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Author Details

Nicola K Poplawski
Royal Adelaide Hospital
1990
53
17
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
37723522The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome Med2023
37406166Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.Blood Adv2023
37101184A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.J Transl Med2023
37723522The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome Med2023
37406166Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.Blood Adv2023
34541672RNF43 pathogenic Germline variant in a family with colorectal cancer.Clin Genet2022
35837752Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.J Paediatr Child Health2022
36148247BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.Case Rep Genet2022
35399741Corrigendum to Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: An Australian perspective [American Journal of Preventive Cardiology 6 (2021) 100151].Am J Prev Cardiol2022
34541672RNF43 pathogenic Germline variant in a family with colorectal cancer.Clin Genet2022
35128805Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.Am J Med Genet A2022
34761457Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.Genes Chromosomes Cancer2022
35837752Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.J Paediatr Child Health2022
35399741Corrigendum to Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: An Australian perspective [American Journal of Preventive Cardiology 6 (2021) 100151].Am J Prev Cardiol2022
36148247BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.Case Rep Genet2022
35128805Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.Am J Med Genet A2022
34761457Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.Genes Chromosomes Cancer2022
32885561Young-onset colorectal cancer is associated with a personal history of type 2 diabetes.Asia Pac J Clin Oncol2021
33850299Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.Leukemia2021
33839693A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant.Endocrinol Diabetes Metab Case Rep2021
34047032Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.Intern Med J2021
32885561Young-onset colorectal cancer is associated with a personal history of type 2 diabetes.Asia Pac J Clin Oncol2021
33168572Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.J Med Genet2021
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
34781271Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.J Natl Compr Canc Netw2021
34887416Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ Breast Cancer2021
33850299Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.Leukemia2021
33839693A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant.Endocrinol Diabetes Metab Case Rep2021
34887416Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ Breast Cancer2021
34781271Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.J Natl Compr Canc Netw2021
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
34047032Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.Intern Med J2021
33168572Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.J Med Genet2021
32488879A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.Br J Haematol2020
32066420Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.BMC Med Genet2020
32302040CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.Am J Med Genet A2020
32488879A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.Br J Haematol2020
32208489RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.Blood Adv2020
33195952Aberrant Splicing of <i>SDHC</i> in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.J Endocr Soc2020
32066420Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.BMC Med Genet2020
33195952Aberrant Splicing of <i>SDHC</i> in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.J Endocr Soc2020
32208489RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.Blood Adv2020
32302040CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.Am J Med Genet A2020
31051468Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.Endocrinol Diabetes Metab Case Rep2019
31041842Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).J Pathol Clin Res2019
30923096A novel germline <i>SAMD9L</i> mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.Haematologica2019
31051468Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.Endocrinol Diabetes Metab Case Rep2019
30923096A novel germline <i>SAMD9L</i> mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.Haematologica2019
31041842Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).J Pathol Clin Res2019
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Collaborators

Kerry Phillips
Royal Adelaide Hospital
Co-authored papers 7
Anna L Brown
Adelaide Medical School, University of Adelaide
Co-authored papers 7
Lesley Rawlings
Co-authored papers 6
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 5
Lucy A Godley
The University of Chicago
Co-authored papers 4
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 4
Peter M George
University of Otago
Co-authored papers 3
Judy Kirk
Co-authored papers 3
Graeme Suthers
University of Adelaide
Co-authored papers 3
Alex Boussioutas
Royal Melbourne Hospital, University of Melbourne
Co-authored papers 3
Esko Wiltshire
Co-authored papers 3
Wendy S Rubinstein
CancerLinQ LLC, American Society of Clinical Oncology
Co-authored papers 2
Roger L Milne
Co-authored papers 2
Jan Lubinski
Pomeranian Medical University
Co-authored papers 2
Martha Quezado
National Cancer Institute (NCI), National Institutes of Health (NIH)
Co-authored papers 2
Robyn L Ward
University of Sydney
Co-authored papers 2
Gillian Mitchell
Familial Cancer Centre Peter MacCallum Cancer Centre Parkville Victoria 0 Australia.
Co-authored papers 2
Stefan Fr??hling
German Cancer Research Center (DKFZ), National Center for Tumor Diseases (NCT)
Co-authored papers 2
Graham G Giles
Co-authored papers 2
Andrew Tonkin
Co-authored papers 2
Daniel L Worthley
South Australian Health and Medical Research Institute
Co-authored papers 2
Nicola Waddell
QIMR Berghofer Medical Research Institute
Co-authored papers 2
Bernard J Pope
University of Melbourne, The University of Melbourne
Co-authored papers 2
Charles E Schwartz
Co-authored papers 2
Peter J Hulick
Neaman Center for Personalized Medicine, NorthShore University HealthSystem
Co-authored papers 2
David E Goldgar
University of Utah
Co-authored papers 2
Noralane M Lindor
Mayo Clinic
Co-authored papers 2
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 2
Haran Sivakumaran
QIMR Berghofer Medical Research Institute
Co-authored papers 1
Karel Pacak
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Co-authored papers 1
Release 1.2