Lessons learned from the search for genes responsible for rare Mendelian disorders
Author:
Affiliation:
1. McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland 21205
2. Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland 21205
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.233
Reference27 articles.
1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
2. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK
3. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
4. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
5. Exome sequencing identifies a de novo frameshift mutation in the imprinted geneZDBF2in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
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