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2018
4 Citations (Scopus)

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Bonnin, E., Cabochette, P., Filosa, A., Jühlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., Ravenscroft, G., Lombard, M., Port, S., Spillner, C., Janssens, S., Roets, E., Van Dorpe, J., Lammens, M. & 6 othersKehlenbach, R. H., Ficner, R., Laing, N. G., Hoffmann, K., Vanhollebeke, B. & Fahrenkrog, B., 1 Dec 2018, In : PLoS Genetics. 14, 12, e1007845.

Research output: Contribution to journalArticle

Open Access
Nuclear Pore Complex Proteins
nucleoporins
lethal genes
defect
mutation
2010
7 Citations (Scopus)

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation

Stenzel, W., Prokop, S., Kress, W., Huppmann, S., Loui, A., Sarioglu, N. M. E., Laing, N., Sparrow, J. C., Heppner, F. L. & Goebel, H. H., 2010, In : Neuromuscular Disorders. 20, p. 531-533

Research output: Contribution to journalArticle

18 Citations (Scopus)

Investigation of changes in skeletal muscle a-actin expression in normal and pathological human and mouse hearts

Copeland, O. N., Nowak, K., Laing, N., Ravenscroft, G., Messer, A. E., Bayliss, C. R. & Marston, S. B., 2010, In : Journal of Muscle Research and Cell Motility. 31, p. 207-214

Research output: Contribution to journalArticle

2018
8 Citations (Scopus)

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Sandaradura, S. A., Bournazos, A., Mallawaarachchi, A., Cummings, B. B., Waddell, L. B., Jones, K. J., Troedson, C., Sudarsanam, A., Nash, B. M., Peters, G. B., Algar, E. M., Macarthur, D. G., North, K. N., Brammah, S., Charlton, A., Laing, N. G., Wilson, M. J., Davis, M. R. & Cooper, S. T., Mar 2018, In : Human Mutation. 39, 3, p. 383-388

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Arthrogryposis
Troponin
Myotonia Congenita
Muscle Hypotonia
4 Citations (Scopus)

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle alpha-actin nemaline myopathy

Messineo, A. M., Gineste, C., Sztal, T. E., McNamara, E. L., Vilmen, C., Ogier, A. C., Hahne, D., Bendahan, D., Laing, N. G., Bryson-Richardson, R. J., Gondin, J. & Nowak, K. J., 31 Jul 2018, In : Scientific Reports. 8, 12 p., 11490.

Research output: Contribution to journalArticle

Open Access
2011
67 Citations (Scopus)

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Duff, R., Tay, V., Hackman, P., Ravenscroft, G., Mclean, C., Kennedy, P., Steinbach, A., Schöffler, W., Van Der Ven, P. F. M., Fürst, D. O., Song, J., Dijnović-Carugo, K., Penttilä, S., Raheem, O., Reardon, K., Malandrini, A., Gambelli, S., Villanova, M., Nowak, K., Williams, D. R. & 4 othersLanders, J. E., Brown Jr, R. H., Udd, B. & Laing, N., 2011, In : American Journal of Human Genetics. 88, p. 1-6

Research output: Contribution to journalArticle

Open Access
2017

Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohort

Beecroft, S., Choi, R., McLean, C., Olive, M., Ryan, M., Davis, M., Laing, N., Launikonis, B. & Ravenscroft, G., Oct 2017, In : Neuromuscular Disorders. 27, p. S97-S97 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2013
12 Citations (Scopus)

Cardiac α-actin over-expression therapy in dominant ACTA1 disease

Ravenscroft, G., Mcnamara, E., Griffiths, L. M., Papadimitriou, J., Hardeman, E. C., Bakker, T., Davies, K. E., Laing, N. & Nowak, K., 2013, In : Human Molecular Genetics. 22, 19, p. 3987-3997

Research output: Contribution to journalArticle

2017
11 Citations (Scopus)

New era in genetics of early-onset muscle disease: Breakthroughs and challenges

Ravenscroft, G., Davis, M. R., Lamont, P., Forrest, A. & Laing, N. G., Apr 2017, In : Seminars in Cell and Developmental Biology. 64, p. 160-170 11 p.

Research output: Contribution to journalReview article

2019
1 Citation (Scopus)

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation
2018
1 Citation (Scopus)
32 Downloads (Pure)

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., Rivas-Infante, E., Area-Gómez, E., Chamorro-Muñoz, M. I., Gil-Gálvez, A., Miranda-Vizuete, A., Martinez-Mir, A., Laing, N. & Paradas, C., 1 Oct 2018, In : Neuromuscular Disorders. 28, 10, p. 828-836 9 p.

Research output: Contribution to journalArticle

Open Access
File
Distal Myopathies
Spain
Mutation
MM Form Creatine Kinase
Muscles

Clinical Utility Gene Card for autosomal dominant myotonia congenita (Thomsen Disease)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 1 Jul 2018, In : European Journal of Human Genetics. 26, 7, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

Open Access
2017
22 Citations (Scopus)

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A. & O'Grady, G. L., 2017, In : Genome Medicine. 2

Research output: Contribution to journalArticle

Open Access
High-Throughput Nucleotide Sequencing
Exome
Neuromuscular Diseases
Cost-Benefit Analysis
Pediatrics
2018
3 Citations (Scopus)

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

Ravenscroft, G., Pannell, S., O'Grady, G., Ong, R., Ee, H. C., Faiz, F., Marns, L., Goel, H., Kumarasinghe, P., Sollis, E., Sivadorai, P., Wilson, M., Magoffin, A., Nightingale, S., Freckmann, M. L., Kirk, E. P., Sachdev, R., Lemberg, D. A., Delatycki, M. B., Kamm, M. A. & 7 othersBasnayake, C., Lamont, P. J., Amor, D. J., Jones, K., Schilperoort, J., Davis, M. R. & Laing, N. G., 1 Sep 2018, In : Neurogastroenterology and Motility. 30, 9, e13371.

Research output: Contribution to journalArticle

Intestinal Pseudo-Obstruction
Phenotype
Smooth Muscle
Contractile Proteins
Pregnancy
4 Citations (Scopus)
Professional Education
Western Australia
Confidentiality
Insurance
Health Education
2019

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Olivé, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hool, L. C., Cladera, J. & 24 othersLagerstedt-Robinson, K., Xiang, F., Wredenberg, A., Miralles, F., Baiges, J. J., Malfatti, E., Romero, N. B., Streichenberger, N., Vial, C., Claeys, K. G., Straathof, C. S. M., Goris, A., Freyer, C., Lammens, M., Bassez, G., Kere, J., Clemente, P., Sejersen, T., Udd, B., Vidal, N., Ferrer, I., Edström, L., Wedell, A. & Laing, N. G., 1 Dec 2019, In : Nature Communications. 10, 1, 1396.

Research output: Contribution to journalArticle

Open Access
myoglobin
Myoglobin
Muscular Diseases
inclusions
muscles
2014
9 Citations (Scopus)

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

Barnett, C. P., Todd, E. J., Ong, R., Davis, M. R., Atkinson, V., Allcock, R., Laing, N. & Ravenscroft, G., 2014, In : American Journal of Medical Genetics, Part A. 164, 7, p. 1846-1849

Research output: Contribution to journalLetter

2017
10 Citations (Scopus)

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

Kariminejad, A., Dahl-Halvarsson, M., Ravenscroft, G., Afroozan, F., Keshavarz, E., Goullée, H., Davis, M. R., Faraji Zonooz, M., Najmabadi, H., Laing, N. G. & Tajsharghi, H., 1 Nov 2017, In : Brain. 140, 11, p. 2851-2859 9 p.

Research output: Contribution to journalArticle

Arthrogryposis
Strabismus
Tremor
Mutation
Penetrance
2011
5 Citations (Scopus)

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

Saito, Y., Komaki, H., Hattori, A., Takeuchi, F., Sasaki, M., Kawabata, K., Mitsuhashi, S., Tominaga, K., Hayashi, Y. K., Nowak, K. J., Laing, N. G., Nonaka, I. & Nishino, I., 2011, In : Neuromuscular Disorders. 21, 7, p. 489-493

Research output: Contribution to journalArticle

20 Citations (Scopus)

Actin nemaline myopathy mouse reproduces disease, suggests other Actin Disease phenotypes and provides cautionary note on muscle transgene expression

Ravenscroft, G., Jackaman, C., Sewry, CA., Mcnamara, E., Squire, SE., Potter, AC., Papadimitriou, J., Griffiths, LM., Bakker, T., Davies, K., Laing, N. & Nowak, K., 2011, In : PLoS One. 6, 12, p. 1-13

Research output: Contribution to journalArticle

Open Access
2018
6 Citations (Scopus)

Myostatin inhibition using mrk35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

Tinklenberg, J. A., Siebers, E. M., Beatka, M. J., Meng, H., Yang, L., Zhang, Z., Ross, J. A., Ochala, J., Morris, C., Owens, J. M., Laing, N. G., Nowak, K. J. & Lawlor, M. W., 15 Feb 2018, In : Human Molecular Genetics. 27, 4, p. 638-648 11 p., ddx431.

Research output: Contribution to journalArticle

Nemaline Myopathies
Myostatin
Skeletal Muscle
Forelimb
Muscle Strength
2015
69 Citations (Scopus)

Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: Outcomes and lessons learned

Ghaoui, R., Cooper, S. T., Lek, M., Jones, K., Corbett, A., Reddel, S. W., Needham, M., Liang, C., Waddell, L. B., Nicholson, G., O'Grady, G., Kaur, S., Ong, R., Davis, M., Sue, C. M., Laing, N., North, K. N., Macarthur, D. G. & Clarke, N. F., Dec 2015, In : JAMA Neurology. 72, 12, p. 1424-1432

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Exome
Muscular Diseases
Genes
Mutation
2014
83 Citations (Scopus)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N. A., Quinlan, K. G. R., Lehtokari, V. L., Ravenscroft, G., Todd, E., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B. & 37 othersGupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E. E., Van Den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E. S., Chitayat, D. A., Telfer, W. R., Laquerrière, A., Gregorio, C. C., Ottenheijm, C. A. C., Bönnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y., Roméro, N. B., Laing, N., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., Macarthur, D. G., North, K. N. & Clarke, N. F., Nov 2014, In : Journal of Clinical Investigation. 124, 11, p. 4693-4708

Research output: Contribution to journalArticle

Nemaline Myopathies
Actin Cytoskeleton
Muscles
Skeletal Muscle
Myotonia Congenita
2010
22 Citations (Scopus)

Evidence of Altered Guinea Pig Ventricular Cardiomyocyte Protein Expression and Growth in Response to a 5 min in vitro Exposure to H2O2

Seenarain, V., Viola, H., Ravenscroft, G., Casey, T. M., Lipscombe, R. J., Ingley, E., Laing, N., Bringans, S. D. & Hool, L., 2010, In : Journal of Proteome Research. 9, p. 1985-1994

Research output: Contribution to journalArticle

2016

Distal Myopathies

Lamont, P. J. & Laing, N. G., 2016, International Neurology. R. P. L. D. D. T. W. M. C. R. B. (ed.). 2nd ed. United States: John Wiley & Sons, p. 494-496 3 p.

Research output: Chapter in Book/Conference paperChapter

2014

Congenital/ultrastructural myopathies

Ravenscroft, G., Clarke, N. F. & Laing, N., 2014, Oxford Textbook of Neuromuscular Disorders. Hilton-Jones, D. & Turner, M. R. (eds.). First ed. United Kingdom: Oxford University Press, p. 277-287

Research output: Chapter in Book/Conference paperChapter

2013
98 Citations (Scopus)

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Ravenscroft, G., Miyatake, S., Lehtokari, V-L., Todd, E., Vornanen, P., Yau, K., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M. & 35 othersBryson-Richardson, R. J., Vaz, R., Ceyhan, O., Brownstein, C. A., Swanson, L. C., Monnot, S., Romero, N. B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A., Fabian, V. A., Davis, M. R., Lammens, M., Sewry, C. A., Manzur, A., Muntoni, F., Clarke, N. F., North, K. N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I. E., Topaloglu, H., Beggs, A. H., Allcock, R., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N. & Laing, N., 2013, In : American Journal of Human Genetics. 93, 1, p. 6-18

Research output: Contribution to journalArticle

Open Access
2014
50 Citations (Scopus)
214 Downloads (Pure)

Mutation update: The spectra of nebulin variants and associated myopathies

Lehtokari, V. L., Kiiski, K., Sandaradura, S. A., Laporte, J. F., Repo, P., Frey, J. A., Donner, K. M., Marttila, M., Saunders, C., Barth, P. G., Den Dunnen, J. T., Beggs, A. H., Clarke, N. F., North, K. N., Laing, N., Roméro, N. B., Winder, T. L., Pelin, K. & Wallgren-Pettersson, C., Dec 2014, In : Human Mutation. 35, 12, p. 1418-1426

Research output: Contribution to journalArticle

Open Access
File
Muscular Diseases
Nemaline Myopathies
Mutation
Genes
Distal Myopathies
2015
1 Citation (Scopus)
226 Downloads (Pure)

Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy

Reis, G. F., De La Motte, G., Gooding, R., Laing, N. & Margeta, M., Dec 2015, In : Neuropathology. 35, 6, p. 575-581

Research output: Contribution to journalArticle

Open Access
File
Distal Myopathies
Quadriceps Muscle
Biopsy
Mutation
Modifier Genes
2012
73 Citations (Scopus)

Consensus Statement on Standard of Care for Congenital Myopathies

Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R., Gurgel-Giannetti, J. & 14 othersGlanzman, A. M., Hofmeister, B., Jungbluth, H., Koumbourlis, A. C., Laing, N., Main, M., Morrison, L. A., Munns, C., Rose, K., Schuler, P. M., Sewry, C., Storhaug, K., Vainzof, M. & Yuan, N., 2012, In : Journal of Child Neurology. 27, p. 363-382

Research output: Contribution to journalArticle

2013
24 Citations (Scopus)

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Clarke, N. F., Amburgey, K., Teener, J., Camelo-Piragua, S., Kesari, A., Punetha, J., Waddell, L. B., Davis, M., Laing, N., Monnier, N., North, K. N., Hoffman, E. P. & Dowling, J. J., 2013, In : Neuromuscular Disorders. 23, 5, p. 432-436

Research output: Contribution to journalArticle

2018
2 Citations (Scopus)
74 Downloads (Pure)

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

Hobbelink, S. M. R., Brockley, C. R., Kennedy, R. A., Carroll, K., de Valle, K., Rao, P., Davis, M. R., Laing, N. G., Voermans, N. C., Ryan, M. M. & Yiu, E. M., 1 Apr 2018, In : Brain and Behavior. 8, 4, e00919.

Research output: Contribution to journalArticle

Open Access
File
Hereditary Sensory and Motor Neuropathy
Tibial Nerve
Sural Nerve
Ulnar Nerve
Median Nerve
2014
9 Citations (Scopus)

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

Finsterer, J. H., Brandau, O., Stöllberger, C., Wallefeld, W., Laing, N. & Laccone, F. A., 2014, In : Neuromuscular Disorders. 24, 8, p. 721-725

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Distal Myopathies
Dilated Cardiomyopathy
Cardiac Arrhythmias
2012
50 Citations (Scopus)

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Cullup, T., Lamont, P. J., Cirak, S., Damian, M. S., Wallefeld, W., Gooding, R., Tan, S. V., Sheehan, J., Muntoni, F., Abbs, S., Sewry, C. A., Dubowitz, V., Laing, N. & Jungbluth, H., 2012, In : Neuromuscular Disorders. 22, p. 1096-1104

Research output: Contribution to journalArticle

2015
20 Citations (Scopus)

A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. & Goldblatt, J., 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1659-1667

Research output: Contribution to journalArticle

Megalencephaly
Germ-Line Mutation
Intellectual Disability
Costello Syndrome
Thorax
2018
17 Citations (Scopus)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 othersRyan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Toepf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H-M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E-J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Boennemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Open Access
2017
136 Citations (Scopus)

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O'Grady, G. L., Estrella, E., Reddy, H. M., Zhao, F., Weisburd, B., Karczewski, K. J., O'Donnell-Luria, A. H., Birnbaum, D., Sarkozy, A., Hu, Y., Gonorazky, H. & 226 othersClaeys, K., Joshi, H., Bournazos, A., Oates, E. C., Ghaoui, R., Davis, M., Laing, N. G., Topf, A., Kang, P. B., Beggs, A. H., North, K. N., Straub, V., Dowling, J. J., Muntoni, F., Clarke, N. F., Cooper, S. T., Bönnemann, C. G., MacArthur, D. G., Ardlie, K. G., Getz, G., Gelfand, E. T., Segrè, A. V., Aguet, F., Sullivan, T. J., Li, X. G., Nedzel, J. L., Trowbridge, C. A., Hadley, K., Huang, K. H., Noble, M. S., Nguyen, D. T., Nobel, A. B., Wright, F. A., Shabalin, A. A., Palowitch, J. J., Zhou, Y. H., Dermitzakis, E. T., McCarthy, M. I., Payne, A. J., Lappalainen, T., Castel, S., Kim-Hellmuth, S., Mohammadi, P., Battle, A., Parsana, P., Mostafavi, S., Brown, A., Ongen, H., Delaneau, O., Panousis, N., Howald, C., Van De Bunt, M., Guigo, R., Monlong, J., Reverter, F., Garrido, D., Munoz, M., Bogu, G., Sodaei, R., Papasaikas, P., Ndungu, A. W., Montgomery, S. B., Li, X., Fresard, L., Davis, J. R., Tsang, E. K., Zappala, Z., Abell, N. S., Gloudemans, M. J., Liu, B., Damani, F. N., Saha, A., Kim, Y., Strober, B. J., He, Y., Stephens, M., Pritchard, J. K., Wen, X., Urbut, S., Cox, N. J., Nicolae, D. L., Gamazon, E. R., Im, H. K., Brown, C. D., Engelhardt, B. E., Park, Y. S., Jo, B., McDowell, I. C., Gewirtz, A., Gliner, G., Conrad, D., Hall, I., Chiang, C., Scott, A., Sabatti, C., Eskin, E., Peterson, C., Hormozdiari, F., Kang, E. Y., Mangul, S., Han, B., Sul, J. H., Feinberg, A. P., Rizzardi, L. F., Hansen, K. D., Hickey, P., Akey, J., Kellis, M., Li, J. B., Snyder, M., Tang, H., Jiang, L., Lin, S., Stranger, B. E., Fernando, M., Oliva, M., Stamatoyannopoulos, J., Kaul, R., Halow, J., Sandstrom, R., Haugen, E., Johnson, A., Lee, K., Bates, D., Diegel, M., Pierce, B. L., Chen, L., Kibriya, M. G., Jasmine, F., Doherty, J., Demanelis, K., Smith, K. S., Li, Q., Zhang, R., Nierras, C. R., Moore, H. M., Rao, A., Guan, P., Vaught, J. B., Branton, P. A., Carithers, L. J., Volpi, S., Struewing, J. P., Martin, C. G., Nicole, L. C., Koester, S. E., Addington, A. M., Little, A. R., Leinweber, W. F., Thomas, J. A., Kopen, G., McDonald, A., Mestichelli, B., Shad, S., Lonsdale, J. T., Salvatore, M., Hasz, R., Walters, G., Johnson, M., Washington, M., Brigham, L. E., Johns, C., Wheeler, J., Roe, B., Hunter, M., Myer, K., Foster, B. A., Moser, M. T., Karasik, E., Gillard, B. M., Kumar, R., Bridge, J., Miklos, M., Jewell, S. D., Rohrer, D. C., Valley, D., Montroy, R. G., Mash, D. C., Davis, D. A., Undale, A. H., Smith, A. M., Tabor, D. E., Roche, N. V., McLean, J. A., Vatanian, N., Robinson, K. L., Sobin, L., Barcus, M. E., Valentino, K. M., Qi, L., Hunter, S., Hariharan, P., Singh, S., Um, K. S., Matose, T., Tomadzewski, M. M., Siminoff, L. A., Traino, H. M., Mosavel, M., Barker, L. K., Zerbino, D. R., Juettmann, T., Taylor, K., Ruffier, M., Sheppard, D., Trevanion, S., Flicek, P., Kent, W. J., Rosenbloom, K. R., Haeussler, M., Lee, C. M., Paten, B., Vivan, J., Zhu, J., Goldman, M., Craft, B., Li, G., Ferreira, P. G., Yeger-Lotem, E., Maurano, M. T., Barshir, R., Basha, O., Xi, H. S., Quan, J., Sammeth, M. & Zaugg, J. B., 19 Apr 2017, In : Science Translational Medicine. 9, 386, eaal5209.

Research output: Contribution to journalArticle

Open Access
Transcriptome
RNA Sequence Analysis
Rare Diseases
Collagen
Exome
2019

Recessive MYH7-related myopathy in two families

Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A. & Jungbluth, H., Jun 2019, In : Neuromuscular Disorders. 29, 6, p. 456-467 12 p.

Research output: Contribution to journalArticle

Muscular Diseases
Mutation
Noninvasive Ventilation
Muscles
COS Cells
2017
7 Citations (Scopus)

Improved diagnosis and care for rare diseases through implementation of precision public health framework

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L. & 39 othersVerhoef, H., Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

Public health
Rare Diseases
Public Health
Health Policy
Health
2018
3 Citations (Scopus)
153 Downloads (Pure)

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 journalArticle

Open Access
File
Myotonia Congenita
Skeletal Muscle
Myosin Light Chains
Mutation
Exome
5 Citations (Scopus)

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

Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G. & Tajsharghi, H., 1 Jun 2018, In : European Journal of Neurology. 25, 6, p. 841-847 7 p.

Research output: Contribution to journalArticle

Nemaline Myopathies
Ryanodine Receptor Calcium Release Channel
Genes
Skeletal Muscle
Mutation
2014

Clinical and genetic characterization of distal myopathies

Cabrera, M., Junckerstorff, R., Needham, M., Lamont, P. & Laing, N., 2014, 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24. p. 810

Research output: Chapter in Book/Conference paperConference paper

50 Citations (Scopus)

KLHL40 deficiency destabilizes thin filament proteins and promotes Nemaline myopathy

Garg, A., O'Rourke, J. R., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., Laing, N., Grange, R. W., Bassel-Duby, R. S. & Olson, E. N., 1 Aug 2014, In : Journal of Clinical Investigation. 124, 8, p. 3529-3539 11 p.

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Sarcomeres
Proteins
Myotonia Congenita
Muscles
70 Citations (Scopus)

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

Agrawal, P. B., Pierson, C. R., Joshi, M., Liu, X., Ravenscroft, G., Moghadaszadeh, B., Talabere, T., Viola, M., Swanson, L. C., Haliloǧlu, G., Talim, B. B., Yau, K., Allcock, R., Laing, N., Perrella, M. A. & Beggs, A. H., 31 Jul 2014, In : American Journal of Human Genetics. 95, 2, p. 218-226 9 p.

Research output: Contribution to journalArticle

Open Access
Congenital Structural Myopathies
Dilated Cardiomyopathy
Mutation
Desmin
Muscles
137 Citations (Scopus)

Approach to the diagnosis of congenital myopathies

North, K. N., Wang, C. H., Clarke, N. F., Jungbluth, H., Vainzof, M., Dowling, J. J., Amburgey, K., Quijano-Roy, S., Beggs, A. H., Sewry, C. A., Laing, N., Bönnemann, C. G., Aloysius, A., Apkon, S. D., Bellini, J., Bertini, E., Biancalana, V. V., Birnkrant, D. J., Bushby, K. M. D., Connolly, A. M. & 39 othersEstournet-Mathiaud, B., Ferreiro, A., Fitzgerald, D. A., Florence, J. M., Richard Gee, P. T., Giannetti, J. G., Glanzman, A. M., Goebel, H. H., Guillet, M., Hofmeister, B., Labeit, S., Laporte, J., Little, D., Kemp, J., Koumbourlis, A. C., Main, M., Matthews, D., Morrison, L. A., Munns, C. F. J., Muntoni, F. M., Navarro, C. A., Panitch, H., Pelin, K., Rose, K. J., Santiago, M. T., Schroth, M. K., Sejersen, T., Simonds, A. K., Da Silva, A. H. C., Rinsky, L. A., Roméro, N. B., Schochet, P., Schüler, P. M., Shapiro, F. D., Storhaug, K., Wallgren-Pettersson, C., Wallis, C., Weiss, H. & Yuan, N., 2014, In : Neuromuscular Disorders. 24, 2, p. 97-116

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Muscles
Pathology
Genes
Mutation
2012
35 Citations (Scopus)

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

Martilla, M., Lemola, E., Wallefeld, W., Memo, M., Donner, K., Laing, N., Marston, S., Grönholm, M. & Wallgren-Pettersen, C., 2012, In : Biochemical Journal. 442, p. 231-239

Research output: Contribution to journalArticle

Open Access
2017

Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?

Ravenscroft, G., Laing, N. & Ong, R., 14 Jul 2017, The Conversation.

Research output: Contribution to specialist publicationArticle

2011
40 Citations (Scopus)

Fetal akinesia: review of the genetics of the neuromuscular causes

Ravenscroft, G., Sollis, E., Charles, A. K., North, K. A., Baynam, G. & Laing, N., 2011, In : Journal of Medical Genetics. 48, p. 793-801

Research output: Contribution to journalArticle

2017

What prospective parents need to know about gene tests such as ‘prepair’

Ravenscroft, G., Farrar, M., Laing, N. & Ong, R., 17 Nov 2017, The Conversation.

Research output: Contribution to specialist publicationArticle

2010

The Congenital Myopathies

Wallgren-Pettersson, C. & Laing, N., 2010, Disorders of Voluntary Muscle. Karpati, G., Hilton-Jones, D., Bushby, K. & Griggs, R. C. (eds.). 8th Edition ed. United Kingdom: Cambridge University Press, p. 282-298

Research output: Chapter in Book/Conference paperChapter