Publication Archive - Page 3 of 3

Dutch population structure across space, time and GWAS design.

Nat Commun. (2020) - Byrne RP, et al.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.

Cell Rep. (2020) - Cooper-Knock J, et al.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

Ann Neurol. (2021) - Moisse M, et al.

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

J Neurol Neurosurg Psychiatry (2021) - Shepheard SR, et al.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nat Genet. (2021) - van Rheenen W, et al.

Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid.

Brain Pathol. (2022) - Petrozziello T, et al.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Sci Transl Med (2021) - Paul J Hop, et al.

The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.

Brain (2022) - Mehta PR, et al.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes.

Nat Communications (2023) - Megat S, et al.

Genetic variability in sporadic amyotrophic lateral sclerosis.

Brain (2023) - Van Daele SH, et al.

A GCC repeat expansion in AFF3 is a significant cause of intellectual disability.

medRxiv (2023) - Jadhav Bharati, et al.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Brain (2023) - Zanovello M, et al.

Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.

Brain (2023) - Dilliott AA, et al.

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener (2023) - Spargo TP, et al.

Cortical structure and the risk of amyotrophic lateral sclerosis: A bidirectional Mendelian randomization study.

Prog Neuropsychopharmacol Biol Psychiatry (2023) - Jia H, et al.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

Nature Genetics (2023) - Bharati Jadhav, et al.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Nature Genetics (2016) - van Rheenen W, et al.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Nature Genetics (2016) - K. Kenna et al.

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

European Journal of Human Genetics (2018) - Project MinE ALS Sequencing Consortium

Detection of long repeat expansions from PCR-free whole-genome sequence data

Genome Research (2017) - Dolzhenko E, et al.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Nature Communications (2017) - McLaughlin RL, et al.

Reconsidering the causality of TIA1 mutations in ALS

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2017) - van der Spek, RA., et al.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Neuron (2018) - Nicolas A., et al.

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

Frontiers in Molecular Neuroscience (2017) - Cooper-Knock J., et al.

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Annals of Neurology (2018) - Project MinE ALS Sequencing Consortium

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Neurobiology of Aging (2018) - Tazelaar GHP, et al.

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Scientific Reports (2019) - Dekker AM, et al.

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Human Mutation (2020) - Tunca C, et al.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nature Genetics (2021) - van Rheenen W, et al.

Publications

Dutch population structure across space, time and GWAS design.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes.

Genetic variability in sporadic amyotrophic lateral sclerosis.

A GCC repeat expansion in AFF3 is a significant cause of intellectual disability.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

Cortical structure and the risk of amyotrophic lateral sclerosis: A bidirectional Mendelian randomization study.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Detection of long repeat expansions from PCR-free whole-genome sequence data

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Reconsidering the causality of TIA1 mutations in ALS

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology