Publications by authors named "Lyn Schofield"

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Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals.
Bhavya Bhupen Vora, Helen Mountain, Cassandra Nichols, Lyn Schofield

J Community Genet· April 2022

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Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.
Surabhi Gupta, Cassandra B Nichols, Jessica Phillips, Sarah O'Sullivan, Chloe Ayres, Lyn Schofield

Int J Gynecol Cancer· June 2021

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Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
Cassandra B Dowson, Colin Stewart, Sarah O'Sullivan, Nicholas Pachter, Lyn Schofield

Int J Gynecol Cancer· January 2020

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Uptake of testing for germline mutations in patients with non-mucinous epithelial ovarian cancers in Western Australia: a comparison of different genetic counseling methods.
Grace Stearnes, Cassandra B Nichols, Lyn Schofield, Sarah O'Sullivan, Nicholas Pachter

Int J Gynecol Cancer· July 2019

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, Raphael A Bernier, Francois P J Bernier, Lyn Schofield

Front Genet· July 2019

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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Gareth Baynam, Faye Bowman, Karla Lister, Caroline E Walker, Nicholas Pachter, Lyn Schofield

Adv Exp Med Biol· June 2018

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Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.
Josephine Shaw, Caroline Bulsara, Paul A Cohen, Madeleine Gryta, Cassandra B Nichols, Lyn Schofield

Patient Educ Couns· May 2018

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Initiating an undiagnosed diseases program in the Western Australian public health system.
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Lyn Schofield

Orphanet J Rare Dis· May 2017

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3-Dimensional Facial Analysis-Facing Precision Public Health.
Gareth Baynam, Alicia Bauskis, Nicholas Pachter, Lyn Schofield, Hedwig Verhoef

Front Public Health· April 2017

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A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.
Rebecca Freedman, Helen Mountain, Dian Karina, Lyn Schofield

J Genet Couns· February 2017

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Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.
Paul A Cohen, Cassandra B Nichols, Lyn Schofield, Steven Van Der Werf, Nicholas Pachter

Int J Gynecol Cancer· June 2016

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The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Lyn Schofield

Orphanet J Rare Dis· June 2016

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Jun Li, Susan L Woods, Sue Healey, Jonathan Beesley, Xiaoqing Chen, Lyn Schofield

Am J Hum Genet· May 2016

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A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
Gareth Baynam, Angela Overkov, Mark Davis, Kym Mina, Lyn Schofield

Am J Med Genet A· July 2015

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Population-based screening for Lynch syndrome in Western Australia.
Lyn Schofield, Fabienne Grieu, Benhur Amanuel, Amerigo Carrello, Dominic Spagnolo

Int J Cancer· September 2014

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Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.
Lyn Schofield, Jack Goldblatt, Barry Iacopetta

Rural Remote Health· April 2012

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A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours.
Lyn Schofield, Fabienne Grieu, Jack Goldblatt, Benhur Amanuel, Barry Iacopetta

Fam Cancer· March 2012

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A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
Gareth Baynam, Lyn Schofield, Jack Goldblatt

BMJ Case Rep· September 2011

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Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.
Gareth Baynam, Jack Goldblatt, Lyn Schofield

Am J Med Genet A· June 2009

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Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.
Lyn Schofield, Natasha Watson, Fabienne Grieu, Wei Qi Li, Nik Zeps

Int J Cancer· March 2009

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Heterogeneous staining for mismatch repair proteins during population-based prescreening for hereditary nonpolyposis colorectal cancer.
Natasha Watson, Fabienne Grieu, Melinda Morris, Jennet Harvey, Colin Stewart, Lyn Schofield

J Mol Diagn· September 2007

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Waiver of individual patient consent in research: when do potential benefits to the community outweigh private rights?
Nikolajs Zeps, Barry J Iacopetta, Lyn Schofield, Jillian M George, Jack Goldblatt

Med J Aust· January 2007

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Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Jae-Gahb Park, Duck-Woo Kim, Chang Won Hong, Byung-Ho Nam, Young-Kyoung Shin, Lyn Schofield

Clin Cancer Res· June 2006

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