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

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910

2020

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

American journal of human genetics, 2013-08, Vol.93 (2), p.384-389

2013

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

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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

BMC ophthalmology, 2020-02, Vol.20 (1), p.68-68, Article 68

2020

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

Annals of clinical and translational neurology, 2020-03, Vol.7 (3), p.353-362

2020

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Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

Human mutation, 2009, Vol.30 (1), p.22-28

2009

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

Journal of medical genetics, 2021-09, Vol.58 (9), p.609-618

2021

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

Science advances, 2022-03, Vol.8 (9), p.eabm5386-eabm5386

2022

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

Muscle & nerve, 2017-01, Vol.55 (1), p.E2-E3

2017

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A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Human molecular genetics, 2023-03, Vol.32 (7), p.1127-1136

2023

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

American journal of human genetics, 2019-09, Vol.105 (3), p.573-587

2019

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

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2851-2859

2017

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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

American journal of human genetics, 2013-07, Vol.93 (1), p.6-18

2013

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

Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.674-691

2016

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Dosing of PD-1 and PD-L1 inhibitors: Cost saving initiatives for significantly decreasing associated expenditure

Journal of oncology pharmacy practice, 2021-01, Vol.27 (1), p.199-204

2021

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

Seminars in cell & developmental biology, 2017-04, Vol.64, p.160-170

2017

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A stepwise, ‘test-all-positives’ methodology to assess gluten-kernel contamination at the serving-size level in gluten-free (GF) oat production

Food chemistry, 2018-02, Vol.240, p.391-395

2018

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

Human mutation, 2018-03, Vol.39 (3), p.383-388

2018

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A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease

Neuropathology and applied neurobiology, 2022-02, Vol.48 (1), p.e12743-n/a

2022

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Clinical utility gene card for: nemaline myopathy

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.713-713

2012

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

American journal of human genetics, 2022-11, Vol.109 (11), p.1960-1973

2022

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

Cerebellum (London, England), 2024-02, Vol.23 (1), p.268-277

2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature genetics, 2024-03, Vol.56 (3), p.395-407

2024

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

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

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

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

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

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping

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

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

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

A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

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

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

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

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

Dosing of PD-1 and PD-L1 inhibitors: Cost saving initiatives for significantly decreasing associated expenditure

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

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

A stepwise, ‘test-all-positives’ methodology to assess gluten-kernel contamination at the serving-size level in gluten-free (GF) oat production

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

A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease

Clinical utility gene card for: nemaline myopathy

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

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

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

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