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Non-genetic physicians’ knowledge, attitudes and behavior towards medical genetics
To examine the knowledge, behavior, and attitudes toward medical genetics among obstetrics and gynecology, pediatrics, and neurology residents and...
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Association between rheumatoid arthritis and autoimmune thyroid disease: evidence from complementary genetic methods
ObjectivesTo assess the causal association of Rheumatoid Arthritis (RA) with Autoimmune thyroid disease (AITD).
MethodComplementary genetic...
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The genetic epidemiology of obsessive-compulsive disorder: a systematic review and meta-analysis
The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago....
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Genetic testing in children with nephrolithiasis and nephrocalcinosis
BackgroundDiagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine...
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Assessing the Impact of the Novel Sperm Selection Technique 'Annexin-V Coated Polystyrene Bead Technique' on Mouse Assisted Reproductive Techniques Outcomes: Preliminary Findings
ICSI is one of the most commonly used techniques to treat infertility. The sperm selection for the procedure is done ‘randomly’ by the embryologist...
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The Michigan Genetic Hereditary Testing (MiGHT) study’s innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial
BackgroundAlthough most cancers are sporadic, germline genetic variants are implicated in 5–10% of cancer cases. Clinical genetic testing identifies...
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Genetic mutation and immune infiltration in embryonal tumor with multilayered rosettes
PurposeGenetic mutations stand as pivotal factors leading to the occurrence of embryonal tumor with multilayered rosettes (ETMR). This study aims to...
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Impact of genetic predisposition to late-onset neurodegenerative diseases on early life outcomes and brain structure
Most patients with late-onset neurodegenerative diseases such as Alzheimer’s and Parkinson’s have a complex aetiology resulting from numerous genetic...
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A global view of the genetic basis of Alzheimer disease
The risk of Alzheimer disease (AD) increases with age, family history and informative genetic variants. Sadly, there is still no cure or means of...
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Can MRI features predict clinically relevant hepatocellular carcinoma genetic subtypes?
PurposeRecent studies in cancer genomics have revealed core drivers for hepatocellular carcinoma (HCC) pathogenesis. We aim to study whether MRI...
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Genome-wide association studies of coffee intake in UK/US participants of European ancestry uncover cohort-specific genetic associations
Coffee is one of the most widely consumed beverages. We performed a genome-wide association study ( GWAS ) of coffee intake in US-based 23andMe...
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The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with complex genetic architecture. Emerging evidence has indicated...
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Advancing the communication of genetic risk for cardiometabolic diseases: a critical interpretive synthesis
BackgroundGenetics play an important role in risk for cardiometabolic diseases—including type 2 diabetes, cardiovascular disease and obesity....
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Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
BackgroundSteroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in...
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Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical...
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Embryo Selection for a Carrier of an Early-Onset Alzheimer’s Disease-Associated Mutation in the PSEN1 Gene
Alzheimer’s disease (AD) is the most common neurodegenerative dementia. It manifests as early-onset or late-onset AD. Early-onset AD represents about...
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Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Following the reverse genetics strategy developed in the 1980s to pioneer the identification of disease genes, genome(s) sequencing has opened the...
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Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study
BackgroundAutism and different neurodevelopmental conditions frequently co-occur, as do their symptoms at sub-diagnostic threshold levels....
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Genetic animal modeling for idiopathic scoliosis research: history and considerations
PurposeIdiopathic scoliosis (IS) is defined as a structural lateral spinal curvature ≥ 10° in otherwise healthy children and is the most common...
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Step by step: towards a better understanding of the genetic architecture of Alzheimer’s disease
Alzheimer’s disease (AD) is considered to have a large genetic component. Our knowledge of this component has progressed over the last 10 years,...
