Biological insights from 108 schizophrenia-associated genetic loci

…, E Söderman, S Thirumalai, D Toncheva… - Nature, 2014 - nature.com
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

…, I Nikolov, N Norton, H Williams, D Toncheva… - Nature, 2009 - nature.com
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …

Ancient human genomes suggest three ancestral populations for present-day Europeans

…, A Salas, EB Starikovskaya, A Tarekegn, D Toncheva… - Nature, 2014 - nature.com
We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old
hunter-gatherers from Luxembourg and Sweden. We analysed these and other …

The Simons genome diversity project: 300 genomes from 142 diverse populations

…, S Karachanak-Yankova, H Sahakyan, D Toncheva… - Nature, 2016 - nature.com
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300
individuals from 142 diverse populations. These genomes include at least 5.8 million base …

[HTML][HTML] De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

…, D Ruderfer, J Moran, K Chambert, D Toncheva… - Molecular …, 2012 - nature.com
A small number of rare, recurrent genomic copy number variants (CNVs) are known to
substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity in …

Etiology of Balkan endemic nephropathy and associated urothelial cancer

V Stefanovic, D Toncheva, S Atanasova… - American journal of …, 2006 - karger.com
… [13] reported a decreased erythrocyte ALA-D activity in patients with BEN and in 32% of their
… The role of variations in LCAT, ALA-D and CYP2D6 activity in the pathogenesis of BEN still …

[HTML][HTML] Genetic structure of Europeans: a view from the North–East

…, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva… - PloS one, 2009 - journals.plos.org
Using principal component (PC) analysis, we studied the genetic constitution of 3,112
individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (…

Global diversity, population stratification, and selection of human copy-number variation

…, S Karachanak-Yankova, D Toncheva, D Comas… - Science, 2015 - science.org
… Both the A/C and B/D duplication architectures exhibit inverted orientations compared
with … (E) Maximum likelihood tree of the 16p12 duplication locus [duplication D in (B) to (D)] …

Complement genes contribute sex-biased vulnerability in diverse disorders

…, E Söderman, S Thirumalai, D Toncheva… - Nature, 2020 - nature.com
Many common illnesses, for reasons that have not been identified, differentially affect men
and women. For instance, the autoimmune diseases systemic lupus erythematosus (SLE) and …

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

…, JP Szatkiewicz, S Thirumalai, D Toncheva… - Nature …, 2016 - nature.com
Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and
function differ, on average, between people with schizophrenia and healthy individuals. As …