Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human genetics·2021

Serum fatty acid chain length associates with prevalent symptomatic end-stage osteoarthritis, independent of BMI.

Scientific reports·2020

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.

Multiple sclerosis and related disorders·2019

A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms.

Behavior genetics·2019

Short telomere length is associated with impaired cognitive performance in European ancestry cohorts.

Translational psychiatry·2017

A rare missense variant in RCL1 segregates with depression in extended families.

Molecular psychiatry·2017

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Frontiers in pediatrics·2026

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

European journal of human genetics : EJHG·2026

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Annals of medicine·2026

Familial short stature: genetic architecture, risk stratification, and precision management.

Frontiers in endocrinology·2026

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Related Experiment Videos

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

Related Concept Videos

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Serum fatty acid chain length associates with prevalent symptomatic end-stage osteoarthritis, independent of BMI.

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.

A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms.

Short telomere length is associated with impaired cognitive performance in European ancestry cohorts.

A rare missense variant in RCL1 segregates with depression in extended families.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.

Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women.

Familial short stature: genetic architecture, risk stratification, and precision management.

Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.

Related Experiment Videos

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

Related Concept Videos

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