Laura Ivete Rudaks

Affiliations

Concord Repatriation General Hospital, Concord, Australia.
Royal North Shore Hospital, St Leonards, Australia.
Faculty of Medicine, University of Sydney, Camperdown, Australia.

ORCID: https://orcid.org/0000-0002-1100-319X

Publications (6)

ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.

American journal of medical genetics. Part A

Avec: James Triplett , Katrina Morris , Stephen Reddel , Lisa Worgan

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

Cerebellum (London, England)

Avec: Dennis Yeow , Karl Ng , Ira W Deveson , Marina L Kennerson , Kishore Raj Kumar

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Parkinsonism & related disorders

Avec: Avi Fellner , Gurusidheshwar M Wali , Neil Mahant , Bianca R Grosz , Melina Ellis , Ramesh K Narayanan , Karl Ng , Ryan L Davis , Michel C Tchan , Katya Kotschet , Dennis Yeow , Laura I Rudaks , Sue-Faye Siow , Gautam Wali , Con Yiannikas , Matthew Hobbs , Joseph Copty , Michael Geaghan , Paul Darveniza , Christina Liang , Laura J Williams , Florence C F Chang , Hugo Morales-Briceño , Stephen Tisch , Michael Hayes , Scott Whyte , Sarah Kummerfeld , Marina L Kennerson , Mark J Cowley , Victor S C Fung , Carolyn M Sue , Kishore R Kumar

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

American journal of medical genetics. Part A

Avec: Laura I Rudaks , Eloise Watson , Carly Oboudiyat , Kishore R Kumar , Patricia Sullivan , Mark J Cowley , Ryan L Davis , Carolyn M Sue

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.

Genes

Avec: Sue-Faye Siow , Dennis Yeow , Laura I Rudaks , Fangzhi Jia , Gautam Wali , Carolyn M Sue , Kishore R Kumar

Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Tremor and other hyperkinetic movements (New York, N.Y.)

Avec: Dennis Yeow , Laura I Rudaks , Sue-Faye Siow , Ryan L Davis , Kishore R Kumar

Réseau de co-auteurs

Dennis Yeow 4 collaborations

Laura I Rudaks 4 collaborations

Kishore R Kumar 4 collaborations

Ryan L Davis 3 collaborations

Sue-Faye Siow 3 collaborations

Carolyn M Sue 3 collaborations

Karl Ng 2 collaborations

Marina L Kennerson 2 collaborations

Gautam Wali 2 collaborations

Mark J Cowley 2 collaborations

James Triplett 1 collaboration

Katrina Morris 1 collaboration

Stephen Reddel 1 collaboration

Lisa Worgan 1 collaboration

Ira W Deveson 1 collaboration

Kishore Raj Kumar 1 collaboration

Avi Fellner 1 collaboration

Gurusidheshwar M Wali 1 collaboration

Neil Mahant 1 collaboration

Bianca R Grosz 1 collaboration

Melina Ellis 1 collaboration

Ramesh K Narayanan 1 collaboration

Michel C Tchan 1 collaboration

Katya Kotschet 1 collaboration

Con Yiannikas 1 collaboration

Matthew Hobbs 1 collaboration

Joseph Copty 1 collaboration

Michael Geaghan 1 collaboration

Paul Darveniza 1 collaboration

Christina Liang 1 collaboration

Laura J Williams 1 collaboration

Florence C F Chang 1 collaboration

Hugo Morales-Briceño 1 collaboration

Stephen Tisch 1 collaboration

Michael Hayes 1 collaboration

Scott Whyte 1 collaboration

Sarah Kummerfeld 1 collaboration

Victor S C Fung 1 collaboration

Eloise Watson 1 collaboration

Carly Oboudiyat 1 collaboration

Patricia Sullivan 1 collaboration

Fangzhi Jia 1 collaboration