Works matching AU Poplawski, Nicola

Results: 21

The development and evaluation of educational resources for young women with neurofibromatosis type 1 undergoing breast cancer surveillance.

Published in:

Women's Health (17455057), 2025, p. 1, doi. 10.1177/17455057251337118

By:

Forwood, Caitlin;
Hartley, Emma;
Fleming, Jane;
Crook, Ashley;
Nawara, Diana;
Wilding, Mathilda;
Thiyagarajan, Lavvina;
Moore, Katrina;
Jimenez, Yobelli;
Saunderson, Rebecca B.;
Poplawski, Nicola;
Berman, Yemima

Publication type:

Article

Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.

Published in:

Journal of Paediatrics & Child Health, 2022, v. 58, n. 8, p. 1297, doi. 10.1111/jpc.16096

By:

Horton, Ari E;
Martin, Andrew C;
Srinivasan, Shubha;
Justo, Robert N;
Poplawski, Nicola K;
Sullivan, David;
Brett, Tom;
Chow, Clara K;
Nicholls, Stephen J;
Pang, Jing;
Watts, Gerald F

Publication type:

Article

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

Published in:

JAMA Neurology, 2017, v. 74, n. 9, p. 1123, doi. 10.1001/jamaneurol.2017.1406

By:

Pathmanaban, Omar N.;
Sadler, Katherine V.;
Kamaly-Asl, Ian D.;
King, Andrew T.;
Rutherford, Scott A.;
Hammerbeck-Ward, Charlotte;
McCabe, Martin G.;
Kilday, John-Paul;
Beetz, Christian;
Poplawski, Nicola K.;
Evans, D. Gareth;
Smith, Miriam J.

Publication type:

Article

RNF43 pathogenic Germline variant in a family with colorectal cancer.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 122, doi. 10.1111/cge.14064

By:

Mikaeel, Reger R.;
Young, Joanne P.;
Li, Yun;
Poplawski, Nicola K.;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tomita, Yoko;
Townsend, Amanda R.;
Feng, Jinghua;
Zibat, Arne;
Kaulfuß, Silke;
Müller, Christian;
Yigit, Gökhan;
Wollnik, Bernd;
Scott, Hamish;
Rawlings, Lesley;
Henry, Denae;
Vakulin, Cassandra;
Dubowsky, Andrew

Publication type:

Article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134

By:

Betsalel, Ofir T.;
Rosenberg, Efraim H.;
Almeida, Ligia S.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Valayannopoulos, Vassili;
Abdul-Rahman, Omar;
Poplawski, Nicola;
Vilarinho, Laura;
Wolf, Philipp;
den Dunnen, Johan T.;
Jakobs, Cornelis;
Salomons, Gajja S.

Publication type:

Article

An Ethical Issue for Reproductive Technologies*.

Published in:

Journal of Obstetrics & Gynaecology Research, 1990, v. 16, n. 3, p. 291, doi. 10.1111/j.1447-0756.1990.tb00240.x

By:

Poplawski, Nicola K.

Publication type:

Article

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 12, p. 1, doi. 10.1210/jendso/bvaa071

By:

Sousa, Sunita M C De;
Toubia, John;
Hardy, Tristan S E;
Feng, Jinghua;
Wang, Paul;
Schreiber, Andreas W;
Geoghegan, Joel;
Hall, Rachel;
Rawlings, Lesley;
Buckland, Michael;
Luxford, Catherine;
Novos, Talia;
Clifton-Bligh, Roderick J;
Poplawski, Nicola K;
Scott, Hamish S;
Torpy, David J

Publication type:

Article

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).

Published in:

Journal of Pathology: Clinical Research, 2019, v. 5, n. 3, p. 189, doi. 10.1002/cjp2.133

By:

Packwood, Kate;
Martland, Guy;
Sommerlad, Matthew;
Shaw, Emily;
Moutasim, Karwan;
Thomas, Gareth;
Bateman, Adrian C;
Jones, Louise;
Haywood, Linda;
Evans, D Gareth;
Birch, Jillian M;
Alsalmi, Ohud A;
Henderson, Alex;
Poplawski, Nicola;
Eccles, Diana M

Publication type:

Article

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.

Published in:

Clinical Endocrinology, 2016, v. 85, n. 3, p. 495, doi. 10.1111/cen.13104

By:

Gagliardi, Lucia;
Burt, Morton G.;
Feng, Jinghua;
Poplawski, Nicola K.;
Scott, Hamish S.

Publication type:

Article

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Published in:

NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00360-3

By:

Southey, Melissa C.;
Dowty, James G.;
Riaz, Moeen;
Steen, Jason A.;
Renault, Anne-Laure;
Tucker, Katherine;
Kirk, Judy;
James, Paul;
Winship, Ingrid;
Pachter, Nicholas;
Poplawski, Nicola;
Grist, Scott;
Park, Daniel J.;
Pope, Bernard J.;
Mahmood, Khalid;
Hammet, Fleur;
Mahmoodi, Maryam;
Tsimiklis, Helen;
Theys, Derrick;
Rewse, Amanda

Publication type:

Article

Young‐onset colorectal cancer is associated with a personal history of type 2 diabetes.

Published in:

Asia Pacific Journal of Clinical Oncology, 2021, v. 17, n. 1, p. 131, doi. 10.1111/ajco.13428

By:

Mikaeel, Reger R.;
Symonds, Erin L.;
Kimber, James;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tapia Rico, Gonzalo;
Hewett, Peter J.;
Yong, Jonathan;
Tonkin, Darren;
Jesudason, David;
Poplawski, Nicola K.;
Ruszkiewicz, Andrew R.;
Drew, Paul A.;
Hardingham, Jenny E.;
Wong, Stephanie;
Frank, Oliver;
Tomita, Yoko;
Patel, Dainik;
Vatandoust, Sina

Publication type:

Article

Medicare-funded cancer genetic tests: a note of caution: Clinicians need appropriate education and support in keeping pace with the genomics revolution.

Published in:

Medical Journal of Australia, 2018, v. 209, n. 5, p. 193, doi. 10.5694/mja17.01124

By:

Kirk, Judy;
Barlow-Stewart, Kristine K.;
Poplawski, Nicola K.;
Gleeson, Margaret;
Tucker, Kathy;
Friedlander, Michael

Publication type:

Article

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

Published in:

Acta Diabetologica, 2024, v. 61, n. 2, p. 181, doi. 10.1007/s00592-023-02193-x

By:

De Sousa, Sunita M. C.;
Wu, Kathy H. C.;
Colclough, Kevin;
Rawlings, Lesley;
Dubowsky, Andrew;
Monnik, Melissa;
Poplawski, Nicola;
Scott, Hamish S.;
Horowitz, Michael;
Torpy, David J.

Publication type:

Article

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Published in:

Internal Medicine Journal, 2021, v. 51, n. 5, p. 769, doi. 10.1111/imj.15327

By:

Watts, Gerald F.;
Sullivan, David R.;
Hare, David L.;
Kostner, Karam M.;
Horton, Ari E.;
Bell, Damon A.;
Brett, Tom;
Trent, Ronald J.;
Poplawski, Nicola K.;
Martin, Andrew C.;
Srinivasan, Shubha;
Justo, Robert N.;
Chow, Clara K.;
Pang, Jing

Publication type:

Article

"Out of the blue": A qualitative study exploring the experiences of women and next of kin receiving unexpected results from BRA‐STRAP research gene panel testing.

Published in:

Journal of Genetic Counseling, 2024, v. 33, n. 5, p. 973, doi. 10.1002/jgc4.1803

By:

Morrow, April;
Speechly, Catherine;
Young, Alison Luk;
Tucker, Kathy;
Harris, Rebecca;
Poplawski, Nicola;
Andrews, Lesley;
Nguyen Dumont, Tu;
Kirk, Judy;
Southey, Melissa C.;
Willis, Amanda

Publication type:

Article

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.

Published in:

2022

By:

Pandithan, Dinusha;
Klebe, Sonja;
McKavanagh, Grace;
Rawlings, Lesley;
Yu, Sui;
Nicholl, Jillian;
Poplawski, Nicola

Publication type:

Case Study

Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1583, doi. 10.1002/ajmg.a.62674

By:

Santoreneos, Renee;
Vakulin, Cassandra;
Ellul, Melissa;
Rawlings, Lesley;
Hardy, Tristan;
Poplawski, Nicola

Publication type:

Article

CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1780, doi. 10.1002/ajmg.a.61601

By:

LeBlanc, Shannon;
Naveen, Dildeepa;
Haan, Eric;
Barnett, Christopher;
Rawlings, Lesley;
Roscioli, Tony;
Poplawski, Nicola

Publication type:

Article

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.

Published in:

British Journal of Haematology, 2020, v. 190, n. 5, p. e297, doi. 10.1111/bjh.16819

By:

Fox, Lucy C.;
Tan, Michelle;
Brown, Anna L.;
Arts, Peer;
Thompson, Ella;
Ryland, Georgina L.;
Lickiss, Jennifer;
Scott, Hamish S.;
Poplawski, Nicola K.;
Phillips, Kerry;
Came, Neil A.;
James, Paul;
Ting, Stephen B.;
Ritchie, David S.;
Szer, Jeff;
Hahn, Christopher N.;
Schwarer, Anthony;
Blombery, Piers

Publication type:

Article

Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer.

Published in:

Genes, Chromosomes & Cancer, 2022, v. 61, n. 2, p. 105, doi. 10.1002/gcc.23011

By:

Mikaeel, Reger R.;
Young, Joanne P.;
Li, Yun;
Smith, Eric;
Horsnell, Mehgan;
Uylaki, Wendy;
Tapia Rico, Gonzalo;
Poplawski, Nicola K.;
Hardingham, Jennifer E.;
Tomita, Yoko;
Townsend, Amanda R.;
Feng, Jinghua;
Zibat, Arne;
Kaulfuß, Silke;
Müller, Christian;
Yigit, Gökhan;
Wollnik, Bernd;
Price, Timothy J.

Publication type:

Article

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0971-z

By:

Venugopal, Parvathy;
Gagliardi, Lucia;
Forsyth, Cecily;
Feng, Jinghua;
Phillips, Kerry;
Babic, Milena;
Poplawski, Nicola K.;
Rienhoff, Hugh Young;
Schreiber, Andreas W.;
Hahn, Christopher N.;
Brown, Anna L.;
Scott, Hamish S.

Publication type:

Article