P. Morrison

发表

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

Jane S. Paulsen, J. Mysore, M. MacDonald, 2003, American journal of human genetics.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

The iris – a window into the genetics of common and rare eye diseases

P. Morrison, 2010, The Ulster medical journal.

Genotype-phenotype analysis in X-linked Emery–Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

Juliet A. Ellis, J. Kendrick‐Jones, J. Whittaker, 1999, Neuromuscular Disorders.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Jiannis Ragoussis, Andrea H. Németh, David Buck, 2013, Brain : a journal of neurology.

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Peter L Choyke, Maria J Merino, W Marston Linehan, 2005, American journal of human genetics.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Rodney J Scott, Finlay Macrae, Annika Lindblom, 2011, The Lancet.

Germline FH mutations presenting with pheochromocytoma.

M. Simpson, R. Trembath, E. Gaude, 2014, The Journal of clinical endocrinology and metabolism.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

Mads Thomassen, Etienne Rouleau, Dieter Niederacher, 2010, Cancer research.

Genetic defects are common in myopathies with tubular aggregates

Zhaoxia Wang, Yun Yuan, J. Holton, 2021, Annals of clinical and translational neurology.

The decline in lung cancer and the genetics of nicotine addiction

P. Morrison, 2007, The Ulster medical journal.

The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS).

M O Leach, F J Gilbert, O W Quarrell, 2002, Journal of experimental & clinical cancer research : CR.

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study☆

R. Eeles, D. Easton, A. Antoniou, 2020, European urology.

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

Fiona Douglas, Louise Izatt, Patrick J Morrison, 2010, Human mutation.

Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

M. Korbonits, S. Akker, H. Storr, 2014, The Journal of clinical endocrinology and metabolism.

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

U. Srirangalingam, S. Chew, S. Hodgson, 2013, Clinical endocrinology.

Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group.

J. Chang-Claude, P. Møller, D. Eccles, 1998, European journal of cancer.

Current Policies for Surveillance and Management in Women at Risk for Breast and Ovarian Cancer: A Survey among 16 European Family Cancer Clinics

J. Chang-Claude, P. Møller, D. Eccles, 2002, Disease Markers.

Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing

P. Morrison, A. Warren, M. Tischkowitz, 2020, Genes, chromosomes & cancer.

Advances in the genetics of familial renal cancer.

A. Maxwell, A. Atkinson, P. Morrison, 2010, The oncologist.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

G. McVean, D. Buck, Lorna Gregory, 2012, Nature Genetics.

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland

P. Morrison, L. Devlin, C. Shepherd, 2006 .

An epidemiological, clinical and genetic survey of Neurofibromatosis type 1 in children under sixteen years of age

P. Morrison, C. Shepherd, H. Crawford, 2008, The Ulster medical journal.

Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status

R. Eeles, D. Easton, A. Antoniou, 2014, Cancer Epidemiology, Biomarkers & Prevention.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

R. Eeles, D. Evans, M. Watson, 2007, British Journal of Cancer.

Inherited gynaecological cancer syndromes

P. Morrison, L. Devlin, 2008 .

Edinburgh Research Explorer Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer

D. Bishop, R. Scott, A. Lindblom, 2022 .

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

P. Bolton, R. Appleton, F. Elmslie, 2019, Front. Neurol..

How common is tuberous sclerosis complex?

P. Morrison, D. Donnelly, 2016, The British journal of dermatology.

Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

S. McKee, P. Morrison, D. Donnelly, 2012, The oncologist.

Faciocutaneous cancer syndromes: spot the diagnosis.

P. Morrison, P. Ryan, 2012, The oncologist.

Insurance, unfair discrimination, and genetic testing

P. Morrison, 2005, The Lancet.

A survey of the current clinical facilities for the management of familial cancer in Europe

J. Chang-Claude, P. Møller, D. Eccles, 2000, Journal of medical genetics.

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

R. Eeles, D. Easton, A. Antoniou, 2018, Genetics in Medicine.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011, Breast Cancer Research.

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.

D. Bishop, R. Scott, D. Evans, 2008, The New England journal of medicine.

Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.

M. Dempster, J. Reid, P. Morrison, 2017, The Cochrane database of systematic reviews.

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

J. Hopper, E. John, D. Easton, 2018, JNCI cancer spectrum.

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer

R. Scott, A. Lindblom, J. Lubiński, 2016 .

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer

David Evans, R. Scott, D. Evans, 2016 .

DNA storage and duplicate sampling: lessons learnt from testing for Huntington's disease.

C. Graham, P. Morrison, N. Nevin, 1993, Journal of medical genetics.

Familial urothelial cell carcinoma of the bladder with autosomal dominant inheritance and late onset phenotype

P. Morrison, D. Donnelly, M. Loughrey, 2014, SpringerPlus.

Exploring the link between MORF4L1 and risk of breast cancer

S. Seal, N. Rahman, F. Couch, 2011 .

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

M. Nesbit, R. Thakker, S. Hunter, 2010, The Journal of clinical endocrinology and metabolism.

Paediatric and adult autosomal dominant ataxias (update 6).

P. Morrison, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Interventions to support female BRCA mutation carriers who have undergone risk reducing surgery - protocol

M. Dempster, J. Reid, P. Morrison, 2017 .

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

Utilisation of Prophylactic Mastectomy in 10 European Centres

M. Beckmann, J. Chang-Claude, P. Møller, 2002, Disease markers.

Family communication, genetic testing and colonoscopy screening in hereditary non‐polyposis colon cancer: a qualitative study

B. Bunting, P. Morrison, D. Macauley, 2009, Psycho-oncology.

Prostate Cancer Risk by BRCA2 Genomic Regions

R. Eeles, D. Easton, A. Antoniou, 2020, European urology.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up

R. Eeles, D. Evans, M. Watson, 2007, British Journal of Cancer.

Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.

C. Graham, P. Morrison, N. Nevin, 1993, Journal of medical genetics.

Significant linkage disequilibrium between the Huntington ' s disease locus and markers at loci D 4 S 1 O , D 4 S 95 , and D 4 S 111 in Northern Ireland

C. Graham, P. Morrison, N. Nevin, 2022 .

Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.

R. Godwin-Austen, P. Morrison, J. Raeburn, 1996, Journal of medical genetics.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

J. Connell, S. Pearce, M. Porteous, 2015, Human molecular genetics.

Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers

D. Eccles, E. Copson, A. McCrorie, 2019, medRxiv.

Edinburgh Research Explorer Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Panagiotis, P. Donnelly, M. McCarthy, 2018 .

Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.

D. Kwiatkowski, P. Morrison, I. Malinowska, 2012, The oncologist.

Accuracy of the clinical diagnosis of Down syndrome.

P. Morrison, L. Devlin, 2004, The Ulster medical journal.

Discordant repeat size and phenotype in Kennedy syndrome

P. Morrison, V. Patterson, M. Mirakhur, 1998, Clinical genetics.

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Aung Ko Win, M. Kloor, B. Bonanni, 2022, Hereditary Cancer in Clinical Practice.

Hereditary non-polyposis colon cancer.

P. Morrison, L. Devlin, J. Price, 2005, The Ulster medical journal.

Genetic aspects of familial thyroid cancer.

A. Atkinson, P. Morrison, 2009, The oncologist.

The RET Mutation E768D Confers a Late-onset Familial Medullary Thyroid Carcinoma – Only Phenotype with Incomplete Penetrance: Implications for Screening and Management of Carrier Status

S. Hunter, P. Morrison, T. Dabir, 2006, Familial Cancer.

Case 32-2007: bilateral breast cancer.

P. Morrison, 2008, The New England journal of medicine.

The clinical spectrum of the m.10191T>C mutation in complex I‐deficient Leigh syndrome

Robert W. Taylor, E. Crushell, P. Morrison, 2012, Developmental medicine and child neurology.

Cantú syndrome with coexisting familial pituitary adenoma

D. Bonthron, M. Korbonits, S. Hunter, 2018, Endocrine.

Familial pediatric endocrine tumors.

P. Morrison, D. Donnelly, L. Bradley, 2011, The oncologist.

Prevalence estimates of Huntington disease in Caucasian populations are gross underestimates

P. Morrison, 2012, Movement disorders : official journal of the Movement Disorder Society.

The dysmorphic phenotype in vascular Ehlers Danlos syndrome

P. Morrison, James R. Lyness, 2022, Clinical dysmorphology.

Genetic testing and insurance in the United Kingdom

P. Morrison, Pj Morrison, 1998, Clinical genetics.

Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype

Rebecca S. Moore, A. Sands, P. Morrison, 2017, The Ulster medical journal.

Exponential increase in the Huntington disease gene in a three-generation family

J. McMenamin, P. Morrison, N. Nevin, 1999 .

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

P. Morrison, N. Nevin, 1996, Journal of medical genetics.

The Symbolic Species: The Co-Evolution of Language and the Human Brain

Patrick Morrison, P. Morrison, 1999, BMJ.

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

P. Morrison, V. Mcconnell, T. Brown, 2003, Clinical dysmorphology.

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Meredith Wilson, K. North, V. McKelvey-Martin, 2015, Journal of Genetic Counseling.

Medical Myths and Legends

P. Morrison, 2018, The Ulster medical journal.

Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

B. Craig, P. Morrison, N. Nevin, 1992, American journal of medical genetics.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

Zygodactyly is strongly associated with Acute Myeloid Leukaemia

P. Morrison, A. Niblock, D. O. McConville, 2017, British Journal of Haematology.

Familial ossification of the stylohyoid ligament in a three generation family--a new clinical entity displaying autosomal dominant inheritance.

C. McKinstry, P. Morrison, R. J. Morrison, 2012, The British journal of radiology.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

N P Burrows, M Keefe, A. Rowan, 2003, Human molecular genetics.

Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

P. Morrison, P J Morrison, I J Carré, 1999, Gut.

Two recurrent mutations are associated with GNE myopathy in the North of Britain

K. Bushby, P. Chinnery, Hanns Lochmüller, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes

G. Archbold, P. Morrison, A. Lewis, 2018, Diabetes Care.

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Deborah Hughes, Nazneen Rahman, Elise Ruark, 2011, Nature Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

Diana Eccles, Susan Peock, Rosemarie Davidson, 2013, Journal of the National Cancer Institute.

AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study

R. Vierkant, T. Sellers, V. Pankratz, 2007, Cancer Epidemiology Biomarkers & Prevention.

AURKA F 31 I Polymorphism and Breast Cancer Risk in BRCA 1 and BRCA 2 Mutation Carriers : A Consortium of Investigators of Modifiers of BRCA 1 / 2 Study

R. Vierkant, T. Sellers, J. Olson, 2007 .

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

P. Morrison, V. Mcconnell, D. Donnelly, 2010, The Ulster medical journal.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Rachel M. Brown, M. Simpson, L. Mulligan, 2016, Human molecular genetics.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

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

D. Bishop, R. Scott, D. Evans, 2020, The Lancet.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

F. Faucz, C. Stratakis, I. Holm, 2014, The Journal of clinical endocrinology and metabolism.

Paediatric and adult ataxias (update).

P. Morrison, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.

D. Bishop, R. Scott, D. Evans, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Samuel Frank, Karen Marder, Christopher A. Ross, 2012, Human Genetics.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.

P. Morrison, N. Nevin, R. Tubman, 2000, American journal of medical genetics.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Katherine M. Tucker, W. Chung, R. Nussbaum, 2018, Journal of the National Cancer Institute.

Maximising survival: the main concern of women with hereditary breast and ovarian cancer who undergo genetic testing for BRCA1/2.

E. McCaughan, P. Morrison, D. Fitzsimons, 2014, European journal of oncology nursing : the official journal of European Oncology Nursing Society.

Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort

R. Eeles, D. Evans, M. Watson, 2004, British Journal of Cancer.

Breast cancer genetics: Unsolved questions and open perspectives in an expanding clinical practice

M. Irving, S. Hodgson, P. Morrison, 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort.

S. Ashley, R. Eeles, D. Evans, 2004, Genetic testing.

Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort

R. Eeles, D. Evans, M. Watson, 2002, British Journal of Cancer.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Joshua M. Korn, M. Daly, D. Altshuler, 2011, Human Genetics.

Age at onset in Huntington's disease and methylation at D4S95.

W. Reik, A. Harding, E. Maher, 1993, Journal of medical genetics.

TGFBR1*6A may contribute to hereditary colorectal cancer.

A. de la Chapelle, B. Pasche, J. Baron, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

AIP mutation in pituitary adenomas in the 18th century and today.

Richard L. Abel, D. Balding, Mark George Thomas, 2011, The New England journal of medicine.

A Splice-Site Mutation in Exon 4 of the APC Gene in a Family with Attenuated Familial Adenomatous Polyposis

P. Morrison, B. McIlhatton, K. Porter, 2007, Digestive Diseases and Sciences.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

A supernumerary chromosome 20, identified by FISH, in a male with azoospermia—cause or coincidence?

P. Morrison, N. Mcclure, S.E. McNerlan, 2002, American journal of medical genetics. Part A.

Mosaic Down’s syndrome prevalence in a complete population study

P. Morrison, L. Devlin, L Devlin, 2004, Archives of Disease in Childhood.

Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation.

P. Morrison, I. Young, K. Martin, 1997, American journal of medical genetics.

Familial spontaneous pneumothorax and FBN1 mutations.

R. Davies, P. Handford, A. Arnold, 2004, American journal of respiratory and critical care medicine.

Intensive care of the trauma patient.

P. Oakley, P. Morrison, N. A. Coleman, 2001, Resuscitation.

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

R. Eeles, D. Easton, P. Pharoah, 2008, Journal of Medical Genetics.

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

Ethical, Social and Economic Issues in Familial Breast Cancer: A Compilation of Views from the E.C. Biomed II Demonstration Project

J. Chang-Claude, P. Møller, D. Eccles, 2002, Disease markers.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

Cancer genetics: consultants' perceptions of their roles, confidence and satisfaction with knowledge.

B. Bunting, P. Morrison, D. Macauley, 2007, Journal of evaluation in clinical practice.

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.

Michael C. Ostrowski, V. Vieland, Huiling He, 2013, The Journal of clinical endocrinology and metabolism.

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than Hereditary Non Polyposis Colorectal Cancer cohorts

J. H. Price, C. Graham, P. Morrison, 2008, The Ulster medical journal.

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

R. Houlston, S. Hodgson, P. Morrison, 2005, Journal of Medical Genetics.

Exonic STK 11 deletions are not a rare cause of Peutz-Jeghers syndrome

R. Houlston, S. Hodgson, P. Morrison, 2006 .

Clinical and genetic characterization of leukoencephalopathies in adults

Nick C Fox, J. Schott, C. Mummery, 2017, Brain : a journal of neurology.

Laryngeal atresia or stenosis presenting as second‐trimester fetal ascites—diagnosis and pathology in three independent cases

P. Morrison, P. Mckeever, S. Macphail, 1998, Prenatal diagnosis.

Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report.

P. Morrison, T. Dabir, 2006, Clinical dysmorphology.

Non-directive genetic counselling

M. Pembrey, P. Morrison, N. Nevin, 1991, The Lancet.

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.

L. Møller, P. Morrison, D. Donnelly, 2013, Molecular genetics and metabolism.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Jane S. Paulsen, R H Myers, C A Ross, 2012, Neurology.

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

Jane S. Paulsen, J. Mysore, M. MacDonald, 2004, Neurogenetics.

The epidemiology of Huntington's disease in Northern Ireland.

P. Morrison, N. Nevin, W. Johnston, 1995, Journal of medical genetics.

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

M. Korbonits, S. Hodgson, N. Canham, 2013, The Journal of clinical endocrinology and metabolism.

Association of prolactin receptor (PRLR) variants with prolactinomas

F. Karpe, M. Neville, A. Grossman, 2018, Human molecular genetics.

Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

D. Bishop, J. Rashbass, A. Lindblom, 2022, Cancer prevention research.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

D. Balding, Mark George Thomas, S. Ellard, 2016, Human mutation.

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

P. Morrison, N. Nevin, J. Jones, 1990, Journal of medical genetics.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Soo-Mi Park, A. Antoniou, R. Lindsay, 2018, Journal of Medical Genetics.

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

D. Rubinsztein, A. Dalton, M. Kotze, 1997, Journal of medical genetics.

Asbestos, mesothelioma and the legacy of shipbuilding in Belfast

P. Morrison, 2008, The Ulster medical journal.

Insurance Implications for Individuals with a High Risk of Breast and Ovarian Cancer in Europe

J. Chang-Claude, P. Møller, D. Eccles, 2002, Disease markers.

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

R. Houlston, I. Tomlinson, R. Trembath, 2005, BMC Genomics.

SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

Soo-Mi Park, C. Bowles, P. Carroll, 2021, Clinical endocrinology.

Genetic instabilities and hereditary neurological diseaseses

P. Morrison, 1999 .

Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland

C. Graham, P. Morrison, N. Nevin, 1989, Human Genetics.

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

R. Snell, D. Shaw, P. Harper, 1993, Journal of medical genetics.

Anticipating more anticipation

P. Morrison, 1996, The Lancet.

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Jane S. Paulsen, T. Gillis, J. Mysore, 2006, BMC Medical Genetics.

Paediatric and adult movement disorders (update 2).

P. Morrison, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hereditary ataxias and paediatric neurology: new movers and shakers enter the field.

P. Morrison, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Paediatric and adult movement disorders.

P. Morrison, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Adult and paediatric movement disorders.

P. Morrison, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.

Epidemiology, clinical features, and genetics of multiple endocrine neoplasia type 2B in a complete population.

P. Morrison, D. Donnelly, A. Znaczko, 2014, The oncologist.

Gene probe analysis in an informative family with multiple endocrine neoplasia syndrome type 2A (MEN 2A). Improvement in carrier risk estimation.

L. Kennedy, P. Morrison, N. Nevin, 1991, The Quarterly journal of medicine.

Presymptomatic screening for MEN-2A

P. Morrison, N. Nevin, A. Hughes, 1991, The Lancet.

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

R. P. Gregory, K. Mills, M. Hanna, 2000, Journal of Neurology Neurosurgery & Psychiatry.

MEN 2A: update on the Northern Ireland and Australian family.

P. Morrison, N. Nevin, C. Russell, 1989, Henry Ford Hospital medical journal.

Thyroidectomy for medullary carcinoma in MEN 2A: positive genetic screening as the sole indicator for surgery.

P. Morrison, J. Sloan, D. McNally, 1997, The Ulster medical journal.

Umbilical pigmentation in Peutz–Jeghers syndrome

P. Morrison, D. Donnelly, Peter T. Morrison, 2014, Clinical dysmorphology.

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

G Rennert, N Weerasooriya, K Offit, 2009, British Journal of Cancer.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

BRCA1 and c-Myc associate to transcriptionally repress psoriasin, a DNA damage-inducible gene.

P. Watson, P. Johnston, Peter H. Watson, 2005, Cancer research.

Deliberate and accidental self-harm

P. Morrison, 2009, The Ulster medical journal.

Surfactant Metabolism Dysfunction and Childhood Interstitial Lung Disease (chILD)

M. Shields, P. Morrison, A. McMorrow, 2009, Ulster medical journal.

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

P. Morrison, N. Nevin, R. Lowry, 1998, Thorax.

Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome.

P. Morrison, P. Leyden, 2017, Clinical dysmorphology.

Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin

K. Mckenna, P. Morrison, D. Hurrell, 2018, Fetal and pediatric pathology.

Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.

B. Craig, P. Morrison, S. McCullough, 2010, European journal of medical genetics.

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

D. Timmann, M. Ferrari, P. Striano, 2020, American journal of human genetics.

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

A. Rigby, F. Raymond, M. Losekoot, 2006, Journal of Medical Genetics.

Tuberous Sclerosis: Epidemiology, Genetics and Progress towards Treatment

P. Morrison, 2009, Neuroepidemiology.

Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review

Richard J Martin, P. Morrison, J. Hughes, 2018, American journal of medical genetics. Part A.

The prevalence of pica in tuberous sclerosis complex

P. Morrison, D. Donnelly, C. Shepherd, 2015, SpringerPlus.

The prevalence of pica in tuberous sclerosis

Neill, O. Tara, P. Morrison, 2015 .

Clinical Genetics and Genetic Counseling

S. McKee, P. Morrison, D. Donnelly, 2012 .

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland

P. Morrison, L. Devlin, C. Shepherd, 2006, Developmental medicine and child neurology.

Insurance, genetic testing and familial cancer: recent policy changes in the United Kingdom.

P. Morrison, Morrison Pj, 2001, The Ulster medical journal.

We are like Dwarfs standing [or sitting] upon the shoulders of giants..

P. Morrison, 2005, The Ulster Medical Journal.

Mapping proprioceptive function using corticokinematic coherence in ataxias

R. Thomas, P. Morrison, 2019, Neurology.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

T. Gillis, J. Mysore, M. MacDonald, 2012, American journal of human genetics.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

T. Gillis, J. Mysore, M. MacDonald, 2013, neurogenetics.

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

M. MacDonald, M. Hayden, C. Ross, 2003, American journal of medical genetics. Part A.

Neurologic features in intermediate allele carriers of Huntington disease

J. Benito-León, P. Morrison, J. Benito‐León, 2016, Neurology.

THE HEALTH PRACTITIONER'S GUIDE TO CLIMATE CHANGE

P. Morrison, 2010, Ulster medical journal.

The frequency of spinocerebellar ataxia type 23 in a UK population

T. Révész, H. Morris, H. Houlden, 2013, Journal of Neurology.

Gene-gene interactions in breast cancer susceptibility.

Deborah Hughes, Peter Donnelly, Jonathan Berg, 2012, Human molecular genetics.

Treatment of bacterial infections

P. Morrison, 2009, The Ulster medical journal.

K. Bhatia, A. Lees, N. Wood, 2020, Neurology: Genetics.

Accurate prevalence and uptake of testing for Huntington's disease

Patrick J Morrison, P. Morrison, 2010, The Lancet Neurology.

Autosomal dominant inheritance with sex‐limited manifestation: The jury is still out

P. Morrison, 2023, American Journal of Medical Genetics. Part A.

Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.

P. Morrison, M. Jansson, A. Znaczko, 2020, American journal of medical genetics. Part A.

Learning And Improvement In Hereditary Diseases

P. Morrison, 2016, The Ulster medical journal.

Hereditary Gigantism-the biblical giant Goliath and his brothers

P. Morrison, D. Donnelly, 2014, The Ulster medical journal.

Giants of the British Isles

P. Morrison, L. Bradley, 2011, Ulster medical journal.

A quick reference guide for rare disease

H. McAneney, A. McKnight, M. Cupples, 2019 .

Paediatric and adult recessive ataxias (update 6).

P. Morrison, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.

P. Morrison, N. Nevin, J. Hughes, 2001, Ulster medical journal.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

D. Bishop, R. Scott, D. Evans, 2013 .

DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood

S. Hunter, P. Morrison, P. Johnston, 2008, Ulster medical journal.

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

T. Gillis, J. Mysore, M. MacDonald, 2012, Biochemical and biophysical research communications.

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

P S Harper, D Curtis, S. Folstein, 1996, American journal of human genetics.

Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence

M. Upadhyaya, P. Morrison, R. Spence, 2011, BMJ Case Reports.

Subcortical white matter abnormalities because of previously undescribed de-novo 14q12-q13.1 triplication.

C. McKinstry, P. Morrison, M. Mullarkey, 2013, Clinical dysmorphology.

Naming of syndromes

P. Morrison, 1996, The Lancet.

Cancer Genetics Services in Europe

J. Chang-Claude, P. Møller, D. Eccles, 2002, Disease markers.

A quick reference guide for rare disease: supporting rare disease management in general practice.

H. McAneney, A. McKnight, M. Cupples, 2020, The British journal of general practice : the journal of the Royal College of General Practitioners.

Professor Frank Pantridge – from Beriberi to pre-hospital coronary care

P. Morrison, 2010, Ulster medical journal.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, David Evans, 2017 .

New form of autosomal-recessive axonal hereditary sensory motor neuropathy.

J. Aicardi, P. Morrison, B. Herron, 1998, Pediatric neurology.

SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.

Michael C. Ostrowski, V. Vieland, Huiling He, 2013, The Journal of clinical endocrinology and metabolism.

A Second Family with Probable CRAC (Colorectal Adenomata and Carcinoma) Syndrome—A New Familial Cancer

P. Morrison, N. Nevin, C. E. Chu, 2002, Disease Markers.

Ameliorating the age at onset and disease progression in Huntington disease

M. Delatycki, P. Morrison, 2018, Neurology.

Confidential inquiry into families with two siblings with cystic fibrosis

P. Morrison, A. Magee, N. Nevin, 1998, Archives of disease in childhood.

Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.

M. Dempster, J. Reid, P. Morrison, 2017, The Cochrane database of systematic reviews.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.