Evidence of a genetic background predisposing to complex regional pain syndrome type 1Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH ClarkeSee the full list of authors
10 October 2023
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti SharmaSee the full list of authors
1 November 2022
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia LovgrenSee the full list of authors
5 November 2021
Association between genetic polymorphisms and endometrial cancer risk: a systematic reviewCemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie
17 February 2020
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic statusGeorge J Burghel, Unzela Khan, Wei-Yu Lin, William Whittaker, Siddharth Banka
23 September 2019
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg
22 March 2017
Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysisRanjit Manchanda, Rosa Legood, Antonis C Antoniou, Vladimir S Gordeev, Usha Menon
27 June 2016
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman
3 October 2011
