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  • 2020
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  • Gina Ravenscroft

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Beecroft, S. J., Cortese, A., Sullivan, R., Yau, W. Y., Dyer, Z., Wu, T. Y., Mulroy, E., Pelosi, L., Rodrigues, M., Taylor, R., Mossman, S., Leadbetter, R., Cleland, J., Anderson, T., Ravenscroft, G., Laing, N. G., Houlden, H., Reilly, M. M. & Roxburgh, R. H., 1 Sep 2020, In : Brain : a journal of neurology. 143, 9, p. 2673-2680 8 p.

Research output: Contribution to journalArticle

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

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
6 Citations (Scopus)
368 Downloads (Pure)

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 others, Kehlenbach, 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
9 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 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
14 Citations (Scopus)

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
19 Citations (Scopus)
366 Downloads (Pure)

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 others, Ryan, 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
29 Citations (Scopus)

Cylindrical spirals in two families: Clinical and genetic investigations

Beecroft, S. J., Olive, M., Quereda, L. G., Gallano, P., Ojanguren, I., McLean, C., McCombe, P., Laing, N. G. & Ravenscroft, G., Feb 2020, In : Neuromuscular Disorders. 30, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

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

Open Access
File
14 Citations (Scopus)
46 Downloads (Pure)

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

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

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

12 Citations (Scopus)

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

González-Mera, L., Ravenscroft, G., Cabrera-Serrano, M., Ermolova, N., Domínguez-González, C., Arteche-López, A., Soltanzadeh, P., Evesson, F., Navas, C., Mavillard, F., Clayton, J., Rodrigo, P., Servián-Morilla, E., Cooper, S. T., Waddell, L., Reardon, K., Corbett, A., Hernandez-Laín, A., Sanchez, A., Esteban Perez, J. & 5 others, Paradas-Lopez, C., Rivas-Infante, E., Spencer, M., Laing, N. & Olivé, M., 2020, (Accepted/In press) In : Neuropathology and Applied Neurobiology.

Research output: Contribution to journalArticle

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

7 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 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
62 Citations (Scopus)
9 Citations (Scopus)

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
15 Citations (Scopus)
390 Downloads (Pure)

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

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta Neuropathologica Communications. 8, 1, p. 18

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Martin, P. B., Kigoshi-Tansho, Y., Sher, R. B., Ravenscroft, G., Stauffer, J. E., Kumar, R., Yonashiro, R., Müller, T., Griffith, C., Allen, W., Pehlivan, D., Haral, T., Zenker, M., Howting, D., Schanze, D., Faqeih, E. A., Almontashiri, N. A. M., Maroofian, R., Houlden, H., Mazaheri, N. & 8 others, Galehdari, H., Douglas, G., Posey, J. E., Ryan, M., Lupski, J. R., Laing, N. G., Joazeiro, C. A. P. & Cox, G. A., 1 Dec 2020, In : Nature Communications. 11, 1, 4625.

Research output: Contribution to journalArticle

Open Access

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

13 Citations (Scopus)

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

Clayton, J. S., McNamara, E. L., Goullee, H., Conijn, S., Muthsam, K., Musk, G. C., Coote, D., Kijas, J., Testa, A. C., Taylor, R. L., O'Hara, A. J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 20 Aug 2020, In : Acta Neuropathologica Communications. 8, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

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

27 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

10 Citations (Scopus)

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

McNamara, E. L., Taylor, R. L., Clayton, J. S., Goullee, H., Dilworth, K. L., Pinós, T., Brull, A., Alexander, I. E., Lisowski, L., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 1 Jan 2020, In : Human Molecular Genetics. 29, 1, p. 20-30 11 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., Kresoje, N., Ong, R., Duff, R. M., Cabrera-Serrano, M., Nowak, K. J., Pachter, N., Ravenscroft, G., Lamont, P. J., Davis, M. R. & Laing, N. G., 9 Mar 2020, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
2 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

16 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 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

6 Citations (Scopus)

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