Genetics of complex diseases

Browse key articles nominated by our Editors

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

from Journal of Inherited Metabolic Disease

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Altered DNA methylation in liver and adipose tissues derived from individuals with obesity and type 2 diabetes

from BMC Medical Genetics

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Combinations of chromosome transfer and genome editing for the development of cell/animal models of human disease and humanized animal models

from Journal of Human Genetics

 

Dietary adaptation of FADS genes in Europe varied across time and geography

from Nature Ecology & Evolution

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DNA replication stress: from molecular mechanisms to human disease

from Chromosoma

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Dosage-sensitive genes in evolution and disease

from BMC Biology

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Epigenetic regulation in B-cell maturation and its dysregulation in autoimmunity

from Cellular and Molecular Immunology

Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders

from Cell Research

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

from npj Genomic Medicine

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Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects

from Journal of Inherited Metabolic Disease

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Gene Therapy of the Other Genome: The Challenges of Treating Mitochondrial DNA Defects

from Pharmaceutical Research

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Generating testable hypotheses for schizophrenia and rheumatoid arthritis pathogenesis by integrating epidemiological, genomic, and protein interaction data

from npj Schizophrenia

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Genetic Approaches to the Study of Gene Variants and Their Impact on the Pathophysiology of Type 2 Diabetes

from Biochemical Genetics

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Genetic architecture: the shape of the genetic contribution to human traits and disease

from Nature Reviews Genetics

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Genetic risk for Alzheimer’s disease is concentrated in specific macrophage and microglial transcriptional networks

from Genome Medicine

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Genetics of Congenital Heart Disease: Past and Present

from Biochemical Genetics

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Genetics of coronary artery disease: discovery, biology and clinical translation

from Nature Reviews Genetics

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Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas

from Nature Communications

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INSR gene polymorphisms correlate with sensitivity to platinum-based chemotherapy and prognosis in patients with epithelial ovarian cancer

from Gene Therapy

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

from Journal of Human Genetics

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

from Nature Genetics

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Molecular and functional variation in iPSC-derived sensory neurons

from Nature Genetics

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Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

from neurogenetics

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Mutations of PTPN23 in developmental and epileptic encephalopathy

from Human Genetics

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Nanoparticles in the Brain: A Potential Therapeutic System Targeted to an Early Defect Observed in Many Neurodegenerative Diseases

from Pharmaceutical Research

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Nothing in cancer makes sense except…

from BMC Biology

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Patterns of shared signatures of recent positive selection across human populations

from Nature Ecology & Evolution

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Pharmacogenomics of multigenic diseases: Sex-specific differences in disease and treatment outcome

from AAPS PharmSci

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PLAGL1: an important player in diverse pathological processes

from Journal of Applied Genetics

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Polymeric Micelles for Multi-Drug Delivery in Cancer

from AAPS PharmSciTech

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Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator

from Nature Communications

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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

from European Journal of Human Genetics

Relationship between C242T polymorphism and arterial stiffness in an apparently healthy population

from Journal of Human Hypertension

Relationship of long-term prognosis to MMP and TIMP polymorphisms in patients after ST elevation myocardial infarction

from Journal of Applied Genetics

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Renin angiotensinogen system gene polymorphisms and essential hypertension among people of West African descent: a systematic review

from Journal of Human Hypertension

S100B polymorphisms are associated with age of onset of Parkinson’s disease

from BMC Medical Genetics

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Study of the link between dopamine transporter gene polymorphisms and response to paroxetin and escitalopram in patients with lifelong premature ejaculation

from International Journal of Impotence Research

Telomerase-specific oncolytic adenovirus expressing TRAIL suppresses peritoneal dissemination of gastric cancer

from Gene Therapy

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The association between gene variants and longitudinal structural brain changes in psychosis: a systematic review of longitudinal neuroimaging genetics studies

from npj Schizophrenia

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The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014

from Genetics in Medicine

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The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases

from Leukemia

TRPA1 polymorphisms in chronic and complete spinal cord injury patients with neuropathic pain: a pilot study

from Spinal Cord Series and Cases

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

from Genome Biology

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Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

from Cell Research

Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans

from npj Genomic Medicine

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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

from neurogenetics

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