Nigel G. Laing

Research interests

Publications

• Genome Sequencing for Diagnosing Rare Diseases

  New England Journal of Medicine · 2024 · https://doi.org/10.1056/nejmoa2314761

• Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

  Science Advances · 2022 · https://doi.org/10.1126/sciadv.abm5386

• Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

  New England Journal of Medicine · 2022 · https://doi.org/10.1056/nejmoa2207406

• Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

  Brain · 2020 · https://doi.org/10.1093/brain/awz418

• STRetch: detecting and discovering pathogenic short tandem repeat expansions

  Genome biology · 2018 · 10.1186/s13059-018-1505-2

• Congenital Titinopathy: Comprehensive characterization and pathogenic insights

  Annals of Neurology · 2018 · https://doi.org/10.1002/ana.25241

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.005

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Science Translational Medicine · 2017 · 10.1126/scitranslmed.aal5209

• Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

  JAMA Neurology · 2015 · 10.1001/jamaneurol.2015.2274

• Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

  Journal of Clinical Investigation · 2014 · 10.1172/jci75199

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.05.004

• Approach to the diagnosis of congenital myopathies

  Neuromuscular Disorders · 2013 · 10.1016/j.nmd.2013.11.003

• Consensus Statement on Standard of Care for Congenital Myopathies

  Journal of Child Neurology · 2012 · 10.1177/0883073812436605

• Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.04.021

• Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1 )

  Human Mutation · 2009 · 10.1002/humu.21059

• Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2007.10.001

• Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

  The American Journal of Human Genetics · 2006 · 10.1086/510402

• Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

  The American Journal of Human Genetics · 2004 · 10.1086/424760

• Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

  Neuromuscular Disorders · 2003 · 10.1016/s0960-8966(03)00101-9

• Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

  Nature Genetics · 2001 · 10.1038/ng0501-37

• Complete genomic screen in Parkinson disease: evidence for multiple genes.

  PubMed · 2001 · 10.1001/jama.286.18.2239

• Nemaline myopathy: A clinical study of 143 cases

  Annals of Neurology · 2001 · 10.1002/ana.1080

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Proceedings of the National Academy of Sciences · 1999 · https://doi.org/10.1073/pnas.96.5.2305

• Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

  Nature Genetics · 1999 · https://doi.org/10.1038/13837

• Prognosis in Familial Amyotrophic Lateral Sclerosis

  Neurology · 1997 · 10.1212/wnl.48.1.55

• A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

  Nature Genetics · 1995 · https://doi.org/10.1038/ng0195-75

• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

  Nature · 1993 · 10.1038/362059a0

Current projects

No projects listed.