Publications by authors named "Stefanie Eggers"

22Publications

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.

Clin Case Rep 2019 Dec 12;7(12):2476-2482. Epub 2019 Nov 12.

Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.2511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606PMC
December 2019

The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji.

Microbiome 2019 07 16;7(1):106. Epub 2019 Jul 16.

Infection and Immunity, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40168-019-0716-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636143PMC
July 2019

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

Clin Endocrinol (Oxf) 2016 08 4;85(2):247-57. Epub 2016 Apr 4.

Department of Paediatrics, Division of Endocrinology, Sophia Children's Hospital, Erasmus University Medical Centre, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.13051DOI Listing
August 2016

Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat.

Gigascience 2015 26;4:55. Epub 2015 Nov 26.

Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, VIC 3084 Australia ; Department of Pathology, The University of Melbourne, Parkville, VIC 3052 Australia ; Division of Cancer Medicine, La Trobe University, Bundoora, VIC 3086 Australia ; School of Cancer Medicine, La Trobe University, Bundoora, VIC 3084 Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13742-015-0098-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660811PMC
July 2016

Copy number variation associated with meiotic arrest in idiopathic male infertility.

Fertil Steril 2015 Jan 25;103(1):214-9. Epub 2014 Oct 25.

Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2014.09.030DOI Listing
January 2015

Genetic regulation of mammalian gonad development.

Nat Rev Endocrinol 2014 Nov 23;10(11):673-83. Epub 2014 Sep 23.

Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, 50 Flemington Road, Melbourne, VIC 3052, Australia.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nrendo.2014.163
Publisher Site
http://dx.doi.org/10.1038/nrendo.2014.163DOI Listing
November 2014

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eur J Hum Genet 2015 Apr 6;23(4):486-93. Epub 2014 Aug 6.

1] Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666572PMC
April 2015

Mammalian sex determination—insights from humans and mice.

Chromosome Res 2012 Jan;20(1):215-38

Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10577-012-9274-3
Publisher Site
http://dx.doi.org/10.1007/s10577-012-9274-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279640PMC
January 2012

Detecting DNaseI-hypersensitivity sites with MLPA.

Methods Mol Biol 2012 ;786:201-10

Molecular Development Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-61779-292-2_12DOI Listing
February 2012

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach.

BMC Genomics 2009 Sep 4;10:412. Epub 2009 Sep 4.

Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-10-412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748097PMC
September 2009