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Author Details

Patrick J Morrison
Belfast City Hospital
1989
245
51
PMIDPaper TitleJournal TitlePublished Year
36503916The dysmorphic phenotype in vascular Ehlers Danlos syndrome.Clin Dysmorphol2023
37089086Autosomal dominant inheritance with sex-limited manifestation: The jury is still out.Am J Med Genet A2023
37166351Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Hum Mol Genet2023
37067523Cutis verticis gyrata due to a novel NPR2 variant.QJM2023
34320204Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.J Natl Cancer Inst2022
36122798Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.Ann Oncol2022
35878732Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up.Cancer Prev Res (Phila)2022
34908252Genetic defects are common in myopathies with tubular aggregates.Ann Clin Transl Neurol2022
35077082Sebaceous Carcinoma Arising in Ovarian Teratoma: First Report Associated With Germline Mismatch Repair Gene Mutation.Int J Gynecol Pathol2022
34558728SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.Clin Endocrinol (Oxf)2022
34016808A proximal 300kb deletion further defining critical regions in 4q25 syndrome.Clin Dysmorphol2021
34531251Lifelong lessons in learning: definition of a GP and a specialist.BMJ2021
34273670Zonisamide safety in pregnancy: Data from the UK and Ireland epilepsy and pregnancy register.Seizure2021
31495749Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.Eur Urol2020
32022473Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.J Pathol Clin Res2020
31721007Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.Cerebellum2020
31943436Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.Genes Chromosomes Cancer2020
32579715Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.Hum Mutat2020
32648279Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.Am J Med Genet A2020
32218621Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2.Ulster Med J2020
32211515<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonism.Neurol Genet2020
32354833A quick reference guide for rare disease: supporting rare disease management in general practice.Br J Gen Pract2020
32532514Prostate Cancer Risk by BRCA2 Genomic Regions.Eur Urol2020
30445560Association of prolactin receptor (PRLR) variants with prolactinomas.Hum Mol Genet2019
30060119Aetiology of Eagle syndrome: ossification of the stylohyoid ligament.QJM2019
31197033Mapping proprioceptive function using corticokinematic coherence in ataxias.Neurology2019
31595976Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.Cochrane Database Syst Rev2019
31073251BIRTH RATE MAY INCREASE NINE MONTHS AFTER NATIONAL FOOTBALL SUCCESS.Ulster Med J2019
30985307Phenotypic delineation of a 12q21 deletion syndrome.Clin Dysmorphol2019
30312457Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.J Natl Cancer Inst2019
28863001Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome.Clin Dysmorphol2018
29867264Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.Ulster Med J2018
29891056Spinocerebellar ataxias.Handb Clin Neurol2018
30873510The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With <i>BRCA1</i> or <i>BRCA2</i> Mutations.JNCI Cancer Spectr2018
30273087Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin.Fetal Pediatr Pathol2018
29388329Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.Am J Med Genet A2018
29472431Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes.Diabetes Care2018
29386252Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>.J Med Genet2018
29743206Ameliorating the age at onset and disease progression in Huntington disease.Neurology2018
29661925Changing antiepilepsy drug-prescribing trends in women with epilepsy in the UK and Ireland and the impact on major congenital malformations.J Neurol Neurosurg Psychiatry2018
29565421Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.Genet Med2018
29327300Cantú syndrome with coexisting familial pituitary adenoma.Endocrine2018
29095566Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.Am J Med Genet B Neuropsychiatr Genet2018
27072775Zygodactyly is strongly associated with Acute Myeloid Leukaemia.Br J Haematol2017
28334938Clinical and genetic characterization of leukoencephalopathies in adults.Brain2017
29581631Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.Ulster Med J2017
27650164Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.Hum Mutat2017
26081173Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care.Clin Genet2016
27601767Learning And Improvement In Hereditary Diseases: Altnagelvin Hospital, Londonderry, 3rd December 2015.Ulster Med J2016
27317279How common is tuberous sclerosis complex?Br J Dermatol2016
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Collaborators

Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
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Douglas F Easton
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Rosalind A Eeles
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Co-authored papers 24
Jan Lubinski
Pomeranian Medical University
Co-authored papers 17
Katherine L Nathanson
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Co-authored papers 16
Fergus J Couch
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Irene L Andrulis
University of Toronto
Co-authored papers 16
Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
Co-authored papers 16
Javier Ben??tez
Instituto de Salud Carlos III
Co-authored papers 15
Susan M Domchek
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Ana Osorio
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre
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Paolo Radice
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David E Goldgar
University of Utah
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Amanda B Spurdle
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Siranoush Manoukian
Fondazione IRCCS Istituto Nazionale dei Tumori
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Mary Beth Terry
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Sue Healey
QIMR Berghofer Medical Research Institute
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Timothy R Rebbeck
Center for Cancer Equity and Engagement, Dana-Farber/Harvard Cancer Center
Co-authored papers 13
Esther M John
Co-authored papers 12
Noralane M Lindor
Mayo Clinic
Co-authored papers 11
Beth Y Karlan
David Geffen School of Medicine, University of California los angeles
Co-authored papers 11
Jacek Gronwald
International Hereditary Cancer Center, Pomeranian Medical University
Co-authored papers 10
Jenny Chang-Claude
German Cancer Research Center (DKFZ)
Co-authored papers 9
Marcy E MacDonald
Co-authored papers 9
James F Gusella
Co-authored papers 9
Richard H Myers
Co-authored papers 9
Michael R Hayden
Co-authored papers 9
Judy E Garber
Dana-Farber Cancer Institute
Co-authored papers 8
Claudine Isaacs
Co-authored papers 8
Susan J Ramus
School of Clinical Medicine, University of NSW Sydney, Lowy Cancer Research Centre
Co-authored papers 8
Release 1.2