A common haplotype in the complement regulatory gene factor H ( <i>HF1/CFH</i> ) predisposes individuals to age-related macular degeneration

Gregory S. Hageman, Don H. Anderson, Lincoln V. Johnson, +24

Proceedings of the National Academy of Sciences

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

Bert Gold, Joanna E. Merriam, Jana Zernant, +11

Nature Genetics

Complement SystemComplement Component 2Ocular DiseaseOphthalmologyGenetics +8

A first-generation linkage disequilibrium map of human chromosome 22

Elisabeth Dawson, Gonçalo R. Abecasis, Suzannah Bumpstead, +25

Nature

ChromatinGeneticsChromosome BiologyMolecular GeneticsChromosomal Rearrangement +3

Extended haplotypes in the complement factor H (<i>CFH</i>) and CFH‐related (<i>CFHR</i>) family of genes protect against age‐related macular degeneration: Characterization, ethnic distribution and evolutionary implications

Gregory S. Hageman, Lisa S. Hancox, Andrew J. Taiber, +14

Annals of Medicine

Genotyping microarray (gene chip) for the<i>ABCR</i>(<i>ABCA4</i>) gene

Kaie Jaakson, Jana Zernant, Maigi Külm, +16

Human Mutation

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

Jana Zernant, Winston Lee, Frederick T. Collison, +6

Journal of Medical Genetics

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Kaoru Fujinami, Jana Zernant, Ravinder Chana, +9

Ophthalmology

Quantitative Fundus Autofluorescence in Recessive Stargardt Disease

Tomas R. Burke, Tobias Duncker, Russell L. Woods, +7

Investigative Ophthalmology & Visual Science

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

Jana Zernant, Maigi Ku ̈lm, Sharola Dharmaraj, +9

Investigative Ophthalmology & Visual Science

Analysis of the<i>ABCA4</i>Gene by Next-Generation Sequencing

Jana Zernant, Carl Schubert, Kate M. Im, +7

Investigative Ophthalmology & Visual Science