List of works - Mina Ryten

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Common genetic variants influence human subcortical brain structures

scientific article

Genetic variability in the regulation of gene expression in ten regions of the human brain

scientific article

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

scientific article published on 23 August 2011

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

scientific article

Gene expression changes with age in skin, adipose tissue, blood and brain

scientific article

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

scientific article

Widespread sex differences in gene expression and splicing in the adult human brain

scientific article published on January 2013

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

scientific article published on January 2017

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Insights into TREM2 biology by network analysis of human brain gene expression data

scientific article

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

scientific article

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

ATP regulates the differentiation of mammalian skeletal muscle by activation of a P2X5 receptor on satellite cells

scientific journal article

Abundant and dynamic expression of G protein‐coupled P2Y receptors in mammalian development

scientific article published on October 1, 2003

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

scientific article published on 22 January 2018

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Recursive splicing in long vertebrate genes

scientific article

P2Y purinergic receptors regulate the growth of human melanomas

scientific article published on 22 December 2004

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

scientific article

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

scientific article published on 21 February 2013

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

scientific article

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

scientific article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

ADCY5 mutations are another cause of benign hereditary chorea

scientific article

Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models

scientific article published in October 2015

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

scientific article published on July 2014

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

scientific article published on 10 July 2012

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

scientific article

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases

scientific article

Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures

scientific article

Age-associated changes in gene expression in human brain and isolated neurons

scientific article

Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer

scientific article published on 13 November 2007

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Purinergic receptor-mediated effects of ATP in high-grade bladder cancer

scientific article

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

scientific article

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

scientific article

Gene co-expression networks shed light into diseases of brain iron accumulation

scientific article

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis

scientific article

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

scientific article

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

scientific article

List of works by Mina Ryten

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Identification of common variants associated with human hippocampal and intracranial volumes

Common genetic variants influence human subcortical brain structures

Genetic variability in the regulation of gene expression in ten regions of the human brain

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Analysis of shared heritability in common disorders of the brain

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Gene expression changes with age in skin, adipose tissue, blood and brain

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Widespread sex differences in gene expression and splicing in the adult human brain

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Novel genetic loci associated with hippocampal volume

Insights into TREM2 biology by network analysis of human brain gene expression data

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

ATP regulates the differentiation of mammalian skeletal muscle by activation of a P2X5 receptor on satellite cells

Abundant and dynamic expression of G protein‐coupled P2Y receptors in mammalian development

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Recursive splicing in long vertebrate genes

P2Y purinergic receptors regulate the growth of human melanomas

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

ADCY5 mutations are another cause of benign hereditary chorea

Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases

Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures

Age-associated changes in gene expression in human brain and isolated neurons

Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Purinergic receptor-mediated effects of ATP in high-grade bladder cancer

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Gene co-expression networks shed light into diseases of brain iron accumulation

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy