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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2023
Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in AustraliaDeborah Schofield, Evelyn Lee, Jayamala Parmar, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditionsLucinda Freeman, Alison D Archibald, Lisa Dive, et al.
Neurology. Genetics|December 26, 2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.
American Journal of Medical Genetics. Part A|April 9, 2015
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoracesGareth Baynam, Angela Overkov, Mark Davis, et al.
Frontiers in Public Health|March 14, 2017
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for GovernmentsCaron M Molster, Karla Lister, Selina Metternick-Jones, et al.
BMJ Open|June 19, 2019
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western AustraliaRoyston Ong, Samantha Edwards, Denise Howting, et al.
Neuromuscular Disorders : NMD|August 9, 2024
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophyLein Dofash, Krishnan Lyengar, Nolette Pereira, et al.
Neuromuscular Disorders : NMD|November 27, 2004
Magnetic resonance imaging of muscle in nemaline myopathyHeinz Jungbluth, Caroline A Sewry, Serena Counsell, et al.
American Journal of Medical Genetics. Part A|March 26, 2003
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotypeLinda S Weaving, Sarah L Williamson, Bruce Bennetts, et al.
Neuromuscular Disorders : NMD|September 2, 2009
Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotypeFrank L Mastaglia, Merrilee Needham, Adrian Scott, et al.
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