Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

por Kirk, Edwin P., Delatycki, Martin B., Laing, Nigel
Publicado 2022

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss

por Freeman, Lucinda, Delatycki, Martin B., Leach Scully, Jackie, Kirk, Edwin P.
Publicado 2022

Tay-Sachs disease: current perspectives from Australia

por Lew, Raelia M, Burnett, Leslie, Proos, Anné L, Delatycki, Martin B
Publicado 2015

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

por Peverill, Roger E., Donelan, Lesley, Corben, Louise A., Delatycki, Martin B.
Publicado 2018

Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

por Bowman‐Smart, Hilary, Savulescu, Julian, Gyngell, Christopher, Mand, Cara, Delatycki, Martin B.
Publicado 2019

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

por Forbes, Thomas A, Wallace, Jane, Kumble, Smitha, Delatycki, Martin B, Stark, Zornitza
Publicado 2022

Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening

por Freeman, Lucinda, Delatycki, Martin B., Scully, Jackie Leach, Briggs, Nancy, Kirk, Edwin P.
Publicado 2023

Consensus clinical management guidelines for Friedreich ataxia

por Corben, Louise A, Lynch, David, Pandolfo, Massimo, Schulz, Jörg B, Delatycki, Martin B
Publicado 2014

Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity

por Peverill, Roger E., Romanelli, Giovanni, Donelan, Lesley, Hassam, Rhonda, Corben, Louise A., Delatycki, Martin B.
Publicado 2019

Non-invasive prenatal testing for ‘non-medical’ traits: ensuring consistency in ethical decision-making

por Bowman-Smart, Hilary, Gyngell, Christopher, Mand, Cara, Amor, David J., Delatycki, Martin B., Savulescu, Julian
Publicado 2023

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

por Rummey, Christian, Harding, Ian H., Delatycki, Martin B., Tai, Geneieve, Rezende, Thiago, Corben, Louise A.
Publicado 2022

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

por Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J
Publicado 2018

‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications

por Bowman-Smart, Hilary, Savulescu, Julian, Mand, Cara, Gyngell, Christopher, Pertile, Mark D, Lewis, Sharon, Delatycki, Martin B
Publicado 2019

‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing

por Bowman‐Smart, Hilary, Savulescu, Julian, Mand, Cara, Gyngell, Christopher, Pertile, Mark D., Lewis, Sharon, Delatycki, Martin B.
Publicado 2019

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

por Li, Lingli, Voullaire, Lucille, Sandi, Chiranjeevi, Pook, Mark A., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P.
Publicado 2013

Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver

por Crawford, Darrell H. G., Ramm, Grant A., Bridle, Kim R., Nicoll, Amanda J., Delatycki, Martin B., Olynyk, John K.
Publicado 2023

Long Range Regulation of Human FXN Gene Expression

por Puspasari, Novita, Rowley, Simone M., Gordon, Lavinia, Lockhart, Paul J., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P.
Publicado 2011

Genetic discrimination by Australian insurance companies: a survey of consumer experiences

por Tiller, Jane, Morris, Susan, Rice, Toni, Barter, Krystal, Riaz, Moeen, Keogh, Louise, Delatycki, Martin B., Otlowski, Margaret, Lacaze, Paul
Publicado 2019

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

por Rafehi, Haloom, Green, Cherie, Bozaoglu, Kiymet, Gillies, Greta, Delatycki, Martin B., Lockhart, Paul J., Scheffer, Ingrid E., Bahlo, Melanie
Publicado 2022

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE‐FRDA study

por Selvadurai, Louisa P., Corben, Louise A., Delatycki, Martin B., Storey, Elsdon, Egan, Gary F., Georgiou‐Karistianis, Nellie, Harding, Ian H.
Publicado 2020