Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework-Reference-Cited by-同舟云学术

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Published:2018-10-11 Issue:11 Volume:39 Page:1485-1493
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Grant Andrew R.¹^ORCID,Cushman Brandon J.¹,Cavé Hélène²,Dillon Mitchell W.³,Gelb Bruce D.⁴,Gripp Karen W.⁵,Lee Jennifer A.⁶,Mason‐Suares Heather¹,Rauen Katherine A.⁷,Tartaglia Marco⁸,Vincent Lisa M.⁹,Zenker Martin¹⁰

Affiliation:

1. Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts

2. Département de GénétiqueHôpital Robert Debré and Institut Universitaire d'HématologieUniversité Paris Diderot Paris‐Sorbonne‐Cité Paris France

3. Molecular Genetic Testing LaboratoryIcahn School of Medicine at Mount Sinai New York City New York

4. Departments of Pediatrics and Genetic and Genomic SciencesMindich Child Health and Development InstituteIcahn School of Medicine at Mount Sinai New York City New York

5. Department of PediatricsNemours/Alfred I. duPont Hospital for Children Wilmington Delaware

6. Molecular Diagnostic LaboratoryGreenwood Genetic Center Greenwood South Carolina

7. Department of PediatricsUC Davis Children's Hospital Sacramento California

8. Ospedale Pediatrico Bambino Gesù Rome Italy

9. GeneDx Gaithersburg Maryland

10. Institute of Human GeneticsUniversity Hospital Magdeburg Magdeburg Germany

Funder

National Human Genome Research Institute

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject