S. Broley

发表

A flexible computational pipeline for research analyses of unsolved clinical exome cases

T. Groza, T. Lassmann, J. Blackwell, 2020, npj Genomic Medicine.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.

L. Gallagher, K. Boycott, G. Baynam, 2017, European journal of medical genetics.

Initiating an undiagnosed diseases program in the Western Australian public health system

T. Groza, J. Mattick, J. Beilby, 2017, Orphanet Journal of Rare Diseases.

Acceptance and Commitment Therapy in Genetic Counselling: A Case Study of Recurrent Worry

S. Broley, 2013, Journal of Genetic Counseling.

Silver Russel syndrome in an aboriginal patient from Australia

Gareth Baynam, Stephanie Broley, John Beilby, 2018, American journal of medical genetics. Part A.

Australian guidelines for the management of children with achondroplasia

S. Broley, A. Zankl, R. Savarirayan, 2023, Journal of paediatrics and child health.

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

Timo Lassmann, Gareth Baynam, Tarun Weeramanthri, 2016, Orphanet Journal of Rare Diseases.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

D. Sillence, M. Brown, E. Duncan, 2014, BMC Musculoskeletal Disorders.

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.

G. Baynam, S. Broley, H. Dawkins, 2019, Gene.

A call for global action for rare diseases in Africa

Shuyang Zhang, C. Austin, C. Nellåker, 2019, Nature Genetics.