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Author

  • Nigel Laing
Abstract/Meeting Abstract

A CMT family with AD and AR inheritance of a MME variant

Ravenscroft, G., Ong, R., Laing, N. & Lamont, P., Oct 2019, In : Neuromuscular Disorders. 29, p. S201-S201 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Childhood-onset spinal muscular' atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant

Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N. & Tajsharghi, H., Oct 2019, In : Neuromuscular Disorders. 29, p. S148-S148 1 p., P.276.

Research output: Contribution to journalAbstract/Meeting Abstract

Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics

Ravenscroft, G., Clayton, J., Faiz, F., Milnes, D., Cincotta, R., Moon, P., McGrath, P., Colley, A., Chao, K., Laing, N. & Davis, M., Oct 2019, In : Neuromuscular Disorders. 29, p. S119-S119 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples

Beecroft, S., Ong, R., Yau, K., Duff, R., Allcock, R., Davis, M., Lamont, P. & Laing, N., Oct 2015, In : Neuromuscular Disorders. 25, p. S299-S300 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

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

Kariminejad, A., Dahl-Halvarsson, M., Ravenscroft, G., Afroozan, F., Keshavarz, E., Zonooz, M. F., Najmabadi, H., Goullee, H., Davis, M., Laing, N. & Tajsharghi, H., Jul 2019, In : European Journal of Human Genetics. 27, p. 314-314 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Article

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
35 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
21 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

20 Citations (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

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

25 Citations (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

Open Access
File
1 Citation (Scopus)
77 Downloads (Pure)

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 others, Estournet-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
145 Citations (Scopus)

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
1 Citation (Scopus)

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
5 Citations (Scopus)
270 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
6 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
13 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

13 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
18 Citations (Scopus)
292 Downloads (Pure)

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: Nemaline myopathy

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., 2012, In : European Journal of Human Genetics. 20, p. 4pp

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

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
8 Citations (Scopus)
188 Downloads (Pure)

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

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
1 Citation (Scopus)
284 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
22 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 others, Glanzman, 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

76 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
29 Citations (Scopus)

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

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

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
2 Citations (Scopus)
356 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
2 Citations (Scopus)
126 Downloads (Pure)

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

20 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

10 Citations (Scopus)

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

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

34 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

12 Citations (Scopus)

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

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

5 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

40 Citations (Scopus)
Open Access
File
2 Citations (Scopus)
511 Downloads (Pure)

Genetics of neuromuscular disorders

Laing, N., 2012, In : Critical Reviews in Clinical Laboratory Sciences. 49, p. 33-48

Research output: Contribution to journalArticle

37 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

5 Citations (Scopus)

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: A case report

Mc Glacken-Byrne, A. B., Prentice, D., Roshandel, D., Brown, M. R., Tuch, P., Yau, K. S. Y., Sivadorai, P., Davis, M. R., Laing, N. G. & Chen, F. K., 24 Feb 2020, In : BMC Ophthalmology. 20, 1, 68.

Research output: Contribution to journalArticle

Open Access

Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., Manton, N. D., Muntoni, F., North, K. N., Sandaradura, S. A., Nishino, I., Hayashi, Y. K., Sewry, C. A., Thompson, E. M. & 10 others, Yau, K., Brownstein, C. A., Yu, T. W., Allcock, R., Davis, M. R., Wallgren-Pettersson, C., Matsumoto, N., Alkuraya, F. S., Laing, N. & Beggs, A. H., 2013, In : American Journal of Human Genetics. 93, p. 1108-1117

Research output: Contribution to journalArticle

Open Access
92 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 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.

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164 Citations (Scopus)

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

Scott, A. P., Laing, N., Mastaglia, F., Dalakas, M., Needham, M. & Allcock, R., 2012, In : Journal of Neuroimmunology. 250, 1-2, p. 66-70

Research output: Contribution to journalArticle

15 Citations (Scopus)