Publications - Project MinE

Research

Publications

Project MinE* is a patient-driven groundbreaking genetic ALS research. The project is a worldwide collaboration between ALS centres and foundations.

All Project MinE data used in the listed publications were made accessible and available through funding by the Dutch ALS Foundation and co-funding by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to stimulate public-private partnerships.

Reconsidering the causality of TIA1 mutations in ALS

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

no abstract avalaible

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

McLaughlin RL, et al., Nature Communications, 2017

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological […]

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

Dolzhenko E, et al., Genome Res., 2017

Identifying large expansions of short tandem repeats (STRs) such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X […]

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

W. van Rheenen et al., European Journal of Human Genetics, 2018

The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic […]

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

K. Kenna et al., Nature Genetics, 2016

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) […]