P. Sivadorai

发表

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, A. O’Donnell-Luria, N. Laing, 2020, Journal of Medical Genetics.

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

F. Chen, N. Laing, Mark R. Davis, 2020, BMC Ophthalmology.

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

R. Kaneva, L. Kalaydjieva, P. Seeman, 2008, Clinical genetics.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

F. Mastaglia, H. Kremer, G. Ravenscroft, 2010, American journal of human genetics.

Tracking the fate of iron in early development of human blood flukes

D. McManus, Malcolm K. Jones, G. Gobert, 2007, The international journal of biochemistry & cell biology.

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

G. Ravenscroft, N. Laing, N. Pachter, 2020, Annals of clinical and translational neurology.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

G. Ravenscroft, N. Laing, J. Wilmshurst, 2011, Neuromuscular Disorders.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

K. Friend, G. Ravenscroft, E. Todd, 2013, Neuromuscular Disorders.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

M. Kamm, G. Ravenscroft, N. Laing, 2018, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype

N. Laing, P. Lamont, R. Allcock, 2015, Muscle & nerve.

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.

J. Bertranpetit, E. Coto, L. Kalaydjieva, 2008, Molecular immunology.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

K. Friend, G. Ravenscroft, E. Todd, 2013, Neuromuscular Disorders.