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Georgie Hollingsworth
Observed institutions:
The University of Melbourne,
Austin Health
OpenAlex ID:
A5062670330
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
2017
·
Fadi F. Hamdan
, Candace T. Myers
, et al.
·
The American Journal of Human Genetics
·
445
PDF
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
2018
·
Gemma L. Carvill
, Krysta L. Engel
, et al.
·
The American Journal of Human Genetics
·
119
PDF
DNM1 encephalopathy
2017
·
Sarah von Spiczak
, Katherine L. Helbig
, et al.
·
Neurology
·
113
PDF
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2020
·
Hannah Stamberger
, Trine B. Hammer
, et al.
·
Genetics in Medicine
·
57
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025
·
Renee Johnson
, Robert A Fletcher
, et al.
·
European Heart Journal
·
20
PDF
Transcriptome analysis of a ring chromosome 20 patient cohort
2020
·
Kenneth A. Myers
, Mark F. Bennett
, et al.
·
Epilepsia
·
10
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
2024
·
Rachel Austin
, Jaye S. Brown
, et al.
·
Genetics in Medicine Open
·
9
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Works count:
7
Citation count:
773
H-index:
7
I10-index:
6
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