Concepedia

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao,

Human Genetics · 2013 · 242 citations · 44 references

DOI

Concepts

References

44

Primer3 on the WWW for General Users and for Biologist Programmers

Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations

, , +7

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

, , +17

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

, , +15

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

, , +9

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle · Human Mutation · 2011 · 860 citations · Full text

, , +17