Publications by authors named "Patrick Morrison"

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Multidisciplinary management of congenital ichthyosis with confetti: a case report of the clinical course and genetic diagnosis in a patient with a KRT10 mutation.
Fawad Aslam, Patrick J Morrison, Donal O'Kane

Clin Exp Dermatol· December 2025

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Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Susan Walker, David J Bunyan, Huw B Thomas, Yesim Kesim, Christopher J Kershaw, Patrick J Morrison

Genet Med· September 2025

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Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.
Nasim Mavaddat, Debra Frost, Emily Zhao, Daniel R Barnes, Munaza Ahmed, Patrick J Morrison

Breast Cancer Res· May 2025

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Clinical management and outcome of head and neck paragangliomas (HNPGLs): A single centre retrospective study.
Milad Darrat, Louis Lau, Colin Leonard, Stephen Cooke, Muhammad A Shahzad, Patrick J Morrison

Clin Endocrinol (Oxf)· September 2024

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Patrick J Morrison

Mov Disord· January 2024

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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Sunwoo Lee, Lara Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Patrick J Morrison

Hum Mol Genet· November 2023

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Autosomal dominant inheritance with sex-limited manifestation: The jury is still out.
Patrick J Morrison

Am J Med Genet A· June 2023

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Correction: Aboriginal artefacts on the continental shelf reveal ancient drowned cultural landscapes in northwest Australia.
Jonathan Benjamin, Michael O'Leary, Jo McDonald, Chelsea Wiseman, John McCarthy, Patrick Morrison

PLoS One· June 2023

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Effective coordination, collaboration, communication, and partnering are needed to close the gaps for occupational PFAS exposure.
Susan M Moore, Carol Brown, Meghan Kiederer, Miriam M Calkins, Jeffery L Burgess, Patrick Morrison

Am J Ind Med· May 2023

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The dysmorphic phenotype in vascular Ehlers Danlos syndrome.
James R Lyness, Patrick J Morrison

Clin Dysmorphol· January 2023

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Sebaceous Carcinoma Arising in Ovarian Teratoma: First Report Associated With Germline Mismatch Repair Gene Mutation.
Jacinta Murray, Patrick McIlwaine, Patrick J Morrison, W Glenn McCluggage

Int J Gynecol Pathol· November 2022

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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Pål Møller, Toni Seppälä, James G Dowty, Saskia Haupt, Mev Dominguez-Valentin, Patrick J Morrison

Hered Cancer Clin Pract· October 2022

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Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up.
John C Mathers, Faye Elliott, Finlay Macrae, Jukka-Pekka Mecklin, Gabriela Möslein, Patrick J Morrison

Cancer Prev Res (Phila)· September 2022

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SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Sophie T Williams, Prodromos Chatzikyriakou, Paul V Carroll, Barbara M McGowan, Anand Velusamy, Patrick J Morrison

Clin Endocrinol (Oxf)· April 2022

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Daniel R Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Patrick J Morrison

J Natl Cancer Inst· January 2022

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Genetic defects are common in myopathies with tubular aggregates.
Qiang Gang, Conceição Bettencourt, Stefen Brady, Janice L Holton, Estelle G Healy, Patrick J Morrison

Ann Clin Transl Neurol· January 2022

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Lifelong lessons in learning: definition of a GP and a specialist.
Patrick J Morrison

BMJ· September 2021

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A proximal 300kb deletion further defining critical regions in 4q25 syndrome.
Mairead Hegarty, Patrick J Morrison

Clin Dysmorphol· July 2021

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Prostate Cancer Risk by BRCA2 Genomic Regions.
Tommy Nyberg, Debra Frost, Daniel Barrowdale, D Gareth Evans, Elizabeth Bancroft, Patrick J Morrison

Eur Urol· October 2020

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Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Fatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, Patrick J Morrison, Evren Gumus

Hum Mutat· September 2020

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Aboriginal artefacts on the continental shelf reveal ancient drowned cultural landscapes in northwest Australia.
Jonathan Benjamin, Michael O'Leary, Jo McDonald, Chelsea Wiseman, John McCarthy, Patrick Morrison

PLoS One· September 2020

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Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.
Patrick J Morrison, Anna Znaczko, Mattias Jansson

Am J Med Genet A· September 2020

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Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
John Burn, Harsh Sheth, Faye Elliott, Lynn Reed, Finlay Macrae, Patrick J Morrison

Lancet· June 2020

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A quick reference guide for rare disease: supporting rare disease management in general practice.
Ashleen Crowe, Helen McAneney, Patrick J Morrison, Margaret E Cupples, Amy Jayne McKnight

Br J Gen Pract· May 2020

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Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.
Claire W Kirk, Deirdre E Donnelly, Rachel Hardy, Charles W Shepherd, Patrick J Morrison

Ulster Med J· January 2020

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