Associated Papers
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.
Unknown Author
Nature Genetics, 2016
Rare and low-frequency variants in human common diseases and other complex traits.
Lettre G
Journal of Medical Genetics, 2014
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Auer PL et al.
Nature Genetics, 2014
Select a paper to view details