1. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. Issue 12 (16th March 2020) Authors: Cabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G; Ravenscroft, Gina Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. (12th September 2018) Authors: Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, UK10K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel ... Journal: Human molecular genetics Issue: Volume 27:Number 24(2018:Dec. 15) Page Start: 4263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. (12th September 2018) Authors: Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, UK10K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel ... Journal: Human molecular genetics Issue: Volume 27:Number 24(2018:Dec. 15) Page Start: 4263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fetal akinesia: review of the genetics of the neuromuscular causes. Issue 12 (7th October 2011) Authors: Ravenscroft, Gianina; Sollis, Elliot; Charles, Adrian K; North, Kathryn N; Baynam, Gareth; Laing, Nigel G Journal: Journal of medical genetics Issue: Volume 48:Issue 12(2011) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation. Issue 9 (1st September 2017) Authors: Boutilier, Jordan K; Taylor, Rhonda L; Mann, Tracy; McNamara, Elyshia; Hoffman, Gary J; Kenny, Jacob; Dilley, Rodney J; Henry, Peter; Morahan, Grant; Laing, Nigel G; Nowak, Kristen J Journal: G3 Issue: Volume 7:Issue 9(2017) Page Start: 2999 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetics of neuromuscular fetal akinesia in the genomics era. Issue 8 (29th June 2018) Authors: Beecroft, Sarah Jane; Lombard, Marcus; Mowat, David; McLean, Catriona; Cairns, Anita; Davis, Mark; Laing, Nigel G; Ravenscroft, Gianina Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Is newborn screening for Duchenne muscular dystrophy ethically justifiable?. (July 2012) Authors: Bayley, Klair L; Laing, Nigel G Journal: Future neurology Issue: Volume 7:Number 4(2012) Page Start: 363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. (23rd December 2017) Authors: Tinklenberg, Jennifer A; Siebers, Emily M; Beatka, Margaret J; Meng, Hui; Yang, Lin; Zhang, Zizhao; Ross, Jacob A; Ochala, Julien; Morris, Carl; Owens, Jane M; Laing, Nigel G; Nowak, Kristen J; Lawlor, Michael W Journal: Human molecular genetics Issue: Volume 27:Number 4(2018:Feb. 15) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Issue 9 (15th October 2020) Authors: Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J; Chan, Sophelia HS; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, ... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. Issue 9 (7th March 2014) Authors: Ong, Royston W; AlSaman, Abdulaziz; Selcen, Duygu; Arabshahi, Arash; Yau, Kyle S; Ravenscroft, Gianina; Duff, Rachael M; Atkinson, Vanessa; Allcock, Richard J; Laing, Nigel G Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 9(2014) Page Start: 1058 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗