Associated Papers
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA et al.
Human Molecular Genetics, 2022
35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Siggs OM et al.
Clinical Genetics, 2020
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Grassmann F et al.
Genome Medicine, 2017
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.
Li J et al.
Investigative Ophthalmology & Visual Science, 2015
25587058 (PubMed )
Supplement: iovs-14-14880-s05.xls › Sheet1
Select a paper to view details