R. McLaughlin

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We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus and a Late Upper Palaeolithic (13,700 years old, 9.5-fold) male from Switzerland. While we detect Late Palaeolithic-Mesolithic genomic(More)
The Great Hungarian Plain was a crossroads of cultural transformations that have shaped European prehistory. Here we analyse a 5,000-year transect of human genomes, sampled from petrous bones giving consistently excellent endogenous DNA yields, from 13 Hungarian Neolithic, Copper, Bronze and Iron Age burials including two to high (~22 × ) and seven to ~1 ×(More)
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the(More)
BACKGROUND Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts. METHODS Using targeted high-throughput sequencing, we characterised the variation of 10 Mendelian and 23(More)
This paper assesses the performance of dual header pulse interval modulation (DH-PIM) over indoor optical wireless systems. DH-PIM being anisochronous scheme offers a built-in symbol synchronization capability. Theoretical and simulation results demonstrate that DH-PIM offers shorter symbol length, improved transmission rate and bandwidth requirement and a(More)
OBJECTIVE To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. METHODS A prospective, single-center, single-protocol, gray and white matter magnetic resonance case-control imaging study was undertaken with 30 C9orf72-negative patients with ALS, 9 patients with ALS carrying(More)
BACKGROUND Body region of onset and functional disability are key components of disease heterogeneity in amyotrophic lateral sclerosis (ALS). OBJECTIVES To evaluate patterns of grey matter pathology in the motor cortex and correlate focal structural changes with functional disability. METHODS We conducted a single-centre neuroimaging study of a cohort(More)
BACKGROUND The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. METHOD A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according(More)
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an exome-wide rare variant burden analysis of 363 index cases(More)
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants(More)