Human Genetics, Hôpital ErasmeUniversité Libre de BruxellesBrussels Belgium

6. Department of Genetics, ULB Center of Human Genetics, Hôpital Universitaire des Enfants Reine FabiolaUniversité Libre de BruxellesBrussels Belgium

7. Faculty of MedicineUniversité Libre de BruxellesBrussels Belgium

8. Machine Learning GroupUniversité Libre de BruxellesBrussels Belgium

9. Artificial Intelligence LabVrije Universiteit BrusselBrussels Belgium

10. Computational Biology and BioinformaticsUniversité Libre de BruxellesBrussels Belgium

11. Present Address: Department of Genetic Medicine and DevelopmentUniversity of GenevaGeneva Switzerland

Funder

Fonds De La Recherche Scientifique - FNRS

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23948

Reference35 articles.

1. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

2. A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

3. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

4. A framework for variation discovery and genotyping using next-generation DNA sequencing data

5. The genetics of congenitally small brains

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