Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
Ionita-Laza I et al.
Plos Genetics, 2014
Haplotype-based methods for detecting uncommon causal variants with common SNPs.
Lin WY et al.
Genetic Epidemiology, 2012
An evolutionary framework for association testing in resequencing studies.
King CR et al.
Plos Genetics, 2010
Phylogenetics applied to genotype/phenotype association and selection analyses with sequence data from angptl4 in humans.
Maxwell TJ et al.
International Journal of Molecular Sciences, 2010
Associations between common genetic polymorphisms in angiopoietin-like proteins 3 and 4 and lipid metabolism and adiposity in European adolescents and adults.
Legry V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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