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Jessica R. Riseley | Researchclopedia

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Jessica R. Riseley

Victorian Clinical Genetics Services

13

Works

1,116

Citations

8

h-index

8

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Parkinson's Disease Mechanisms and Treatments

Affiliations

Royal Brisbane and Women's Hospital2020–2020

Victorian Clinical Genetics Services2018–2025

Murdoch Children's Research Institute2014–2025

Top Works

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson,Joe C.H. Sim,et al.

2014270 citations

Epilepsy research and treatment

BRCA gene mutations in cancer

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship,Sebastian Lunke,et al.

2020231 citations

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark,Sebastian Lunke,et al.

2018162 citations

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator <i>NPRL3</i>

Joe C. Sim,Thomas Scerri,et al.

2015133 citations

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Katherine B. Howell,Stefanie Eggers,et al.

2018113 citations

Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

Thomas Scerri,Jessica R. Riseley,et al.

2015100 citations

The severe epilepsy syndromes of infancy: A population‐based study

Katherine B. Howell,Jeremy L. Freeman,et al.

202164 citations

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

Sarah Stephenson,Timothy Douglas Aumann,et al.

201827 citations

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

Sebastian Lunke,Lilian Downie,et al.

20258 citations