Publications by authors named "Dean G Phelan"

11Publications

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Hum Mutat 2018 12 17;39(12):1995-2007. Epub 2018 Sep 17.

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.23639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240357PMC
December 2018

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Eur Heart J 2016 Sep 22;37(33):2586-90. Epub 2016 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville 3052, Victoria, Australia Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville 3052, Victoria, Australia

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http://dx.doi.org/10.1093/eurheartj/ehw160DOI Listing
September 2016

Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification.

J Cardiovasc Electrophysiol 2011 Sep 2;22(9):1073-6. Epub 2011 Feb 2.

The Royal Children's Hospital Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1540-8167.2010.02003.xDOI Listing
September 2011