European Gene Mapping Project (EUROGEM): genetic maps based on the CEPH reference families

Sensitivity and specificity of the Cobas Liat CT/NG/MG nucleic acid test in a clinical laboratory setting and point-of-care location.

Journal of clinical microbiology·2025

CO2-Based micro-respirometry for measuring bacterial load under aerobic and anaerobic conditions.

The Analyst·2024

Reduced mitophagy is an early feature of NAFLD and liver-specific PARKIN knockout hastens the onset of steatosis, inflammation and fibrosis.

Scientific reports·2023

A modular spring-loaded actuator for mechanical activation of membrane proteins.

Nature communications·2022

Finding Order in Chaos: Quantitative Predictors of Chaos Terrain Morphology on Europa.

Geophysical research letters·2022

Command, control and communication (C3) during the COVID-19 pandemic; adapting a military framework to crisis response in a tertiary UK critical care centre.

Journal of the Intensive Care Society·2022

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

European journal of human genetics : EJHG·2026

Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.

European journal of human genetics : EJHG·2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

European journal of human genetics : EJHG·2026

Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.

European journal of human genetics : EJHG·2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

European journal of human genetics : EJHG·2026

Rapid genomic sequencing in the NICU: Who to test and why.

European journal of human genetics : EJHG·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

Related Experiment Videos

European Gene Mapping Project (EUROGEM): genetic maps based on the CEPH reference families

Related Concept Videos

Sensitivity and specificity of the Cobas Liat CT/NG/MG nucleic acid test in a clinical laboratory setting and point-of-care location.

CO2-Based micro-respirometry for measuring bacterial load under aerobic and anaerobic conditions.

Reduced mitophagy is an early feature of NAFLD and liver-specific PARKIN knockout hastens the onset of steatosis, inflammation and fibrosis.

A modular spring-loaded actuator for mechanical activation of membrane proteins.

Finding Order in Chaos: Quantitative Predictors of Chaos Terrain Morphology on Europa.

Command, control and communication (C3) during the COVID-19 pandemic; adapting a military framework to crisis response in a tertiary UK critical care centre.

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Rapid genomic sequencing in the NICU: Who to test and why.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Related Experiment Videos

European Gene Mapping Project (EUROGEM): genetic maps based on the CEPH reference families

Related Concept Videos

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