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Author Details

Nicholas Pachter
King Edward Memorial Hospital
2009
55
20
PMIDPaper TitleJournal TitlePublished Year
37101184A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.J Transl Med2023
37894291DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.Cancers (Basel)2023
37723522The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome Med2023
34727336Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.J Community Genet2022
35509103Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.Hered Cancer Clin Pract2022
36579509The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.J Pers Med2022
35263119TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.J Clin Oncol2022
32678339Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").Eur J Hum Genet2021
33654309MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.Eur J Hum Genet2021
33858951Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.Int J Gynecol Cancer2021
34887416Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ Breast Cancer2021
34711002Patient Satisfaction with Private Genetic Counselling for Familial Cancer in Western Australia: A Prospective Audit.Asian Pac J Cancer Prev2021
34678156A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.Lancet Oncol2021
33168572Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.J Med Genet2021
31625560Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.Hum Mol Genet2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31699802Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.Int J Gynecol Cancer2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
32805446Disclosing genetic information to family members without consent: Five Australian case studies.Eur J Med Genet2020
32418874Patients With Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.Heart Lung Circ2020
32153140Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.Ann Clin Transl Neurol2020
30293987Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.Genet Med2019
31209093Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.BMJ Open2019
31537406Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.Eur Urol2019
31221211Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol.Trials2019
31101686Uptake of testing for germline <i>BRCA</i> mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.Int J Gynecol Cancer2019
30915324Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.Front Public Health2019
30915323Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.Front Public Health2019
30844479Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.Gene2019
29273311Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.Patient Educ Couns2018
30071989Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.J Am Coll Cardiol2018
30294856Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers.Asia Pac J Clin Oncol2018
29555671A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.Circ Genom Precis Med2018
29778910A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.Cardiovasc Pathol2018
29710374Peritumoral granulomatous reaction in endometrial carcinoma: association with DNA mismatch repair protein deficiency, particularly loss of PMS2 expression.Histopathology2018
29509747Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.Br J Cancer2018
29594054A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.Eur Thyroid J2018
29482591Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.J Transl Med2018
29301143Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.Br J Cancer2018
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
284432723-Dimensional Facial Analysis-Facing Precision Public Health.Front Public Health2017
29036646De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.Hum Mol Genet2017
29214589Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.Adv Exp Med Biol2017
27051053Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.Int J Gynecol Cancer2016
27899157Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.Genome Biol2016
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
25459914NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.J Clin Endocrinol Metab2015
23952534The future in clinical genetics: affective forecasting biases in patient and clinician decision making.Clin Genet2014
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
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Collaborators

Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 10
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 10
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 8
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 8
Tarun Weeramanthri
University of Western Australia
Co-authored papers 7
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 6
Judy Kirk
Co-authored papers 6
Mark R Davis
QEII Medical Centre, Hospital Avenue
Co-authored papers 6
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 6
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 6
John Beilby
University of Western Australia
Co-authored papers 6
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 6
Zsofia Kote-Jarai
The Institute of Cancer Research
Co-authored papers 5
Nicola K Poplawski
Royal Adelaide Hospital
Co-authored papers 5
Caron Molster
Public Health and Clinical Services Division
Co-authored papers 5
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 5
Elizabeth Bancroft
The Institute of Cancer Research
Co-authored papers 5
Rosalind A Eeles
The Institute of Cancer Research
Co-authored papers 5
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 5
Vincent Khoo
The Royal Marsden NHS Foundation Trust and Institute of Cancer Research
Co-authored papers 4
Kym Mina
QEII Medical Centre
Co-authored papers 4
Gillian Mitchell
Familial Cancer Centre Peter MacCallum Cancer Centre Parkville Victoria 0 Australia.
Co-authored papers 4
William D Foulkes
Segal Cancer Centre, Jewish General Hospital
Co-authored papers 4
Jennie Slee
King Edward Memorial Hospital
Co-authored papers 4
Caroline E Walker
University of London
Co-authored papers 4
Anne Hawkins
Stanford University School of Medicine
Co-authored papers 4
Christopher S Foster
The Institute of Cancer Research
Co-authored papers 4
Henrik Gr??nberg
Karolinska Institute
Co-authored papers 4
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 4
Susan M Domchek
Co-authored papers 4
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