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N. Laing · SciRah

Researcher profile · Semantic Scholar

N. Laing

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N. Laing — researcher profile on SciRah

h-index: 69
Works: 402
Citations: 15K

Most-cited papers

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
D. Pellerin, M. Danzi, C. Wilke, M. Renaud +48 more
2022New England Journal of Medicine228 citations Open access
Semantic Scholar
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
A. Cortese, S. Tozza, Wai Y. Yau, Salvatore Rossi +38 more
2020Brain : a journal of neurology211 citations Open access
Semantic Scholar
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Igor Stevanovski, S. Chintalaphani, H. Gamaarachchi, James M. Ferguson +17 more
2021medRxiv161 citations Open access
Semantic Scholar
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Harriet Dashnow, Monkol Lek, B. Phipson, A. Halman +8 more
2018Genome Biology143 citations Open access
Semantic Scholar
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
E. Kirk, Royston Ong, K. Boggs, T. Hardy +23 more
2020European Journal of Human Genetics103 citations Open access
Semantic Scholar
International perspectives on the implementation of reproductive carrier screening
M. Delatycki, F. Alkuraya, A. Archibald, C. Castellani +12 more
2019Prenatal Diagnosis95 citations Open access
Semantic Scholar
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Paige B Martin, Yu Kigoshi-Tansho, R. Sher, G. Ravenscroft +24 more
2020Nature Communications89 citations Open access
Semantic Scholar
Haploinsufficiency of SF3B2 causes craniofacial microsomia
A. Timberlake, Ca Griffin, C. Heike, A. Hing +25 more
2021Nature Communications78 citations Open access
Semantic Scholar
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
S. Beecroft, A. Cortese, R. Sullivan, Wai Y. Yau +15 more
2020Brain : a journal of neurology68 citations Open access
Semantic Scholar
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
G. Ravenscroft, Joshua S. Clayton, Fathimath Faiz, P. Sivadorai +19 more
2020Journal of Medical Genetics66 citations Open access
Semantic Scholar
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
S. Sandaradura, A. Bournazos, A. Mallawaarachchi, B. Cummings +15 more
2018Human Mutation65 citations Open access
Semantic Scholar
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening
Royston Ong, Denise A. Howting, A. Rea, H. Christian +4 more
2018Journal of Medical Genetics52 citations Open access
Semantic Scholar
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
A. Archibald, B. McClaren, J. Caruana, E. Tutty +41 more
2022Journal of Personalized Medicine51 citations Open access
Semantic Scholar
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Y. Nilipour, S. Nafissi, A. E. Tjust, G. Ravenscroft +12 more
2018European Journal of Neurology46 citations Open access
Semantic Scholar
Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype
F. Theunissen, R. Anderton, F. Mastaglia, L. Flynn +15 more
2021Frontiers in Aging Neuroscience45 citations Open access
Semantic Scholar
Bi‐allelic mutations in MYL1 cause a severe congenital myopathy
G. Ravenscroft, I. Zaharieva, C. Bortolotti, M. Lambrughi +16 more
2018Human Molecular Genetics43 citations Open access
Semantic Scholar
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
S. Beecroft, K. Yau, R. Allcock, K. Mina +16 more
2020Annals of Clinical and Translational Neurology42 citations Open access
Semantic Scholar
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Richard G. Lee, M. Sedghi, M. Salari, A. Shearwood +7 more
2018Neurology: Genetics41 citations Open access
Semantic Scholar
Genetics of neuromuscular fetal akinesia in the genomics era
S. Beecroft, M. Lombard, D. Mowat, C. Mclean +4 more
2018Journal of Medical Genetics40 citations Open access
Semantic Scholar
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
M. Cabrera-Serrano, D. Coote, D. Azmanov, H. Goullée +11 more
2020Journal of Medical Genetics36 citations Open access
Semantic Scholar
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
Marta F. Nabais, Tian Lin, B. Benyamin, K. Williams +33 more
2020npj Genomic Medicine31 citations Open access
Semantic Scholar
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice
J. Tinklenberg, E. Siebers, M. Beatka, H. Meng +9 more
2018Human Molecular Genetics31 citations Open access
Semantic Scholar
Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
S. Bryen, H. Joshi, F. Evesson, Cyrille Girard +12 more
2019American Journal of Human Genetics29 citations Open access
Semantic Scholar
Recent advances in understanding congenital myopathies
G. Ravenscroft, R. Bryson-Richardson, K. Nowak, N. Laing
2018F1000Research29 citations Open access
Semantic Scholar
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Edith Bonnin, Pauline Cabochette, A. Filosa, Ramona Jühlen +22 more
2018PLoS Genetics29 citations Open access
Semantic Scholar
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
E. Servian-Morilla, M. Cabrera-Serrano, E. Rivas-Infante, A. Carvajal +12 more
2019Acta Neuropathologica Communications28 citations Open access
Semantic Scholar
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
C. Weihl, A. Töpf, R. Bengoechea, J. Duff +18 more
2022bioRxiv27 citations Open access
Semantic Scholar
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
J. Senderek, P. Laššuthová, D. Kabzińska, Lisa Abreu +53 more
2020Neurology27 citations Open access
Semantic Scholar
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
D. Osborn, L. Emrahi, Joshua S. Clayton, Mehrnoush Toufan Tabrizi +13 more
2020Genetics in Medicine27 citations Open access
Semantic Scholar
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
Restuadi Restuadi, F. Garton, B. Benyamin, Tian Lin +22 more
2021European Journal of Human Genetics25 citations Open access
Semantic Scholar
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
M. Cabrera-Serrano, L. Caccavelli, M. Savarese, A. Vihola +32 more
2021bioRxiv25 citations Open access
Semantic Scholar
Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.
J. Emery, M. Delatycki, N. Laing, Sarah Moore +3 more
2019Australian Journal of General Practice25 citations Open access
Semantic Scholar
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction
Gianina Ravenscroft, S. Pannell, G. O'Grady, Royston Ong +23 more
2018Neurogastroenterology and Motility24 citations Open access
Semantic Scholar
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy
A. Messineo, C. Gineste, Tamar E. Sztal, E. McNamara +8 more
2018Scientific Reports22 citations Open access
Semantic Scholar
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics
C. Scriba, Igor Stevanovski, S. Chintalaphani, H. Gamaarachchi +13 more
2023Brain Communications21 citations Open access
Semantic Scholar
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
M. Sedghi, A. Moslemi, M. Olivé, M. Etemadifar +6 more
2019Annals of Clinical and Translational Neurology20 citations Open access
Semantic Scholar
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
M. Olivé, M. Engvall, G. Ravenscroft, M. Cabrera-Serrano +40 more
2019Nature Communications19 citations Open access
Semantic Scholar
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
S. Beecroft, Marcos Ayala, G. McGillivray, Vikas Nanda +13 more
2021Human Mutation17 citations Open access
Semantic Scholar
Recessive MYH7-related myopathy in two families.
S. Beecroft, M. van de Locht, J. D. de Winter, C. Ottenheijm +12 more
2019Neuromuscular Disorders17 citations Open access
Semantic Scholar
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
M. Cabrera-Serrano, F. Mavillard, V. Biancalana, E. Rivas +18 more
2018Neurology17 citations Open access
Semantic Scholar
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
M. Sedghi, M. Salari, A. Moslemi, A. Kariminejad +5 more
2018Neurology: Genetics16 citations Open access
Semantic Scholar
Correspondence 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.
S. Righetti, L. Dive, A. Archibald, Lucinda Freeman +6 more
2022Genetics in Medicine14 citations Open access
Semantic Scholar
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
S. Beecroft, P. Lamont, S. Edwards, H. Goullée +3 more
2020Molecular Diagnosis & Therapy14 citations
Semantic Scholar
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
E. McNamara, R. Taylor, Joshua S. Clayton, H. Goullée +8 more
2019Human Molecular Genetics14 citations Open access
Semantic Scholar
A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus
D. Pellerin, G. D. Del Gobbo, M. Couse, E. Dolzhenko +18 more
2023bioRxiv13 citations Open access
Semantic Scholar
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
L. Dofash, G. Monahan, E. Servian-Morilla, E. Rivas +10 more
2022medRxiv13 citations Open access
Semantic Scholar
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report
Aisling Mc Glacken-Byrne, D. Prentice, Danial Roshandel, Michael R. Brown +6 more
2020BMC Ophthalmology13 citations Open access
Semantic Scholar
Expanded reproductive carrier screening—how can we do the most good and cause the least harm?
M. Delatycki, N. Laing, E. Kirk
2019European Journal of Human Genetics13 citations Open access
Semantic Scholar
Cylindrical spirals in two families: Clinical and genetic investigations.
S. Beecroft, M. Olivé, L. G. Quereda, M. P. Gallano +5 more
2019Neuromuscular Disorders12 citations Open access
Semantic Scholar
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
J. Gurgel-Giannetti, L. Souza, G. Yamamoto, Marina Belisario +14 more
2022International Journal of Molecular Sciences10 citations Open access
Semantic Scholar

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