2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
Journal of Medical Genetics, 61(10), 992. https://doi.org/10.1136/jmg-2024-109970
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene
Human Mutation, 2024(1), 6496088. https://doi.org/https://doi.org/10.1155/2024/6496088
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
J Neurol Neurosurg Psychiatry​, jnnp-2024-333436. doi: https://doi.org/10.1136/jnnp-2024-333436
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
Brain, awae371. https://doi.org/10.1093/brain/awae371
Lein NH Dofash, Lee B Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi, Rita J Serrano, Rachel Templin, Georg Ramm, Alison Rodger, Joel Haywood, Evan Ingley, Joshua S Clayton, Rhonda L Taylor, Chiara L Folland, David Groth, Daniella H Hock, David A Stroud, Svetlana Gorokhova, Sandra Donkervoort, Carsten G Bönnemann, Malika Sud, Grace VanNoy, Brian E Mangilog, Lynn Pais, Marcos Madruga-Garrido, Marcello Scala, Chiara Fiorillo, Serena Baratto, Monica Traverso, Claudio Bruno, Federico Zara, Carmen Paradas, Katsuhisa Ogata, Ichizo Nishino, Nigel G Laing, Robert J Bryson-Richardson, Macarena Cabrera-Serrano, Gianina Ravenscroft. (2024)
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Nature Communications, 15(1), 6327. https://doi.org/10.1038/s41467-024-49950-2
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski P, Chintalaphani S, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz B, Ellis M, Fearnley LG, Tankard R, Read J, Bahlo M, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez G, Masingue M, Giovannini D, Delatycki M, Storey E, Gardner M, Amor D, Nicholson G, Vucic S, Henderson RD, Thomas Robertson, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M, OPDM study group, Genomics England, Quinlivan R, Hammans S, Tucci A, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson I, Lockhart P, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. (2024)
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hyper-contractile muscle disease
Sci Trans Med 16(741): eadg2841. doi: https://doi.org/10.1126/scitranslmed.adg2841
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. (2024)
2023
Ablation of the carboxy end of MAMDC2 causes a distinct muscular dystrophy
Brain, 146: 5235-5248. doi: https://doi.org/10.1093/brain/awad256
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G~,*, Cabrera-Serrano M~,*. (2023)
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics
Brain Communications, doi: https://doi.org/10.1093/braincomms/fcad208
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G*. (2023)
Deep intronic FGF14 GAA repeat expansion in late onset cerebellar ataxia
N Engl J Med, 388:128-14. doi: https://doi.org/10.1056/nejmoa2207406
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. (2023)
2022
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
Brain 145(11):3985-3998. doi: https://doi.org/10.1093/brain/awab484
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin H, Ceylander S, Vockley J, Taylor RL, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G*. (2022)
2021
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
J Med Genet 58:609-618. doi: https://doi.org/10.1136/jmedgenet-2020-106901
Ravenscroft G, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, P Moon, P McGrath, B Kamien, M Edwards, M Delatycki, PJ Lamont, S Chan, A Colley, A Ma, G McGillivray, S Ghedia, K Chao, A O’Donnell-Luria, NG Laing, MR Davis. (2021).
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic hernia, pulmonary and cardiovascular defects
Hum Mut 42:506-519. doi: https://doi.org/10.1002/humu.24179
[NOTE: selected for Editorial Highlight]
Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G*. (2021)
Heterozygous CAPN3 missense variants causing autosomal dominant calpainopathy in seven families. Neuropath Appl Neurobiol 47:283-296. doi: https://doi.org/10.1111/nan.12663
Gonzalez-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Dominguez-Gonzalez C, Arteche-Lopez A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servian-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Lain A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing NG, Olive M. (2021).
2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Brain 143:2904-2910. doi: https://doi.org/10.1093/brain/awaa263
CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, N Dominik, M Rodrigues, E Walker, Z Dyer, TY Wu, MR Davis, DC Chandler, B Weisburd, H Houlden, MM Reilly, NG Laing, PJ Lamont, Richard H. Roxburgh, G Ravenscroft*. (2020)
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Nature Comms 11,4625. doi: https://doi.org/10.1038/s41467-020-18327-6
Martin PB, Kigoshi-Tansho Y, Sher RB, Ravenscroft G, Stauffer JE, Kumar R, Yonashiro R, Müller T, Griffith G, Allen W, Pehlivan D, Haral T, Zenker M, Howting D, Schanze D, Faqeih EA, Almontashiri NAM, Maroofian R, Houlden H, Mazaheri N, Galehdari H, Douglas G, Posey JE, Ryan M, Lupski JR, Laing NG, Joazeiro CAP, Cox GA.
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Acta Neuropath Commun 8:140. doi: https://doi.org/10.1186/s40478-020-01017-1
Clayton JC, McNamara EL, Goullee H, Conijn S, Musk GC, Coote D, Kijas J, Testa AC, Taylor RT, O’Hara M, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ. (2020)
Targeted gene panel use in 2,249 neuromuscular patients: the Australasian referral center experience
Ann Clin Transl Neurol 7:353-362. doi: https://doi.org/10.1002/acn3.51002
Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. (2020)
2019 - earlier
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic inclusions.
Nat Commun 10:1396. doi: https://doi.org/10.1038/s41467-019-09111-2
NOTE: highlighted as one of the Top10 neuromuscular disease discoveries for the year; Margeta 2020;
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M~, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, 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 NG. (2019)
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Am J Hum Genet 96:955-961. doi: https://doi.org/10.1016/j.ajhg.2015.04.014
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. (2015).
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
J Clin Invest 124:3529-3539 doi: https://doi.org/10.1172/jci74994
Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson, EN. (2014).
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Am J Hum Genet 93:6-18. doi: https://doi.org/10.1016/j.ajhg.2013.05.004
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. (2013)
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
Brain 134:1101-1115. doi: https://doi.org/10.1093/brain/awr004
Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (2011)