• The University of Western Australia (M519), 35 Stirling Highway,

    6009 Perth

    Australia

  • 13121 Citations
  • 55 h-Index
1992 …2021
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Research Output 1992 2018

2018

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

Distal Myopathies
Spain
Mutation
MM Form Creatine Kinase
Muscles

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

UK10K Consortium, 12 Sep 2018, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Myotonia Congenita
Skeletal Muscle
Myosin Light Chains
Mutation
Exome

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 21 Feb 2018, In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

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

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 12 Jan 2018, In : European Journal of Human Genetics. p. 1-9 9 p.

Research output: Contribution to journalArticle

1 Citations

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
Genetic Heterogeneity
Charcot-Marie-Tooth Disease
Tibial Nerve
Sural Nerve
1 Citations

Genetics of neuromuscular fetal akinesia in the genomics era

Beecroft, S. J., Lombard, M., Mowat, D., McLean, C., Cairns, A., Davis, M., Laing, N. G. & Ravenscroft, G., 1 Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 505-514 10 p.

Research output: Contribution to journalReview article

Genomics
Hypokinesia
Explosions
Neuromuscular Junction
Family Planning Services
Professional Education
Western Australia
Confidentiality
Insurance
Health Education
1 Citations

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Lassuthova, P. , Rebelo, A. P. , Ravenscroft, G. , Lamont, P. J. , Davis, M. R. , Manganelli, F. , Feely, S. M. , Bacon, C. , Brožková, D. Š. , Haberlova, J. , Mazanec, R. , Tao, F. , Saghira, C. , Abreu, L. , Courel, S. , Powell, E. , Buglo, E. , Bis, D. M. , Baxter, M. F. , Ong, R. W. & 14 others Marns, L., Lee, Y. C., Bai, Y., Isom, D. G., Barro-Soria, R., Chung, K. W., Scherer, S. S., Larsson, H. P., Laing, N. G., Choi, B. O., Seeman, P., Shy, M. E., Santoro, L. & Zuchner, S., 1 Mar 2018, In : American Journal of Human Genetics. 102, 3, p. 505-514 10 p.

Research output: Contribution to journalArticle

Open Access
File
Axons
Tooth
Mutation
Information Dissemination
Genetic Association Studies

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

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

Nemaline Myopathies
Arthrogryposis
Myotonia Congenita
Troponin T
Muscle Hypotonia

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 journalArticle

Open Access
Microsatellite Repeats
genome
microsatellite repeats
loci
Genome

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 others Basnayake, 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
2017

ATP1A1 REPRESENTS A SIGNIFICANT NOVEL DOMINANT CMT2 GENE

Lassuthova, P., Rebelo, A., Ravenscroft, G., Lamont, P., Baxter, M., Ong, R., Davis, M., Manganelli, F., Tao, F., Saghira, C., Abreu, L., Bai, Y., Isom, D., Laing, N., B-O, C., Seeman, P., Shy, M., Santoro, L. & Zuchner, S., Sep 2017, In : Journal of the Peripheral Nervous System. 22, 3, p. 325-325 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

Cabrera-Serrano, M., Rivas-Infante, E., Mavillard, F., Morar, B., Comas, D., Carvajal, A., Avila, R., Muelas, N., Olive, M., Diaz, J., Verges, E., Romero, N., Laporte, J., Vilchez, J., Laing, N., Kalaydjieva, L. & Paradas, C., Oct 2017, In : Neuromuscular Disorders. 27, p. S172-S173 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

7 Citations

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

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., Sep 2017, In : Neuromuscular Disorders. 27, 9, p. 873-878

Research output: Contribution to journalArticle

Open Access
File
Distal Myopathies
Cystinosis
Siblings
Cysteamine
Muscles

Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?

Oates, E., Yau, K., Jones, K., Smith, J., Cummings, B., Farrar, M., Cooper, S., Lek, M., Hoffman, E., Straub, V., Ferreiro, A., Udd, B., Beggs, A., Bonnemann, C., North, K., MacArthur, D., Granzier, H., Muntoni, F., Davis, M. & Laing, N., Oct 2017, In : Neuromuscular Disorders. 27, p. S237-S238 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

4 Citations

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Beecroft, S. J., McLean, C. A., Delatycki, M. B., Koshy, K., Yiu, E., Haliloglu, G., Orhan, D., Lamont, P. J., Davis, M. R., Laing, N. G. & Ravenscroft, G., Jul 2017, In : Neuromuscular Disorders. 27, 7, p. 607-615

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Mutation
Lower Extremity
Hereditary Spastic Paraplegia
Myotonia Congenita

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

Open Access
File
Gene Regulatory Networks
Atrial Fibrillation
Myocardium
Gene Expression
Lung

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

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 others Verhoef, 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
42 Citations

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 others Claeys, 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
1 Citations

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 journalArticle

Cystic Lymphangioma
Phenotype
Mutation
Neuromuscular Junction Diseases
Arthrogryposis
9 Citations

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

4 Citations

Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments

Molster, C. M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A. J., Straub, V., Dawkins, H. J. S. & Laing, N., 24 Feb 2017, In : Frontiers in Public Health. 5, FEB, 25

Research output: Contribution to journalArticle

Open Access
Education
Decision Making
Population Control
Health Services Needs and Demand
Medical Genetics
4 Citations

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

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

Ardicli, D., Nowak, K., Haliloglu, G., Goullee, H., Davis, M., Talim, B., Laing, N. & Topaloglu, H., Oct 2017, In : Neuromuscular Disorders. 27, p. S196-S196 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2 Citations

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., 26 Aug 2017, In : Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.

Research output: Contribution to journalArticle

Methylation
Actins
Skeletal Muscle
Quantitative Trait Loci
Protein Isoforms

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

2016
6 Citations

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, A. , Gordon, C. T. , Godard, F. , Ravenscroft, G. , Oufadem, M. , Vasnier, C. , Rambaud, C. , Nitschke, P. , Bole-Feysot, C. , Masson, C. , Dauger, S. , Longman, C. , Laing, N. G. , Kugener, B. , Bonnet, D. , Bouvagnet, P. , Di Filippo, S. , Probst, V. , Redon, R. , Charron, P. & 7 others Rötig, A., Lyonnet, S., Dautant, A., De Pontual, L., Di Rago, J-P., Delahodde, A. & Amiel, J., 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 666-673

Research output: Contribution to journalArticle

Open Access
Sudden Cardiac Death
Yeasts
Mutation
Mitochondria
Pyrophosphatases
8 Citations

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

Siciliani Scalco, R. , Gardiner, A. R. , Pitceathly, R. D. S. , Hilton-Jones, D. , Schapira, A. H. , Turner, C. , Parton, M. , Desikan, M. , Barresi, R. , Marsh, J. , Manzur, A. Y. , Childs, A-M. , Feng, L. , Murphy, E. , Lamont, P. J. , Ravenscroft, G. , Wallefeld, W. , Davis, M. R. , Laing, N. G. , Holton, J. L. & 7 others Fiahlo, D., Bushby, K., Hanna, M. G., Phadke, R., Jungbluth, H., Houlden, H. & Quinlivan, R., Aug 2016, In : Neuromuscular Disorders. 26, 8, p. 504-510

Research output: Contribution to journalArticle

Open Access
File
Rhabdomyolysis
Myalgia
Caveolin 3
Exercise
Mutation
10 Citations

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

O'Grady, G. L., Lek, M., Lamande, S. R., Waddell, L., Oates, E. C., Punetha, J., Ghaoui, R., Sandaradura, S. A., Best, H., Kaur, S., Davis, M., Laing, N. G., Muntoni, F., Hoffman, E., Macarthur, D. G., Clarke, N. F., Cooper, S. & North, K., 7 Jul 2016, In : Annals of Neurology. 80, 1, p. 101-111 11 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Genes
Biopsy
Muscles
Congenital Myasthenic Syndromes

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

2 Citations

Health care utilization and costs for children and adults with duchenne muscular dystrophy

Teoh, L., Geelhoed, E., Bayley, K., Leonard, H. & Laing, N., Jun 2016, In : Muscle and Nerve. 53, 6, p. 877-884

Research output: Contribution to journalArticle

Patient Acceptance of Health Care
Duchenne Muscular Dystrophy
Health Care Costs
Costs and Cost Analysis
Economics
29 Citations

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

Zaharieva, I. T. , Thor, M. G. , Oates, E. C. , Van Karnebeek, C. , Hendson, G. , Blom, E. , Witting, N. , Rasmussen, M. , Gabbett, M. T. , Ravenscroft, G. , Sframeli, M. , Suetterlin, K. , Sarkozy, A. , D'Argenzio, L. , Hartley, L. , Matthews, E. , Pitt, M. , Vissing, J. , Ballegaard, M. , Krarup, C. & 20 others Slørdahl, A., Halvorsen, H., Ye, X. C., Zhang, L. H., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M. R., Feng, L., Phadke, R., Sewry, C. A., Morgan, J. E., Laing, N., Vallance, H., Ruben, P., Hanna, M. G., Lewis, S., Kamsteeg, E. J., Männikkö, R. & Muntoni, F., Mar 2016, In : Brain. 139, 3, p. 674-691 18 p.

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Hypokinesia
Mutation
Muscle Weakness
Myotonia
10 Citations

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., Nov 2016, In : Neuromuscular Disorders. 26, 11, p. 744-748

Research output: Contribution to journalArticle

Arthrogryposis
Mutation
Micrognathism
Hereditary Spastic Paraplegia
Parturition
17 Citations

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

Baynam, G. , Pachter, N. , McKenzie, F. , Townshend, S. , Slee, J. , Kiraly-Borri, C. , Vasudevan, A. , Hawkins, A. , Broley, S. , Schofield, L. , Verhoef, H. , Walker, C. E. E. , Molster, C. , Blackwell, J. M. , Jamieson, S. , Tang, D. , Lassmann, T. , Mina, K. , Beilby, J. , Davis, M. & 5 others Laing, N., Murphy, L., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 2016, In : Orphanet Journal of Rare Diseases. 11, 7 p., 77

Research output: Contribution to journalArticle

Genetic Services
Diagnostic Services
High-Throughput Nucleotide Sequencing
Rare Diseases
Western Australia
5 Citations

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

O'Grady, G. L. , Best, H. A. , Sztal, T. E. , Schartner, V. , Sanjuan-Vazquez, M. , Donkervoort, S. , Abath Neto, O. , Sutton, R. B. , Ilkovski, B. , Romero, N. B. , Stojkovic, T. , Dastgir, J. , Waddell, L. B. , Boland, A. , Hu, Y. , Williams, C. , Ruparelia, A. A. , Maisonobe, T. , Peduto, A. J. , Reddel, S. W. & 22 others Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K., Talim, B., Topaloglu, H., Laing, N., North, K. N., Macarthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bönnemann, C. G., Laporte, J. & Cooper, S. T., 3 Nov 2016, In : American Journal of Human Genetics. 99, 5, p. 1086-1105

Research output: Contribution to journalArticle

Open Access
Zebrafish
Muscular Diseases
Oxidoreductases
NAD
Nucleotides

What is the role for preconception carrier screening in neurology?

Laing, N., 2016, In : Advances in Clinical Neuroscience and Rehabilitation. 16, 1, p. 5-6 2 p.

Research output: Contribution to journalComment/debate

Open Access
2015
4 Citations

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

Cabrera-Serrano, M., Fabian, V. A., Boutilier, J., Wise, C., Faiz, F., Lamont, P. & Laing, N., Dec 2015, In : Clinical Genetics. 88, 6, p. 573–578

Research output: Contribution to journalReview article

Open Access
File
Distal Myopathies
Ophthalmoplegia
Muscular Diseases
Mutation
Myotonia Congenita
17 Citations
Megalencephaly
Germ-Line Mutation
Intellectual Disability
Costello Syndrome
Thorax
5 Citations

Clinical utility gene card for: Nemaline myopathy - update 2015

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., Nov 2015, In : European Journal of Human Genetics. 23, 11, p. e1-e5 5 p.

Research output: Contribution to journalArticle

Open Access
File
1 Citations

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
20 Citations

Expanding the phenotype of GMPPB mutations

Cabrera-Serrano, M., Ghaoui, R., Ravenscroft, G., Johnsen, R. D., Davis, M. R., Corbett, A., Reddel, S., Sue, C. M., Liang, C., Waddell, L. B., Kaur, S., Lek, M., North, K. N., Macarthur, D. G., Lamont, P., Clarke, N. F. & Laing, N., Apr 2015, In : Brain. 138, 4, p. 836-844

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Rhabdomyolysis
Phenotype
Intellectual Disability
Mutation
28 Citations

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Ravenscroft, G. , Nolent, F. , Rajagopalan, S. , Meireles, A. M. , Paavola, K. J. , Gaillard, D. , Alanio, E. , Buckland, M. , Arbuckle, S. , Krivanek, M. , Maluenda, J. , Pannell, S. , Gooding, R. , Ong, R. , Allcock, R. , Carvalho, E. D. F. , Carvalho, M. D. F. , Kok, F. , Talbot, W. S. , Melki, J. & 1 others Laing, N., 4 Jun 2015, In : The American Journal of Human Genetics. 96, 6, p. 955-961

Research output: Contribution to journalArticle

Open Access
Arthrogryposis
Exome
Mutation
Peripheral Nerves
Axons
28 Citations

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Todd, E. , Yau, K. , Ong, R. , Slee, J. , Mcgillivray, G. , Barnett, C. P. , Haliloglu, G. , Talim, B. , Akcoren, Z. , Kariminejad, A. , Cairns, A. , Clarke, N. F. , Freckmann, M. L. , Romero, N. B. , Williams, D. , Sewry, C. A. , Colley, A. , Ryan, M. M. , Kiraly-Borri, C. , Sivadorai, P. & 6 others Allcock, R., Beeson, D., Maxwell, S., Davis, M. R., Laing, N. & Ravenscroft, G., 17 Nov 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 14 p., 148

Research output: Contribution to journalArticle

Open Access
Neuromuscular Diseases
Parturition
Myotonia Congenita
Arthrogryposis
Hypokinesia
35 Citations

Pathophysiological concepts in the congenital myopathies: Blurring the boundaries, sharpening the focus

Ravenscroft, G., Laing, N. & Bönnemann, C. G., 1 Feb 2015, In : Brain. 138, 2, p. 246-268 23 p.

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Genes
Skeletal Muscle
Pathology
Excitation Contraction Coupling
10 Citations

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S. , Papadaki, M. , De Winter, J. M. , Neu, M. B. , Kirschner, J. , Bolduc, V. , Yang, M. L. , Gibbons, M. A. , Hu, Y. , Dastgir, J. , Leach, M. E. , Rutkowski, A. , Foley, A. R. , Krüger, M. , Wartchow, E. P. , Mcnamara, E. , Ong, R. , Nowak, K. , Laing, N. , Clarke, N. F. & 3 others Ottenheijm, C. A. C., Marston, S. B. & Bönnemann, C. G., Dec 2015, In : Annals of Neurology. 78, 6, p. 982-994

Research output: Contribution to journalArticle

Open Access
File
Tropomyosin
Actins
Phenotype
Muscles
Mutation