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Author Details

Mark R Davis
QEII Medical Centre, Hospital Avenue
1996
86
32
PMIDPaper TitleJournal TitlePublished Year
36696030Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.Cerebellum2024
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
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
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
35803560Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.Eur J Med Genet2022
36579509The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.J Pers Med2022
36332611Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.Am J Hum Genet2022
35962550Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.Neuropathol Appl Neurobiol2022
35948506A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.Neuromuscul Disord2022
35245110Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.Sci Adv2022
33990165Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer Centre.J Oncol Pharm Pract2022
32678339Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").Eur J Hum Genet2021
34344887Haploinsufficiency of SF3B2 causes craniofacial microsomia.Nat Commun2021
33977140WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.Neurol Genet2021
33060286Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.J Med Genet2021
33215561Dosing of PD-1 and PD-L1 inhibitors: Cost saving initiatives for significantly decreasing associated expenditure.J Oncol Pharm Pract2021
32179706A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy.J Med Genet2020
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
33103729A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.Brain2020
32997275The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Mol Diagn Ther2020
32906196Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.Hum Mutat2020
32778822Genotype-phenotype correlations in recessive titinopathies.Genet Med2020
32153140Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.Ann Clin Transl Neurol2020
31130376Recessive MYH7-related myopathy in two families.Neuromuscul Disord2019
31706698Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.Neuromuscul Disord2019
31209093Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.BMJ Open2019
31447096Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.Am J Hum Genet2019
29266598Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.Hum Mutat2018
30129428STRetch: detecting and discovering pathogenic short tandem repeat expansions.Genome Biol2018
29959180Genetics of neuromuscular fetal akinesia in the genomics era.J Med Genet2018
30168660STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.Hum Mutat2018
29950440A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spine.Neurology2018
30584599Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a <i>MRE11</i> variant.Neurol Genet2018
29781137Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.Neurogastroenterol Motil2018
29670817Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.Brain Behav2018
29499166Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.Am J Hum Genet2018
29498452Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.Eur J Neurol2018
29695755Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).Eur J Hum Genet2018
29691892Congenital Titinopathy: Comprehensive characterization and pathogenic insights.Ann Neurol2018
29467387Clinical Utility Gene Card for: Becker muscular dystrophy.Eur J Hum Genet2018
29371640Clinical utility gene card for McArdle disease.Eur J Hum Genet2018
29330543CUGC for Duchenne muscular dystrophy (DMD).Eur J Hum Genet2018
27519468New era in genetics of early-onset muscle disease: Breakthroughs and challenges.Semin Cell Dev Biol2017
28424332Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Sci Transl Med2017
29152331Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.NPJ Genom Med2017
29053766TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.Brain2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
28554554Expanding the phenotypic spectrum associated with mutations of DYNC1H1.Neuromuscul Disord2017
27421963Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.Muscle Nerve2017
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Collaborators

Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
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Kathryn N North
Murdoch Children's Research Institute
Co-authored papers 13
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 12
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 10
Monkol Lek
Co-authored papers 7
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 6
Kym Mina
QEII Medical Centre
Co-authored papers 6
Beryl B Cummings
Co-authored papers 5
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 4
Alan H Beggs
Broad Institute of MIT and Harvard
Co-authored papers 4
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
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Jennie Slee
King Edward Memorial Hospital
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Cathy Kiraly-Borri
Princess Margaret Hospital
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Ben Weisburd
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John Beilby
University of Western Australia
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Anna Sarkozy
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Lyn Schofield
King Edward Memorial Hospital for Women Perth
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Ros Quinlivan
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
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Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Jamie L Marshall
Co-authored papers 3
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 3
Ariana Kariminejad
Clinical Genetics Deaprtment
Co-authored papers 3
Stephen W Reddel
Concord Repatriation General Hospital
Co-authored papers 3
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 3
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 3
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 3
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 3
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2
Taru Tukiainen
Co-authored papers 2
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 2
Release 1.2