Latest papers

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Comparison of lactase persistence polymorphism in ancient and present-day Hungarian populations. LID - 10.1002/ajpa.21490 [doi]

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Human mineralocorticoid receptor (MR) gene haplotypes modulate MR expression and transactivation: Implication for the stress response

[Resistance of Plasmodium falciparum to antimalarial drugs: impact on malaria pre-elimination in Madagascar].

Patterns of mitochondrial haplotype diversity in the invasive pest Epiphyas postvittana (Lepidoptera: Tortricidae).

Clusters of nucleotide substitutions and insertion/deletion mutations are associated with repeat sequences.

Coding polymorphisms in the genes of the alternative complement pathway and abdominal aortic aneurysm.

[Genetic variability and the origin of house mouse from the territory of Russia and neighboring countries].

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

The kynurenine pathway in major depression: haplotype analysis of three related functional candidate genes.

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

[Genetic structure and subspecies divergence of Lepus capensis in Xinjiang].

Mitochondrial-nuclear epistasis: implications for human aging and longevity.

Evaluation of a fibrillin 2 gene haplotype associated with hip dysplasia and incipient osteoarthritis in dogs.

mtDNA and Y-chromosome diversity in Aymaras and Quechuas from Bolivia: different stories and special genetic traits of the Andean Altiplano populations. LID - 10.1002/ajpa.21487 [doi]

B cell activating factor gene polymorphisms in patients with risk of idiopathic thrombocytopenic purpura.

Population genetic analyses of Plasmodium falciparum chloroquine receptor transporter gene haplotypes reveal the evolutionary history of chloroquine-resistant malaria in India.

Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. LID - 10.1002/ajmg.b.31184 [doi]

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol.