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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Nature genetics, 2017-03, Vol.49 (3), p.457-464

2017

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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Journal of translational medicine, 2023-04, Vol.21 (1), p.282-282, Article 282

2023

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Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling?

Genetics in medicine, 2011-11, Vol.13 (11), p.933-941

2011

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Aligning intuition and theory: enhancing the replicability of behaviour change interventions in cancer genetics

Implementation science communications, 2020-10, Vol.1 (1), p.90-90, Article 90

2020

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Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

PloS one, 2014, Vol.9 (1), p.e86836

2014

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Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

Genetics in medicine, 2017-12, Vol.19 (12), p.1323-1331

2017

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Breast and ovarian cancer referrals to the ACT Genetic Service: are we meeting guidelines?

Internal medicine journal, 2017-03, Vol.47 (3), p.311-317

2017

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Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature

British journal of haematology, 2023-11, Vol.203 (3), p.481-484

2023

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

Genetics in medicine, 2022-01, Vol.24 (1), p.130-145

2022

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A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer

Journal of genetic counseling, 2017-04, Vol.26 (2), p.283-299

2017

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Women’s Experience of Telehealth Cancer Genetic Counseling

Journal of genetic counseling, 2010-10, Vol.19 (5), p.463-472

2010

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Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122AG Is a Pathogenic Mutation

PloS one, 2014-01, Vol.9 (1), p.e86836

2014

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Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122AG

PloS one, 2014-01, Vol.9 (1), p.e86836

2014

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Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Molecular carcinogenesis, 2015-07, Vol.54 (7), p.513-522

2015

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Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2 : Use of potential alternative start sites and implications for predicting variant pathogenicity: VARIANTS DISRUPTING TRANSLATION INITIATION

Molecular carcinogenesis, 2015-07, Vol.54 (7), p.513-522

2015

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Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities

Developmental medicine and child neurology, 2004-04, Vol.46 (4), p.230-238

2004

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Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

Prenatal diagnosis, 1999-12, Vol.19 (12), p.1165-1168

1999

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Neuropsychological functioning in children with early‐treated phenylketonuria: impact of white matter abnormalities

Developmental medicine and child neurology, 2004-04, Vol.46 (4), p.230-238

2004

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Early versus Late Range of Motion following Cubital Tunnel Surgery

Journal of hand therapy, 1995-10, Vol.8 (4), p.245-248

1995

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Gene Flow, Invasiveness, and Ecological Impact of Genetically Modified Crops

Annals of the New York Academy of Sciences, 2009-06, Vol.1168 (1), p.72-99

2009

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A two-decade comparison of prevalence of dementia in individuals aged 65 years and older from three geographical areas of England: results of the Cognitive Function and Ageing Study I and II

The Lancet (British edition), 2013-10, Vol.382 (9902), p.1405-1412

2013

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The sounds of science-a symphony for many instruments and voices

Physica scripta, 2020-06, Vol.95 (6), p.62501

2020

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Long-term Follow-up Care for Childhood, Adolescent, and Young Adult Cancer Survivors

Pediatrics (Evanston), 2021-09, Vol.148 (3), p.1

2021

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Using systematic conservation planning to align priority areas for biodiversity and nature-based activities in marine spatial planning: A real-world application in contested marine space

Biological conservation, 2022-07, Vol.271, p.109574, Article 109574

2022

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Biogeochemical and climate drivers of wetland phosphorus and nitrogen release: Implications for nutrient legacies and eutrophication risk

Journal of environmental quality, 2020-11, Vol.49 (6), p.1703-1716

2020

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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling?

Aligning intuition and theory: enhancing the replicability of behaviour change interventions in cancer genetics

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

Breast and ovarian cancer referrals to the ACT Genetic Service: are we meeting guidelines?

Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature

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

A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer

Women’s Experience of Telehealth Cancer Genetic Counseling

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122AG Is a Pathogenic Mutation

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122AG

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2 : Use of potential alternative start sites and implications for predicting variant pathogenicity: VARIANTS DISRUPTING TRANSLATION INITIATION

Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

Neuropsychological functioning in children with early‐treated phenylketonuria: impact of white matter abnormalities

Early versus Late Range of Motion following Cubital Tunnel Surgery

Gene Flow, Invasiveness, and Ecological Impact of Genetically Modified Crops

A two-decade comparison of prevalence of dementia in individuals aged 65 years and older from three geographical areas of England: results of the Cognitive Function and Ageing Study I and II

The sounds of science-a symphony for many instruments and voices

Long-term Follow-up Care for Childhood, Adolescent, and Young Adult Cancer Survivors

Using systematic conservation planning to align priority areas for biodiversity and nature-based activities in marine spatial planning: A real-world application in contested marine space

Biogeochemical and climate drivers of wetland phosphorus and nitrogen release: Implications for nutrient legacies and eutrophication risk

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