G. Ravenscroft

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, A. O’Donnell-Luria, N. Laing, 2020, Journal of Medical Genetics.

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

G. Ravenscroft, N. Laing, R. Johnsen, 2022, Neuropathology and applied neurobiology.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

N. Laing, E. Oates, T. Beilharz, 2022, medRxiv.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

G. Ravenscroft, N. Laing, C. Paradas, 2019, Acta Neuropathologica Communications.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

N. Laing, M. Komatsu, A. Kornberg, 2020, Journal of Medical Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

N. Laing, K. Kiiski, M. Olivé, 2018, European journal of neurology.

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES EP.34 3′UTR variant in KLHL40 causes nemaline myopathy

E. Oates, E. Servián-Morilla, M. Cabrera-Serrano, 2021, Neuromuscular Disorders.

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

F. Magdinier, N. Voermans, N. van der Stoep, 2024, Clinical genetics.