Lisa Worgan
Overview
Explore the profile of Lisa Worgan including associated specialties, affiliations and a list of published articles.
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17
Citations
376
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Recent Articles
1.
Rudaks L, Stevanovski I, Yeow D, Reis A, Chintalaphani S, Cheong P, et al.
Ann Clin Transl Neurol
. 2025 Feb;
PMID: 40007153
Objective: The hereditary spastic-ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline...
2.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, et al.
Mov Disord Clin Pract
. 2024 Mar;
11(5):582-585.
PMID: 38497520
No abstract available.
3.
Rudaks L, Triplett J, Morris K, Reddel S, Worgan L
Am J Med Genet A
. 2023 Oct;
194(2):346-350.
PMID: 37789430
Acyl-CoA-binding domain-containing protein 5-related retinal dystrophy with leukodystrophy (ACBD5) is a peroxisomal disorder due to deficiency of ACBD5. Presenting features include retinal dystrophy, progressive leukodystrophy, and ataxia. Only seven cases...
4.
Nishide M, Le Marquand K, Davis M, Halmagyi G, Fellner A, Narayanan R, et al.
Cerebellum
. 2023 Jan;
23(1):268-277.
PMID: 36696030
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar...
5.
Ewans L, Minoche A, Schofield D, Shrestha R, Puttick C, Zhu Y, et al.
Eur J Hum Genet
. 2022 Aug;
30(10):1121-1131.
PMID: 35970915
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of...
6.
Yuen M, Worgan L, Iwanski J, Pappas C, Joshi H, Churko J, et al.
Eur J Hum Genet
. 2022 Jan;
30(4):450-457.
PMID: 35082396
Dilated cardiomyopathy (DCM) is characterized by cardiac enlargement and impaired ventricular contractility leading to heart failure. A single report identified variants in leiomodin-2 (LMOD2) as a cause of neonatally-lethal DCM....
7.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
8.
Davids M, Menezes M, Guo Y, McLean S, Hakonarson H, Collins F, et al.
Mol Genet Metab
. 2020 Mar;
130(1):49-57.
PMID: 32165008
Background: Mutations in the ARV1 Homolog, Fatty Acid Homeostasis Modulator (ARV1), have recently been described in association with early infantile epileptic encephalopathy 38. Affected individuals presented with epilepsy, ataxia, profound...
9.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, et al.
Hum Mutat
. 2019 Oct;
PMID: 31646703
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The...
10.
Josephi-Taylor S, Barlow-Stewart K, Selvanathan A, Roscioli T, Bittles A, Meiser B, et al.
J Genet Couns
. 2019 Apr;
28(2):240-250.
PMID: 30964588
The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions. Semi-structured interviews...