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2019

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

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki, M. B., Laing, N. & Kirk, E., May 2019, In : European Journal of Human Genetics. 27, 5, p. 669-670 2 p.

Research output: Contribution to journalEditorial

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

Preconception and antenatal carrier screening for genetic conditions The critical role of general practitioners

Delatycki, M. B., Laing, N. G., Moore, S. J., Emery, J., Archibald, A. D., Massie, J. & Kirk, E. P., Mar 2019, In : Australian journal of general practice. 48, 3, p. 106-110 5 p.

Research output: Contribution to journalArticle

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
Open Access
Western Australia
Cohort Studies
Research Ethics Committees
Health
Women's Health Services
2018
1 Citation (Scopus)

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

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 journalArticle

Open Access
Nonsense Mediated mRNA Decay
Immunohistochemistry
Gait Ataxia
Apraxias
Stretch Reflex
2 Citations (Scopus)
10 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
3 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

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
14 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

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

2 Citations (Scopus)
46 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

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., 276.

Research output: Contribution to journalArticle

Open Access
9 Citations (Scopus)

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

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
4 Citations (Scopus)
Professional Education
Western Australia
Confidentiality
Insurance
Health Education
7 Citations (Scopus)
124 Downloads (Pure)

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 othersMarns, 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
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
7 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)

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
5 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 journalArticle

Open Access
Microsatellite Repeats
genome
microsatellite repeats
loci
Genome
2 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
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

20 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
1 Citation (Scopus)
127 Downloads (Pure)

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

7 Citations (Scopus)

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

149 Downloads (Pure)
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

6 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
115 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
5 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 journalArticle

Cystic Lymphangioma
Phenotype
Mutation
Neuromuscular Junction Diseases
Arthrogryposis
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

8 Citations (Scopus)

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
8 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

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

4 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., 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
8 Citations (Scopus)

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 othersRötig, 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
12 Citations (Scopus)
144 Downloads (Pure)

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 othersFiahlo, 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
15 Citations (Scopus)

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

5 Citations (Scopus)

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
44 Citations (Scopus)

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 othersSlørdahl, 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
15 Citations (Scopus)

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