H. Goullée

发表

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

G. Ravenscroft, N. Laing, Mark R. Davis, 2020, Molecular Diagnosis & Therapy.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

L. Balmer, G. Morahan, N. Laing, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.

A haplotype spanning P2X7R, P2X4R and CAMKK2 may mark susceptibility to pulmonary non-tuberculous mycobacterial disease

P. Price, C. Cherry, S. Baltic, 2017, Immunogenetics.

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

N. Laing, A. Kariminejad, M. Salari, 2018, Neurology: Genetics.

Polymorphisms in CAMKK2 may predict sensory neuropathy in African HIV patients

P. Price, C. Cherry, P. Kamerman, 2016, Journal of NeuroVirology.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Joshua S. Clayton, G. Ravenscroft, N. Laing, 2019, Human molecular genetics.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

H. True, G. Ravenscroft, N. Laing, 2022, bioRxiv.

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

Joshua S. Clayton, J. Kijas, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Joshua S. Clayton, K. Pelin, G. Ravenscroft, 2020, Acta Neuropathologica Communications.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

G. Ravenscroft, N. Laing, A. Kariminejad, 2017, Brain : a journal of neurology.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

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

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction

N. Laing, A. Kariminejad, O. Rackham, 2018, Neurology: Genetics.

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel

Joshua S. Clayton, A. Forrest, G. Ravenscroft, 2021, Skeletal muscle.

Bi‐allelic mutations in MYL1 cause a severe congenital myopathy

A. Forrest, F. Muntoni, G. Ravenscroft, 2018, Human molecular genetics.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Joshua S. Clayton, N. Laing, H. Galehdari, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Susceptibility to non-tuberculous mycobacterial disease is influenced by rs1518111 in IL10.

P. Price, S. Baltic, R. Allcock, 2017, Human immunology.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Joshua S. Clayton, N. Laing, H. Galehdari, 2020, Genetics in Medicine.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

L. Balmer, G. Morahan, N. Laing, 2017, Biochimica et biophysica acta. Gene regulatory mechanisms.