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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Brain (London, England : 1878), 2022-09, Vol.145 (9), p.3095-3107

2022

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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Brain (London, England : 1878), 2017-03, Vol.140 (3), p.547-554

2017

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Further defining the phenotypic spectrum of B4GALT7 mutations

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1556-1563

2016

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Brain (London, England : 1878), 2021-12, Vol.144 (12), p.3597-3610

2021

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MNS1 variant associated with situs inversus and male infertility

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.50-55

2020

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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

BMC ophthalmology, 2024-08, Vol.24 (1), p.345-12

2024

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Low uptake of Aboriginal interpreters in healthcare: exploration of current use in Australia's Northern Territory

BMC health services research, 2017-11, Vol.17 (1), p.733-733, Article 733

2017

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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

Parkinsonism & related disorders, 2021-01, Vol.82, p.84-86

2021

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How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study

Familial cancer, 2018-01, Vol.17 (1), p.155-166

2018

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Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.1017-1022

2016

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Delineating the expanding phenotype associated with SCAPER gene mutation

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1665-1671

2019

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2838-2850

2017

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Neurology. Genetics, 2018-04, Vol.4 (2), p.e222-e222

2018

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Health and climate change: adaptation policy in Aotearoa New Zealand

The Lancet regional health. Western Pacific, 2023-11, Vol.40, p.100954-100954, Article 100954

2023

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014

2020

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Speech-language pathology and ethical practice in global contexts

International journal of speech language pathology, 2021-02, Vol.23 (1), p.15-25

2021

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Prevalence and profile of Neurodevelopment and Fetal Alcohol Spectrum Disorder (FASD) amongst Australian Aboriginal children living in remote communities

Research in developmental disabilities, 2017-06, Vol.65, p.114-126

2017

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Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: The Lililwan Project

Journal of paediatrics and child health, 2015-04, Vol.51 (4), p.450-457

2015

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Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1129-1129

2020

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The Lililwan Project: study protocol for a population-based active case ascertainment study of the prevalence of fetal alcohol spectrum disorders (FASD) in remote Australian Aboriginal communities

BMJ open, 2012-01, Vol.2 (3), p.e000968

2012

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Prevalence of fetal alcohol syndrome in a population‐based sample of children living in remote A ustralia: The L ililwan Project

Journal of paediatrics and child health, 2015-04, Vol.51 (4), p.450-457

2015

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After ‘Unit 1421’: an exploratory study into female students' attitudes and behaviours towards binge drinking at Leeds University

Journal of public health (Oxford, England), 2008-03, Vol.30 (1), p.8-13

2008

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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

Parkinsonism & related disorders, 2021, Vol.82, p.84-86

2021

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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Further defining the phenotypic spectrum of B4GALT7 mutations

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

MNS1 variant associated with situs inversus and male infertility

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

Low uptake of Aboriginal interpreters in healthcare: exploration of current use in Australia's Northern Territory

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Delineating the expanding phenotype associated with SCAPER gene mutation

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Health and climate change: adaptation policy in Aotearoa New Zealand

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Speech-language pathology and ethical practice in global contexts

Prevalence and profile of Neurodevelopment and Fetal Alcohol Spectrum Disorder (FASD) amongst Australian Aboriginal children living in remote communities

Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: The Lililwan Project

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

The Lililwan Project: study protocol for a population-based active case ascertainment study of the prevalence of fetal alcohol spectrum disorders (FASD) in remote Australian Aboriginal communities

Prevalence of fetal alcohol syndrome in a population‐based sample of children living in remote A ustralia: The L ililwan Project

After ‘Unit 1421’: an exploratory study into female students' attitudes and behaviours towards binge drinking at Leeds University

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform

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