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Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response

Translational oncology, 2021-01, Vol.14 (1), p.100905-100905, Article 100905

2021

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"Objectively terrifying": a qualitative study of youth's experiences of transitions out of child and adolescent mental health services at age 18

BMC psychiatry, 2020-04, Vol.20 (1), p.147-147, Article 147

2020

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

JNCI : Journal of the National Cancer Institute, 2013-06, Vol.105 (11), p.812-822

2013

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Engaging young people within a collaborative knowledge mobilization network: Development and evaluation

Health expectations : an international journal of public participation in health care and health policy, 2022-04, Vol.25 (2), p.617-627

2022

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Genetics in medicine, 2016-05, Vol.18 (5), p.483-493

2016

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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.502-508

2019

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Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

JCI insight, 2016-10, Vol.1 (17), p.e88766-e88766

2016

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Current evidence-based recommendations on investigating children with global developmental delay

Archives of disease in childhood, 2017-11, Vol.102 (11), p.1071-1076

2017

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Automatic Detection and Distinction of Retinal Vessel Bifurcations and Crossings in Colour Fundus Photography

Journal of imaging, 2018-01, Vol.4 (1), p.4

2018

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Desmoid tumour: rare presentation following neonatal lumbar puncture

Archives of disease in childhood. Fetal and neonatal edition, 2020-05, Vol.105 (3), p.298-298

2020

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WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2312-2320

2007

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Genomic testing in patients with renal disease

British journal of hospital medicine (London, England : 2005), 2023-07, Vol.84 (7), p.1-11

2023

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Engaging youth in research planning, design and execution: Practical recommendations for researchers

Health expectations : an international journal of public participation in health care and health policy, 2018-12, Vol.21 (6), p.944-949

2018

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Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

Neurogenetics, 2020-10, Vol.21 (4), p.305-308

2020

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2412 Monoallelic NEK8-related polycystic kidney disease in an Irish ADPKD cohort

Nephrology, dialysis, transplantation, 2024-05, Vol.39 (Supplement_1)

2024

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The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome

The Journal of craniofacial surgery, 2023-10, Vol.34 (7), p.1985-1988

2023

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Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

The Journal of craniofacial surgery, 2022-07, Vol.33 (5), p.1428-1430

2022

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Prioritizing core components of successful transitions from child to adult mental health care: a national Delphi survey with youth, caregivers, and health professionals

European child & adolescent psychiatry, 2022-11, Vol.31 (11), p.1739-1752

2022

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

American journal of human genetics, 2020-12, Vol.107 (6), p.1129-1148

2020

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Pathogenicity and selective constraint on variation near splice sites

Genome research, 2019-02, Vol.29 (2), p.159-170

2019

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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Nature genetics, 2013-08, Vol.45 (8), p.947-950

2013

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1421-1429

2023

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Movement disorders, 2024-01, Vol.39 (1), p.141-151

2024

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

Journal of anatomy, 2024-05

2024

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Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response

"Objectively terrifying": a qualitative study of youth's experiences of transitions out of child and adolescent mental health services at age 18

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Engaging young people within a collaborative knowledge mobilization network: Development and evaluation

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Mixed-methods study protocol for an evaluation of the mental health transition navigator model in child and adolescent mental health services: the Navigator Evaluation Advancing Transitions (NEAT) study

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

Current evidence-based recommendations on investigating children with global developmental delay

Automatic Detection and Distinction of Retinal Vessel Bifurcations and Crossings in Colour Fundus Photography

Desmoid tumour: rare presentation following neonatal lumbar puncture

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

Genomic testing in patients with renal disease

Engaging youth in research planning, design and execution: Practical recommendations for researchers

Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

2412 Monoallelic NEK8-related polycystic kidney disease in an Irish ADPKD cohort

The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis

Prioritizing core components of successful transitions from child to adult mental health care: a national Delphi survey with youth, caregivers, and health professionals

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Pathogenicity and selective constraint on variation near splice sites

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

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