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Author Details

Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
1978
331
68
PMIDPaper TitleJournal TitlePublished Year
36322148A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.Hum Mol Genet2023
37621409<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.Brain Commun2023
37503746Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.Brain2023
37425777A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.bioRxiv2023
37209493Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.Neuromuscul Disord2023
37198692Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.Genome Biol2023
37090937Novel <i>SERAC1</i> Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.Neurol Genet2023
36516086Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.N Engl J Med2023
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
36634413A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Neuromuscul Disord2023
36264506Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.Acta Neuropathol2023
34164833A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.Neuropathol Appl Neurobiol2022
35728440Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C &gt; T (p.Arg39Ter) variant in the ACTA1 gene.Stem Cell Res2022
35728439Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C &gt; A (p.Ala172Glu) variant in the ACTA1 gene.Stem Cell Res2022
35460079Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.J Inherit Metab Dis2022
35485770Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.Hum Mutat2022
35810298Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.Acta Neuropathol Commun2022
36579509The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.J Pers Med2022
35962550Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.Neuropathol Appl Neurobiol2022
36233295Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.Int J Mol Sci2022
35926322The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.Mol Genet Metab2022
36294838Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.J Pers Med2022
33907316Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.Eur J Hum Genet2022
35245110Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.Sci Adv2022
35168887Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.Genet Med2022
32678339Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").Eur J Hum Genet2021
33740643Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C &gt; A (p.Arg183Ser) variant in the ACTA1 gene.Stem Cell Res2021
33565183Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.Hum Mutat2021
33841129Novel <i><i>STMN2</i></i> Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype.Front Aging Neurosci2021
34736628Genetic neuromuscular disorders: what is the best that we can do?Neuromuscul Disord2021
34551826Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.Skelet Muscle2021
34388489Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G&gt;A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.Stem Cell Res2021
34344887Haploinsufficiency of SF3B2 causes craniofacial microsomia.Nat Commun2021
33288880Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.Genet Med2021
33060286Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.J Med Genet2021
31511858Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.Hum Mol Genet2020
31774570International perspectives on the implementation of reproductive carrier screening.Prenat Diagn2020
31952901Cylindrical spirals in two families: Clinical and genetic investigations.Neuromuscul Disord2020
32040566Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.Brain2020
32066503Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.Acta Neuropathol Commun2020
32093627High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.BMC Ophthalmol2020
33144514The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>.Neurology2020
33103729A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.Brain2020
33004807Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.Nat Commun2020
32997275The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Mol Diagn Ther2020
32934225NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.Nat Commun2020
32851396A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.Brain2020
32819427Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.Acta Neuropathol Commun2020
32153140Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.Ann Clin Transl Neurol2020
32179706A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy.J Med Genet2020
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Broad Institute of MIT and Harvard
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Co-authored papers 12
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Co-authored papers 6
King Edward Memorial Hospital
Co-authored papers 6
Institute of Genetic Medicine, International Centre for Life
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Co-authored papers 5
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
Co-authored papers 5
QEII Medical Centre
Co-authored papers 5
King Edward Memorial Hospital
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Harvard Medical School.
Co-authored papers 4
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Co-authored papers 4
The University of Notre Dame Australia
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Princess Margaret Hospital
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