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A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing

Journal of genetic counseling, 2021-04, Vol.30 (2), p.563-573

2021

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Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

British journal of haematology, 2023-04, Vol.201 (1), p.25-34

2023

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KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management

The oncologist (Dayton, Ohio), 2022-08, Vol.27 (8), p.615-620

2022

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Clinical use of the Oncotype DX genomic test to guide treatment decisions for patients with invasive breast cancer

Breast cancer targets and therapy, 2017-01, Vol.9, p.393-400

2017

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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review

Familial cancer, 2023-04, Vol.22 (2), p.167-175

2023

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Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT)

British journal of haematology, 2023-04, Vol.201 (1), p.35-44

2023

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Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations

The American journal of surgical pathology, 2020-06, Vol.44 (6), p.738

2020

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Sleep disordered breathing in children with Down syndrome in the Republic of Ireland

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2847-2856

2020

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A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer

Lung cancer (Amsterdam, Netherlands), 2022-03, Vol.165, p.34-42

2022

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Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer

European urology open science (Online), 2023-06, Vol.52, p.72-78

2023

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Postgraduate training in Cancer Genetics—a cross-specialty survey exploring experience of clinicians in Ireland

Irish journal of medical science, 2022-06, Vol.191 (3), p.1427-1434

2022

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Non-invasive Technology Advances in Cancer—A Review of the Advances in the Liquid Biopsy for Endometrial and Ovarian Cancers

Frontiers in digital health, 2020-12, Vol.2, p.573010-573010

2020

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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Neurobiology of aging, 2021-10, Vol.106, p.343.e1-343.e8

2021

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Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

Familial cancer, 2022-07, Vol.21 (3), p.363-368

2022

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Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome

Familial cancer, 2022-07, Vol.21 (3), p.357-362

2022

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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Journal of medical genetics, 2024-03, Vol.61 (4), p.305

2024

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UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

Journal of medical genetics, 2023-02, Vol.60 (2), p.107

2023

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Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans

Clinical cancer research, 2020-01, Vol.26 (2), p.391-396

2020

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Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance

Irish journal of medical science, 2024-08, Vol.193 (4), p.1775-1785

2024

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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

Journal of medical genetics, 2023-07, Vol.60 (7), p.669

2023

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Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia

Clinical dysmorphology, 2015-10, Vol.24 (4), p.135

2015

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Effectiveness of contrast-associated acute kidney injury prevention methods; a systematic review and network meta-analysis

BMC nephrology, 2018-11, Vol.19 (1), p.323-323, Article 323

2018

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Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.976-984

2016

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A Review of Breast Cancer Risk Factors in Adolescents and Young Adults

Cancers, 2021-11, Vol.13 (21), p.5552

2021

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Teaching Radiology to Medical Students—There Is a Need for Change to Better Prepare Students for Clinical Practice

Academic radiology, 2017-04, Vol.24 (4), p.506-513

2017

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A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing

Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management

Clinical use of the Oncotype DX genomic test to guide treatment decisions for patients with invasive breast cancer

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review

Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations

Sleep disordered breathing in children with Down syndrome in the Republic of Ireland

A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer

Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer

Postgraduate training in Cancer Genetics—a cross-specialty survey exploring experience of clinicians in Ireland

Non-invasive Technology Advances in Cancer—A Review of the Advances in the Liquid Biopsy for Endometrial and Ovarian Cancers

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia

Effectiveness of contrast-associated acute kidney injury prevention methods; a systematic review and network meta-analysis

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

A Review of Breast Cancer Risk Factors in Adolescents and Young Adults

Teaching Radiology to Medical Students—There Is a Need for Change to Better Prepare Students for Clinical Practice

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