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Genetic neuromuscular disorders: what is the best that we can do?

Neuromuscular disorders : NMD, 2021-10, Vol.31 (10), p.1081-1089

2021

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Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.79-87

2021

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Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

American journal of human genetics, 2015-06, Vol.96 (6), p.955-961

2015

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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1058-1060

2014

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

BMJ open, 2019-06, Vol.9 (6), p.e028209-e028209

2019

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

JAMA neurology, 2015-12, Vol.72 (12), p.1424

2015

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Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Human molecular genetics, 2013-12, Vol.22 (24), p.4978-4987

2013

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Impact of public health interventions for food allergy prevention on rates of infant anaphylaxis

Annals of allergy, asthma, & immunology, 2023-03, Vol.130 (3), p.347-354.e1

2023

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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Orphanet journal of rare diseases, 2015-11, Vol.10 (148), p.148-148, Article 148

2015

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Neurology, 2020-12, Vol.95 (24), p.e3163

2020

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Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Human molecular genetics, 2018-12, Vol.27 (24), p.4263-4272

2018

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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Annals of neurology, 2015-12, Vol.78 (6), p.982-994

2015

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Molecular Mechanism of Novel Deletions in TPM3 that cause a Hypercontractile Phenotype with Congenital Muscle Stiffness

Biophysical journal, 2016-02, Vol.110 (3), p.14a-15a

2016

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

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1846-1849

2014

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

Journal of personalized medicine, 2022-10, Vol.12 (11), p.1781

2022

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TPM 3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Annals of neurology, 2015-12, Vol.78 (6), p.982-994

2015

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Biomarkers of dietary energy restriction in women at increased risk of breast cancer

Cancer prevention research (Philadelphia, Pa.), 2009-08, Vol.2 (8), p.720-731

2009

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Genetic neuromuscular disorders: what is the best that we can do?

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

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

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

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

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

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Impact of public health interventions for food allergy prevention on rates of infant anaphylaxis

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Molecular Mechanism of Novel Deletions in TPM3 that cause a Hypercontractile Phenotype with Congenital Muscle Stiffness

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

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

TPM 3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Biomarkers of dietary energy restriction in women at increased risk of breast cancer

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