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Author Details

Lyn Schofield
King Edward Memorial Hospital for Women Perth
2006
22
13
PMIDPaper TitleJournal TitlePublished Year
35013911Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.J Community Genet2022
35013911Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.J Community Genet2022
33858951Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.Int J Gynecol Cancer2021
33858951Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.Int J Gynecol Cancer2021
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
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
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
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
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
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
27265404A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.J Genet Couns2017
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
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
27265404A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.J Genet Couns2017
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
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.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
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
27051053Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.Int J Gynecol Cancer2016
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
27287197The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet J Rare Dis2016
27087319Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.Am J Hum Genet2016
25851998A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.Am J Med Genet A2015
25851998A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.Am J Med Genet A2015
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
24474394Population-based screening for Lynch syndrome in Western Australia.Int J Cancer2014
22120844A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.Fam Cancer2012
22120844A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.Fam Cancer2012
22188021Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.Rural Remote Health2011
22679258A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?BMJ Case Rep2011
22188021Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.Rural Remote Health2011
22679258A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?BMJ Case Rep2011
19072991Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.Int J Cancer2009
19449425Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.Am J Med Genet A2009
19072991Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.Int J Cancer2009
19449425Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.Am J Med Genet A2009
17223771Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights?Med J Aust2007
17223771Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights?Med J Aust2007
17652638Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.J Mol Diagn2007
17652638Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.J Mol Diagn2007
16740762Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.Clin Cancer Res2006
16740762Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.Clin Cancer Res2006
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Collaborators

Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 13
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 10
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 7
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers 6
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 5
Tarun Weeramanthri
University of Western Australia
Co-authored papers 4
Kym Mina
QEII Medical Centre
Co-authored papers 4
Caron Molster
Public Health and Clinical Services Division
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
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 3
Hedwig Verhoef
Cooperative Research Centre for Spatial Information
Co-authored papers 3
Mark R Davis
QEII Medical Centre, Hospital Avenue
Co-authored papers 3
Anand Vasudevan
Royal Women's Hospital
Co-authored papers 3
Jennie Slee
King Edward Memorial Hospital
Co-authored papers 3
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 3
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers 3
John Beilby
University of Western Australia
Co-authored papers 3
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 3
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 2
Stephen C Groft
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers 2
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 2
Andreas Zankl
The University of Sydney
Co-authored papers 2
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Co-authored papers 2
Tudor Groza
Perth Children's Hospital
Co-authored papers 2
Marcel E Dinger
The University of Sydney
Co-authored papers 2
Paul Lasko
McGill University. Montreal
Co-authored papers 2
Nikolajs Zeps
Queensland University of Technology
Co-authored papers 2
Richard Palmer
Curtin University
Co-authored papers 2
John S Mattick
Australia UNSW RNA Institute
Co-authored papers 2
Release 1.2