M. Davis

发表

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

N. Laing, A. Kariminejad, M. Salari, 2018, Neurology: Genetics.

Cerebral palsy is not a diagnosis: A case report of a novel atlastin‐1 mutation

D. Reddihough, M. Ryan, R. Leventer, 2016, Journal of paediatrics and child health.

Clinical utility gene card for: Nemaline myopathy – update 2015

N. Laing, C. Wallgren‐Pettersson, P. Lamont, 2015, European Journal of Human Genetics.

Clinical utility gene card for: Nemaline myopathy

N. Laing, C. Wallgren‐Pettersson, P. Lamont, 2012, European Journal of Human Genetics.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Beryl B. Cummings, D. MacArthur, B. Cummings, 2018, Human mutation.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

T. Neuhann, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

F. Mastaglia, C. Sue, K. Mina, 2010, Neuromuscular Disorders.

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

N. Laing, N. Voermans, M. Ryan, 2018, Brain and behavior.

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.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

D. Comas, N. Romero, N. Laing, 2018, Neurology.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

A. Schapira, G. Ravenscroft, N. Laing, 2016, Neuromuscular Disorders.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

P. Scuffham, J. Braithwaite, N. Laing, 2022, Journal of personalized medicine.

CUGC for Duchenne muscular dystrophy (DMD)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

G. Ravenscroft, E. Todd, N. Laing, 2014, American journal of medical genetics. Part A.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

D. MacArthur, M. Lek, A. Oshlack, 2017, bioRxiv.

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.

Clinical Utility Gene Card for: Becker muscular dystrophy

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Clinical utility gene card for: Laing distal myopathy

N. Laing, B. Udd, P. Lamont, 2011, European Journal of Human Genetics.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation

M. Kiernan, A. Krishnan, M. Davis, 2006, Clinical Neurophysiology.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

D. MacArthur, M. Lek, A. Oshlack, 2017, bioRxiv.

Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation

W. Huynh, M. Davis, M. Davis, 2017, Muscle & nerve.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.

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

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

A. Forrest, G. Ravenscroft, N. Laing, 2017, Seminars in cell & developmental biology.

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.

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.

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

G. Bydder, J. Allsop, E. Mercuri, 2004, 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.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype

N. Laing, J. Christodoulou, H. Leonard, 2003, American journal of medical genetics. Part A.

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

G. Ravenscroft, N. Laing, Mark R. Davis, 2020, Molecular Diagnosis & Therapy.

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.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

Mutation Analysis of MECP2 and Determination of the X-Inactivation Pattern in Hungarian Rett Syndrome Patients

A. Silahtaroglu, N. Laing, M. Schwartz, 2004 .

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Gareth Baynam, Jack Goldblatt, Lyn Schofield, 2015, American journal of medical genetics. Part A.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

G. Ravenscroft, N. Laing, A. Kariminejad, 2017, Brain : a journal of neurology.

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Belinda Phipson, Alicia Oshlack, Monkol Lek, 2018, Genome Biology.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Timo Lassmann, Gareth Baynam, Tarun Weeramanthri, 2016, Orphanet Journal of Rare Diseases.

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.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Brent S. Pedersen, H. Mefford, A. Quinlan, 2021, bioRxiv.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

G. Ravenscroft, N. Laing, M. Delatycki, 2017, Neuromuscular Disorders.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

N. Laing, M. Komatsu, A. Kornberg, 2020, Journal of Medical Genetics.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Gloria L. Porras-Hurtado, A. Drake, D. Chitayat, 2021, Nature Communications.

Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Beryl B. Cummings, D. MacArthur, L. Waddell, 2019, American journal of human genetics.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2021, Neurology: Genetics.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

D. MacArthur, E. Hoffman, M. Lek, 2016, Annals of neurology.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetics of neuromuscular fetal akinesia in the genomics era

G. Ravenscroft, N. Laing, C. Mclean, 2018, Journal of Medical Genetics.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

J. Christodoulou, A. Rotig, P. de Lonlay, 2013, Orphanet Journal of Rare Diseases.

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

L. Waddell, M. Ryan, M. Farrar, 2019, Neuromuscular Disorders.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

Expanding the phenotype of GMPPB mutations.

D. MacArthur, M. Lek, G. Ravenscroft, 2015, Brain : a journal of neurology.

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

Ira W. Deveson, G. Ravenscroft, N. Laing, 2021, medRxiv.

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Joshua S. Clayton, B. Weisburd, G. Ravenscroft, 2020, Brain : a journal of neurology.

Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

N. Laing, S. Wilton, S. Fletcher, 2011, The Clinical biochemist. Reviews.

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease

C. Sue, H. Vandebona, K. Ng, 2010, Muscle & nerve.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

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.

Health Service Use in Rett Syndrome

J. Christodoulou, H. Leonard, N. de Klerk, 2005, Journal of child neurology.

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou, Z. Stark, K. Rose, 2020, Human mutation.

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

P. Andersen, C. Gellera, M. Savontaus, 2001, European Journal of Human Genetics.

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

P. Panegyres, Ramesh K. Narayanan, M. Kennerson, 2023, Cerebellum.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Joshua Burns, Daniel G. MacArthur, Khurshid Alam, 2017, npj Genomic Medicine.

Use ofWhole-Exome Sequencing for Diagnosis of Limb-GirdleMuscular Dystrophy Outcomes and Lessons Learned

D. MacArthur, M. Lek, L. Waddell, 2015 .

Clinical Utility Gene Card for: Becker muscular dystrophy

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

J. Dowling, L. Waddell, N. Laing, 2013, Neuromuscular Disorders.

Clinical utility gene card for McArdle disease

T. Pinós, A. Brull, Rhonda L. Taylor, 2018, European Journal of Human Genetics.

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

J. Beilby, G. Ravenscroft, N. Laing, 2019, BMJ Open.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.

SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.

J. Burnett, B. Akıncı, A. Hooper, 2015, Clinica chimica acta; international journal of clinical chemistry.

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

Susan C. Brown, G. Bydder, E. Mercuri, 2002, Neurology.

Recessive MYH7-related myopathy in two families

G. Ravenscroft, C. Ottenheijm, N. Laing, 2019, Neuromuscular Disorders.

Refining the phenotype of common mutations in Rett syndrome

J Christodoulou, H Leonard, J. Christodoulou, 2004, Journal of Medical Genetics.

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

E. Hoffman, S. Subramony, N. Laing, 2000, Neurology.

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

G. Ravenscroft, N. Laing, R. Johnsen, 2022, Neuropathology and applied neurobiology.

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

B. Weisburd, G. Ravenscroft, N. Laing, 2023, Brain communications.

Central core disease: clinical, pathological, and genetic features

N. Laing, R. Quinlivan, C. Sewry, 2003, Archives of disease in childhood.

Late‐onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin‐containing protein

S. Vucic, K. Ng, R. Boland‐Freitas, 2016, Muscle & nerve.

Late‐onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin‐containing protein

S. Vucic, K. Ng, R. Boland‐Freitas, 2016, Muscle & nerve.

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.

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

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Liam G. Fearnley, B. Weisburd, M. Bahlo, 2023, medRxiv.

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.

CUGC for Duchenne muscular dystrophy (DMD)

N. Laing, M. Needham, D. Coote, 2018, European Journal of Human Genetics.