Nigel G. Laing

Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families

L. Waddell, N. Laing, F. Evesson, 2020, Neuropathology and applied neurobiology.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Yoshihiko Saito, R. Bryson-Richardson, G. Ravenscroft, 2023, medRxiv.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Brent S. Pedersen, H. Mefford, A. Quinlan, 2021, bioRxiv.