Research output per year
Research output per year
Research output
- 10 Article
- 10 results
Search results
-
2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Sedghi, M., Salari, M., Moslemi, A. R., Kariminejad, A., Davis, M., Goullée, H., Olsson, B., Laing, N. & Tajsharghi, H., 1 Dec 2018, In: Neurology: Genetics. 4, 6, e295.Research output: Contribution to journal › Article › peer-review
Open Access11 Citations (Web of Science) -
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In: Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile27 Citations (Scopus)205 Downloads (Pure) -
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Lee, R. G., Sedghi, M., Salari, M., Shearwood, A-M. J., Stentenbach, M., Kariminejad, A., Goullee, H., Rackham, O., Laing, N. G., Tajsharghi, H. & Filipovska, A., Oct 2018, In: Neurology: Genetics. 4, 5, 10 p., e276.Research output: Contribution to journal › Article › peer-review
Open Access27 Citations (Scopus) -
STRetch: Detecting and discovering pathogenic short tandem repeat expansions
Dashnow, H., Lek, M., Phipson, B., Halman, A., Sadedin, S., Lonsdale, A., Davis, M., Lamont, P., Clayton, J. S., Laing, N. G., MacArthur, D. G. & Oshlack, A., 21 Aug 2018, In: Genome Biology. 19, 1, 121.Research output: Contribution to journal › Article › peer-review
Open Access87 Citations (Scopus) -
2017
Cystinosis distal myopathy, novel clinical, pathological and genetic features
Cabrera, M., Junckerstorff, R. C., Alisheri, A., Pestronk, A., Laing, N. G., Weihl, C. C. & Lamont, P. J., Sept 2017, In: Neuromuscular Disorders. 27, 9, p. 873-878 6 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Web of Science)463 Downloads (Pure) -
Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation
Boutilier, J. K., Taylor, R. L., Mann, T., McNamara, E., Hoffman, G. J., Kenny, J., Dilley, R. J., Henry, P., Morahan, G., Laing, N. G. & Nowak, K. J., 1 Sept 2017, In: G3: Genes, Genomes, Genetics. 7, 9, p. 2999-3017 19 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)343 Downloads (Pure) -
Human pleural fluid is a potent growth medium for Streptococcus pneumoniae
Popowicz, N. D., Lansley, S. M., Cheah, H. M., Kay, I. D., Carson, C. F., Waterer, G. W., Paton, J. C., Brown, J. S. & Lee, Y. C. G., 1 Nov 2017, In: PLoS One. 12, 11, e0188833.Research output: Contribution to journal › Article › peer-review
Open Access18 Citations (Scopus) -
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene
Abdalla, E., Ravenscroft, G., Zayed, L., Beecroft, S. J. & Laing, N. G., 1 Jun 2017, In: Neuromuscular Disorders. 27, 6, p. 537-541 5 p.Research output: Contribution to journal › Article › peer-review
16 Citations (Scopus) -
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation
Boutilier, J. K., Taylor, R. L., Ram, R., McNamara, E., Nguyen, Q., Goullée, H., Chandler, D., Mehta, M., Balmer, L., Laing, N. G., Morahan, G. & Nowak, K. J., Oct 2017, In: Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile19 Citations (Scopus)132 Downloads (Pure) -
2016
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
Ravenscroft, G., Di Donato, N., Hahn, G., Davis, M. R., Craven, P. D., Poke, G., Neas, K. R., Neuhann, T. M., Dobyns, W. B. & Laing, N. G., 1 Nov 2016, In: Neuromuscular Disorders. 26, 11, p. 744-748 5 p.Research output: Contribution to journal › Article › peer-review
44 Citations (Web of Science)