Nigel G. Laing

Overview

Best Publications

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  674
  Citations

• Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

  T Siddique;D A Figlewicz;D A Figlewicz;M A Pericak-Vance;J L Haines

  526
  Citations

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

  Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce

  453
  Citations

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

  Laing Ng;Wilton Sd;Akkari Pa;Akkari Pa;Dorosz S

  423
  Citations

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

  Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry

  358
  Citations

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

  William K. Scott;Martha A. Nance;Ray L. Watts;Jean P. Hubble

  347
  Citations

• Nemaline myopathy: A clinical study of 143 cases

  Monique M. Ryan;Christina Schnell;Corinne D. Strickland;Lloyd K. Shield

  319
  Citations

• Approach to the diagnosis of congenital myopathies

  Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth

  293
  Citations

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

  Peter Nürnberg;Holger Thiele;Holger Thiele;David Chandler;Wolfgang Höhne

  269
  Citations

• Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

  Pankaj B. Agrawal;Rebecca S. Greenleaf;Kinga K. Tomczak;Vilma-Lotta Lehtokari

  268
  Citations

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

  Nigel G Laing;Danielle E Dye;Carina Wallgren-Pettersson;Gabriele Richard

  258
  Citations

• Prognosis in Familial Amyotrophic Lateral Sclerosis Progression and Survival in Patients with Glu100gly and Ala4val Mutations in Cu,Zn Superoxide Dismutase

  Tony Juneja;Margaret A. Pericak-Vance;Nigel G. Laing;Sundeep Dave

  241
  Citations

• Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease

  Eden R. Martin;William K. Scott;Martha A. Nance;Ray L. Watts

  241
  Citations

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

  Christopher Meredith;Ralf Herrmann;Cheryl Parry;Khema Liyanage

  233
  Citations

• Nemaline myopathy: Current concepts

  K.N. North;Nigel Laing;C. Wallgren-Pettersson

  232
  Citations

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

  Maria K. Tsaousidou;Karim Ouahchi;Tom T. Warner;Yi Yang

  229
  Citations

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

  John C. Sparrow;Kristen J. Nowak;Kristen J. Nowak;Hayley J. Durling;Alan H. Beggs

  225
  Citations

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

  Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd

  218
  Citations

• Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

  H. Jungbluth;C.R. Muller;B. Halliger-Keller;M. Brockington

  217
  Citations

• Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned

  Roula Ghaoui;Sandra T. Cooper;Sandra T. Cooper;Monkol Lek;Kristi Jones;Kristi Jones

  209
  Citations