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The personal touch: does the communication method affect response to melanoma genetic risk?

British journal of dermatology (1951), 2019-06, Vol.180 (6), p.1288-1289

2019

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The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls

British journal of dermatology (1951), 2020-08, Vol.183 (2), p.357-366

2020

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Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

Pediatric diabetes, 2018-06, Vol.19 (4), p.656-662

2018

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Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

Clinical genetics, 2015-12, Vol.88 (6), p.550-557

2015

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COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

Clinical genetics, 2015-07, Vol.88 (1), p.49-55

2015

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Point mutation in p14ARF‐specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

British journal of dermatology (1951), 2018-04, Vol.178 (4), p.e263-e264

2018

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CDKN2A testing threshold in a high‐risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

Journal of the European Academy of Dermatology and Venereology, 2020-12, Vol.34 (12), p.e797-e798

2020

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Parkinsonism among Gaucher disease carriers

Journal of medical genetics, 2004-12, Vol.41 (12), p.937-940

2004

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Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause

Journal of assisted reproduction and genetics, 2017-10, Vol.34 (10), p.1367-1375

2017

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SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Neurology, 2004-08, Vol.63 (3), p.554-556

2004

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Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

Nature neuroscience, 2005-05, Vol.8 (5), p.594-596

2005

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Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Annals of neurology, 2005-03, Vol.57 (3), p.453-456

2005

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Turner syndrome: Four challenges across the lifespan

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.57-66

2005

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Genetic testing in Parkinson's disease

Movement disorders, 2005-01, Vol.20 (1), p.1-10

2005

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Genetic testing in Parkinson's disease

Movement disorders, 2005-07, Vol.20 (7), p.908-909

McInerney-Leo, Aideen

2005

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Truth-telling and Turner Syndrome: The Importance of Diagnostic Disclosure

The Journal of pediatrics, 2006, Vol.148 (1), p.102-107

2006

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Establishing a clinical sequencing program for lung cancer in a public hospital

Lung cancer (Amsterdam, Netherlands), 2019-01, Vol.127, p.S92-S92

2019

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BRCA1/2 testing in hereditary breast and ovarian cancer families II: Impact on relationships

American journal of medical genetics. Part A, 2005-03, Vol.133A (2), p.165-169

2005

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Prevalence of Parkinson's disease in populations of African ancestry: A review

Journal of the National Medical Association, 2004-07, Vol.96 (7), p.974-979

2004

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BRCA1/2 testing in hereditary breast and ovarian cancer families: Effectiveness of problem-solving training as a counseling intervention

American journal of medical genetics. Part A, 2004-10, Vol.130A (3), p.221-227

2004

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Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation

Neuro-degenerative diseases, 2007-01, Vol.4 (5), p.386-391

2007

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Point mutation in p14 ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

British journal of dermatology (1951), 2018-04, Vol.178 (4), p.e263

2018

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Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Yearbook of Paediatric Endocrinology, 2018-09

2018

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Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

The British journal of dermatology, 2018, Vol.178 (4), p.e263-e264

2018

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The emerging field of polygenic risk scores and perspective for use in clinical care

Human molecular genetics, 2020-10, Vol.29 (R2), p.R165-R176

2020

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The personal touch: does the communication method affect response to melanoma genetic risk?

The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls

Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

Point mutation in p14ARF‐specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

CDKN2A testing threshold in a high‐risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

Parkinsonism among Gaucher disease carriers

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Turner syndrome: Four challenges across the lifespan

Genetic testing in Parkinson's disease

Genetic testing in Parkinson's disease

Truth-telling and Turner Syndrome: The Importance of Diagnostic Disclosure

Establishing a clinical sequencing program for lung cancer in a public hospital

BRCA1/2 testing in hereditary breast and ovarian cancer families II: Impact on relationships

Prevalence of Parkinson's disease in populations of African ancestry: A review

BRCA1/2 testing in hereditary breast and ovarian cancer families: Effectiveness of problem-solving training as a counseling intervention

Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation

Point mutation in p14 ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

The emerging field of polygenic risk scores and perspective for use in clinical care

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