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Author Details

Fiona McKenzie
King Edward Memorial Hospital
2002
67
27
PMIDPaper TitleJournal TitlePublished Year
36628540Australian guidelines for the management of children with achondroplasia.J Paediatr Child Health2023
37429685Cohort profile: Ngā Kawekawe o Mate Korona | Impacts of COVID-19 in Aotearoa - a prospective, national cohort study of people with COVID-19 in New Zealand.BMJ Open2023
36896612Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.J Bone Miner Res2023
35910155Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations.ACS Omega2022
32663320Dissecting the journey to breast cancer diagnosis in sub-Saharan Africa: Findings from the multicountry ABC-DO cohort study.Int J Cancer2021
33866545Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.Clin Genet2021
33197280Geospatial barriers to healthcare access for breast cancer diagnosis in sub-Saharan African settings: The African Breast Cancer-Disparities in Outcomes Cohort Study.Int J Cancer2021
33005949Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.J Clin Endocrinol Metab2021
31316167A clinical scoring system for congenital contractural arachnodactyly.Genet Med2020
31997652Time as a Social and Environmental Determinant of Health for Rural Women.Health Educ Behav2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
33159883RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.Am J Hum Genet2020
32688058Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.Eur J Med Genet2020
32827482Breast cancer survival and survival gap apportionment in sub-Saharan Africa (ABC-DO): a prospective cohort study.Lancet Glob Health2020
32686290The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Am J Med Genet A2020
32383449Few Losses to Follow-up in a Sub-Saharan African Cancer Cohort via Active Mobile Health Follow-up.Am J Epidemiol2020
30614210Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.Mol Genet Genomic Med2019
31778367Cancer survival equity by 2030: a Treaty compliant systems approach required.N Z Med J2019
31409419Inequities in breast cancer treatment in sub-Saharan Africa: findings from a prospective multi-country observational study.Breast Cancer Res2019
30779404Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.J Genet Couns2019
29215649A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.Genet Med2018
29980984Breast cancer awareness in the sub-Saharan African ABC-DO cohort: African Breast Cancer-Disparities in Outcomes study.Cancer Causes Control2018
29924900Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Hum Mutat2018
30194818Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.Am J Med Genet A2018
29209020A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Eur J Hum Genet2018
29197068Drivers of advanced stage at breast cancer diagnosis in the multicountry African breast cancer - disparities in outcomes (ABC-DO) study.Int J Cancer2018
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
28138333Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in <i>FAM111A</i> gene.Int J Pediatr Endocrinol2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
29128086Delayed presentation and diagnosis of breast cancer in African women: a systematic review.Ann Epidemiol2017
27100409Healthy Lifestyle and Risk of Cancer in the European Prospective Investigation Into Cancer and Nutrition Cohort Study.Medicine (Baltimore)2016
27899157Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.Genome Biol2016
27554102African Breast Cancer-Disparities in Outcomes (ABC-DO): protocol of a multicountry mobile health prospective study of breast cancer survival in sub-Saharan Africa.BMJ Open2016
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
27376611X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.Indian Pediatr2016
25379993Healthy lifestyle and risk of breast cancer among postmenopausal women in the European Prospective Investigation into Cancer and Nutrition cohort study.Int J Cancer2015
26385793Barriers to and delays in accessing breast cancer care among New Zealand women: disparities by ethnicity.BMC Health Serv Res2015
25492405Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Clin Genet2015
24410858Healthy lifestyle and risk of breast cancer for indigenous and non-indigenous women in New Zealand: a case control study.BMC Cancer2014
25431289Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.Twin Res Hum Genet2014
25505228Dietary folate intake and breast cancer risk: European prospective investigation into cancer and nutrition.J Natl Cancer Inst2014
24674092The IFITM5 mutation c.-14C &gt; T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.BMC Musculoskelet Disord2014
2296813214q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Eur J Hum Genet2013
24140113Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.Am J Hum Genet2013
24260282Hormonal therapy and risk of breast cancer in mexican women.PLoS One2013
23936166Age and ethnic differences in volumetric breast density in new zealand women: a cross-sectional study.PLoS One2013
23646186Cigarette smoking and risk of breast cancer in a New Zealand multi-ethnic case-control study.PLoS One2013
23179663A multi-ethnic breast cancer case-control study in New Zealand: evidence of differential risk patterns.Cancer Causes Control2013
21891789Socio-economic inequalities in survival from screen-detected breast cancer in South West England: population-based cohort study.Eur J Public Health2012
20957667Lung cancer and occupation: A New Zealand cancer registry-based case-control study.Am J Ind Med2011
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Collaborators

Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 8
Joachim Sch??z
European Academy of Cancer Sciences
Co-authored papers 7
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 6
Andreas Zankl
The University of Sydney
Co-authored papers 6
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 6
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 5
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 5
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 4
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 4
Kym Mina
QEII Medical Centre
Co-authored papers 4
Jennie Slee
King Edward Memorial Hospital
Co-authored papers 4
John Beilby
University of Western Australia
Co-authored papers 4
Antonia Trichopoulou
Co-authored papers 3
Petra H M Peeters
Co-authored papers 3
Paolo Boffetta
Co-authored papers 3
Hendrik B Bueno-de-Mesquita
Co-authored papers 3
Tony Roscioli
Prince of Wales Hospital
Co-authored papers 3
María-José Sánchez
Co-authored papers 3
Caron Molster
Public Health and Clinical Services Division
Co-authored papers 3
Tudor Groza
Perth Children's Hospital
Co-authored papers 3
Anand Vasudevan
Royal Women's Hospital
Co-authored papers 3
Caroline E Walker
University of London
Co-authored papers 3
Anne Hawkins
Stanford University School of Medicine
Co-authored papers 3
Dimitrios Trichopoulos
Co-authored papers 3
Kim Overvad
Co-authored papers 3
Emma L Duncan
Co-authored papers 3
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Co-authored papers 3
Matthew A Brown
Co-authored papers 3
Tarun Weeramanthri
University of Western Australia
Co-authored papers 3
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 3
Release 1.2