-
41
Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores
Published 2020-06-01“…Often, applications report results from single-nucleotide polymorphisms (SNPs) and disregard effect size, which is highly inappropriate for common, complex disorders where everybody carries risk variants. …”
Get full text
Article -
42
Massive withdrawal symptoms and affective vulnerability are associated with variants of the CHRNA4 gene in a subgroup of smokers.
Published 2014-01-01“…Heterogeneous phenotypes of complex disorders pose a great challenge for genetic association studies and for the development of personalized treatment strategies. …”
Get full text
Article -
43
Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.
Published 2017-01-01“…Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. …”
Get full text
Article -
44
Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications
Published 2008-04-01“…</p> <p>Conclusion</p> <p>Our findings support the possibility that recent bottleneck events leading to over-representation of minor mtDNA alleles in specific genetic isolates, could result in population-specific susceptibility loci to complex disorders.</p>…”
Get full text
Article -
45
Cellular and molecular mechanisms of chronic kidney disease with diabetes mellitus and cardiovascular diseases as its comorbidities
Published 2015-07-01“…Chronic kidney disease (CKD), diabetes mellitus (DM) and cardiovascular diseases (CVD) are complex disorders of partly unknown genesis and mostly known progression factors. …”
Get full text
Article -
46
-
47
The relationship between insomnia and complex diseases—insights from genetic data
Published 2019-08-01“…Large genetic studies have provided insights into the etiology of insomnia, highlighting biological pathways that are shared with other complex disorders. Increased focus on treating sleep problems in the clinic and through public health interventions may reduce the overall burden of disease in human populations.…”
Get full text
Article -
48
Thematic review series: Systems Biology Approaches to Metabolic and Cardiovascular Disorders. Multi-organ whole-genome measurements and reverse engineering to uncover gene networks...
Published 2007-02-01“…We also address how gene networks will probably play a key role in the development of early diagnostics and treatments for complex disorders in the coming era of individualized medicine.…”
Get full text
Article -
49
The role of the clinical nurse specialist in haemoglobinopathies
Published 2018-04-01“…Haemoglobinopathies are complex disorders that require specialist knowledge to deliver the very best care. …”
Get full text
Article -
50
Gastroparesis in a Patient with Gastric AL Amyloidosis
Published 2018-06-01“…Systemic amyloidosis is a group of complex disorders characterized by the extracellular deposition of nonbranching fibrils in various tissues, ultimately leading to a variety of clinical presentations including isolated or multiorgan dysfunction. …”
Get full text
Article -
51
Fine-Mapping of the Human Blood Plasma N-Glycome onto Its Proteome
Published 2019-06-01“…Our study reveals a detailed picture of protein N-glycosylation and suggests new avenues for the investigation of its role and function in the associated complex disorders.…”
Get full text
Article -
52
Treating lysosomal storage disorders: current practice and future prospects.
Published 2009“…The greatest current challenge is in developing effective therapies for treating the CNS manifestations of these complex disorders. In this article, we will review the current therapies/approaches being considered for treating lysosomal storage diseases and give a perspective on the scientific, medical, social and ethical issues they raise.…”
Journal article -
53
Insights into the genetic risk factors for the development of pancreatic disease
Published 2017-03-01“…The failure of traditional approaches to identify primary mechanisms underlying these progressive disorders illustrates a greater problem of failure of the germ theory of disease for complex disorders. Multiple genetic discoveries and new complex disease models force consideration of a new paradigm of ‘precision medicine’, requiring a new mechanistic definition of CP. …”
Get full text
Article -
54
The Impact of Darwinian Evolution on Medicine: The Maternal Side of the Story
Published 2010-07-01“…Complex disorders are common in the human population and are caused by interplay between genetic and environmental factors. …”
Get full text
Article -
55
Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation
Published 2023-11-01“…Abstract Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. …”
Get full text
Article -
56
Solving the puzzle of neurological diseases: an interview with Huda Zoghbi
Published 2017-05-01“…As highlighted in this interview, her work is now paying dividends by starting to reveal potential therapeutic targets for these intractable and complex disorders.…”
Get full text
Article -
57
Clinical Interpretation of Genomic Variations
Published 2016-08-01“…Novel high-throughput sequencing technologies generate largescale genomic data and are used extensively for disease mapping of monogenic and/or complex disorders, personalized treatment, and pharmacogenomics. …”
Get full text
Article -
58
The New Specialties of Orofacial Pain and Oral Medicine: Practical Strategies to Improve Access to Care for Orofacial Disorders
Published 2024-12-01“…ABSTRACTOrofacial disorders are common and complex disorders with an estimated collective prevalence of over 40% of the general population. …”
Get full text
Article -
59
Testing genetic association by regressing genotype over multiple phenotypes.
Published 2014-01-01“…Complex disorders are typically characterized by multiple phenotypes. …”
Get full text
Article -
60
Molecular basis for phenotypic similarity of genetic disorders
Published 2019-04-01“…This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.…”
Get full text
Article