Gene-environment interaction and public health

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Clinical genetics·2017

Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications.

European journal of neurology·2013

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

Neurology·2012

The relation between depression and parkin genotype: the CORE-PD study.

Parkinsonism & related disorders·2011

Accuracy of family history information on epilepsy and other seizure disorders.

Neurology·2011

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Neurology·2011

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

American journal of human genetics·2026

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

American journal of human genetics·2026

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

American journal of human genetics·2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

American journal of human genetics·2026

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

Gene-environment interaction and public health

Related Concept Videos

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications.

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

The relation between depression and parkin genotype: the CORE-PD study.

Accuracy of family history information on epilepsy and other seizure disorders.

Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Related Experiment Videos

Gene-environment interaction and public health

Related Concept Videos

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