Part of the Medical Genetics Commons

Works in Medical Genetics

2023

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: A case report and review, Yi Wu, Dan Wu, Yulong Lan, Shaocong Lan, Duo Li, Zexin Zheng, Hongwu Wang, Lian Ma
Research outputs 2022 to 2026

PDF

Genetic variants and serum profiles of cytokines in Covid-19 severity, Eman Alefishat, Mira Mousa, Mohammed Albreiki, Herbert F. Jelinek, Zainab Al Halwachi, Mariam Khalili, Fathimathuz Waasia, Maimunah Uddin, Nawal Al Kaabi, Bassam Mahboub, Mohammad T. Albataineh, Guan Kwang Tay, Habiba S. Alsafar
Research outputs 2022 to 2026

Advancement in human face prediction using DNA, Aamer Alshehhi, Aliya Almarzooqi, Khadija Alhammadi, Naoufel Werghi, Guan Kwang Tay, Habiba Alsafar
Research outputs 2022 to 2026

PDF

2022

Metabolomics in pulmonary medicine: Extracting the most from your data, Stacey N. Reinke, Romanas Chaleckis, Craig E. Wheelock
Research outputs 2022 to 2026

PDF

2019

Association of CamK2A genetic variants with transition time from occasional to regular heroin use in a sample of heroin-dependent individuals, Antonia Eirich, Teresa Biermann, Christian P Müller, Johannes Kornhuber, Beben Benyamin, Gary K. Hulse, Dieter B. Wildenauer, Sibylle G. Schwab
Research outputs 2014 to 2021

2018

Novel epigenomic biomarkers of male infertility identified by methylation patterns of CpG sites within imprinting control regions of H19 and SNRPN genes, Peng Hongli, Zhao Panlin, Liu Jiaonan, Zhang Jinxia, Zhang Jie, Wang Youxin, Wu Lijuan, Manshu Song, Wei Wang
Research outputs 2014 to 2021

Increased risk for obesity and diabetes with neurodegeneration in developing countries, I. J. Martins
Research outputs 2014 to 2021

PDF

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density, Nerea Alonso, Karol Estrada, Omar M. E. Albagha, Lizbeth Herrera, Sjur Reppe, Ole K. Olstad, Kaare M. Gautvik, Niamh M. Ryan, Kathryn L. Evans, Carrie M. Nielson, Yi-Hsiang Hsu, Douglas P. Kiel, George Markozannes, Evangelia E. Ntzani, Evangelos Evangelou, Bjarke Feenstra, Xueping Liu, Mads Melbye, Laura Masi, Maria Luisa Brandi, Philip Riches, Anna Daroszewska, Jose manuel Olmos, Carmen Valero, Jesus Castillo, Jose A. Riancho, Lise B. Husted, Bente L. Langdahl, Matthew A. Brown, Emma L. Duncan, Stephen Kaptoge, Kay-Tee Khaw, Ricardo Usategui-Martin, Javier Del Pino-Montes, Rogelio Gonzalez-Sarmiento, Joshua R. Lewis, Richard L. Prince, Patrizia D'Amelio, Natalia Garcia-Giralt, Xavier Nogues, Simona Mencej-Bedrac, Janja Marc, Orit Wolstein, John A. Eisman, Ling Oei, Carolina Medina-Gomez, Katharina E. Schraut, Pau Navarro, James F. Wilson, Gail Davies, John Starr, Ian Deary, Toshiko Tanaka, Luigi Ferrucci, Fernando Gianfrancesco, Luigi Gennari, Gavin Lucas, Roberto Elosua, Andre G. Uitterlinden, Fernando Rivadeneira, Stuart H. Ralston
Research outputs 2014 to 2021

2017

Genome analysis of Clostridium difficile PCR ribotype 014 lineage in Australian pigs and humans reveals a diverse genetic repertoire and signatures of long-range interspecies transmission, Daniel R. Knight, Michael M. Squire, Deirdre A. Collins, Thomas V. Riley
Research outputs 2014 to 2021

PDF

2016

Expression of cell-surface marker ABCB5 causes characteristic modifications of glucose, amino acid and phospholipid metabolism in the G3361 melanoma-initiating cell line, Norbert W. Lutz, Pallavi Banerjee, Brian J. Watson, Jie Ma, Patrick J. Cozzone, Markus H. Frank
Research outputs 2014 to 2021

PDF

China suboptimal health cohort study: Rationale, design and baseline characteristics, Youxin Wang, Siqi Ge, Yuxiang Yan, Anxin Wang, Zhongyao Zhao, Xinwei Yu, Jing Qui, Mohamed Ali Alzain, Hao Wang, Honghong Fang, Qing Gao, Manshu Song, Jie Zhang, Yong Zhou, Wei Wang
Research outputs 2014 to 2021

PDF

2015

Saying ‘No’: A biographical analysis of the experiences of women with a genetic predisposition to developing breast/ovarian cancer who reject risk reducing surgery, Doreen Molloy
Theses: Doctorates and Masters

PDF

2013

Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil, Gabrielle N. Manzoli, Kiyoko Abe-Sandes, Alan H. Bittles, Danniel da Silva, Luciene Fernandes, Roberta Paulon, Iza Cristina de Castro, Carla Padovani, Angelina Acosta
Research outputs 2013

Delivering genetic education and genetic counseling for rare diseases in rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles
Research outputs 2013

PDF

Pupil response biomarkers distinguish amyloid precursor protein mutation carriers from non-carriers, Shaun Frost, Yogesan Kanagasingam, Hamid R. Sohrabi, Kevin Taddei, Randall Bateman, John Morris, Tammie Benzinger, Alison Goate, Colin Masters, Ralph N. Martins
Research outputs 2013

The characterisation of Pax3 expressant cells in adult peripheral nerve [journal article], Judith Blake, Melanie Ziman
Research outputs 2013

PDF

PAX3 expression, protein modifications and downstream target gene profiling in melanocytes and melanoma cells, Danielle Bartlett
Theses: Doctorates and Masters

PDF

2012

Profiling Plasma Peptides for the Identification of Potential Ageing Biomarkers in Chinese Han Adults, Jiapeng Lu, Yuqing Huang, Youxin Wang, Yan Li, Youjun Zhang, Jingjing Wu, Feifei Zhao, Shijiao Meng, Xinwei Yu, Qingwei Ma, Manshu Song, Naibai Chang, Alan H. Bittles, Wei Wang
Research outputs 2012

PDF

2008

Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda, Bettina Meiser, Kathy Tucker, Michael Friedlander, Kristine Barlow-Stewart, Elizabeth Lobb, Christobel Saunders, Gillian Mitchell
Research outputs pre 2011

PDF

A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon 4 allele, Ryan J. Haasl, M Reza Ahmadi, Sivan Vadakkadath Meethal, Carey E. Gleason, Sterling C. Johnson, Sanjay Asthana, Richard L. Bowen, Craig S. Atwood
Research outputs pre 2011

PDF

2007

Development and pilot testing of two decision aids for individuals considering genetic testing for cancer risk, Claire Wakefield, Bettina Meiser, Judi Homewood, Michelle Peate, Judy Kirk, Beverley Warner, Elizabeth Lobb, Clara Caff, Kathy Tucker
Research outputs pre 2011

2001

Molecular genetic investigation of autosomal dominant muscular dystrophy, Christopher Meredith
Theses: Doctorates and Masters

PDF

1998

Exclusion mapping of polycystic kidney disease: A third locus, Eoin Thompson
Theses: Doctorates and Masters

PDF