Sarah Vreugde

Dr. Sarah Vreugde

Department of Otorhinolaryngology Head and Neck Surgery, The Queen Elizabeth Hospital, Woodville South, South Australia 5011, Australia

Research Focus & Metrics

Academic Career Length

33Years (1994-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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19 February 2002 in Nature Genetics
Verified
Journal Article
Closed access
Sarah VreugdeSarah Vreugde
Sarah Vreugde
AEAlexandra Erven
Alexandra Erven
CKCorné J. Kros
Corné J. Kros
WMWalter Marcotti
Walter Marcotti
HFHelmut Fuchs
Helmut Fuchs
KSKaren P. Steel
Karen P. Steel

28 May 2002 in Proceedings of the National Academy of Sciences
Verified
Journal Article
Open access
PDF file
TWTomas Walsh
Tomas Walsh
VWVanessa Walsh
Vanessa Walsh
Sarah VreugdeSarah Vreugde
Sarah Vreugde
RHRonna Hertzano
Ronna Hertzano
HSHashem Shahin
Hashem Shahin
KAKaren B. Avraham
Karen B. Avraham
Normal vision in Drosophila requires NINAC, a class III myosin. Class III myosins are hybrid motor-signaling molecules, with an N-terminal kinase domain, highly conserved head and neck domains, and a class III-specific tail domain. In Drosophila rhabdomeres, NINAC interacts with actin filaments and with a PDZ scaffolding protein to organize the phototransduction machinery into a signaling complex. Recessive null mutations in Drosophila NINAC delay termination of the photoreceptor response and lead to progressive retinal degeneration. Here, we show that normal hearing in humans requires myosin IIIA, the human homolog of NINAC. In an extended Israeli family, nonsyndromic progressive hearing loss is caused by three different recessive, loss-of-function mutations in myosin IIIA. Of 18 affected relatives in Family N, 7 are homozygous and 11 are compound heterozygous for pairs of mutant alleles. Expression of mammalian myosin IIIA is highly restricted, with the strongest expression in retina and cochlea. The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems.

9 July 2006 in Nature Cell Biology
Verified
Journal Article
Closed access
PDF file
EFElena Friedmann
Elena Friedmann
EHEhud Hauben
Ehud Hauben
KMKerstin Maylandt
Kerstin Maylandt
SSSimone Schleeger
Simone Schleeger
Sarah VreugdeSarah Vreugde
Sarah Vreugde
BMBruno Martoglio
Bruno Martoglio

24 June 2002 in European Journal of Human Genetics
Verified
Journal Article
Closed access
AAAvital Adato
Avital Adato
Sarah VreugdeSarah Vreugde
Sarah Vreugde
TJTarja Joensuu
Tarja Joensuu
NANili Avidan
Nili Avidan
RHRiikka Hamalainen
Riikka Hamalainen
Doron LancetDoron Lancet
Doron Lancet

13 June 2014 in Allergy
Verified
Journal Article
Closed access
PDF file
DMD. Miljkovic
D. Miljkovic
ABA. Bassiouni
A. Bassiouni
CCC. Cooksley
C. Cooksley
JOJ. Ou
J. Ou
EHEhud Hauben
Ehud Hauben
Sarah VreugdeSarah Vreugde
Sarah Vreugde

4 June 2024 in Microbial Genomics
Verified
Journal Article
Open access
GBGeorge Bouras
George Bouras
LJLouise M. Judd
Louise M. Judd
RERobert Edwards
Robert Edwards
Sarah VreugdeSarah Vreugde
Sarah Vreugde
TSTimothy Stinear
Timothy Stinear
RWRyan R. Wick
Ryan R. Wick
It is now possible to assemble near-perfect bacterial genomes using Oxford Nanopore Technologies (ONT) long reads, but short-read polishing is usually required for perfection. However, the effect of short-read depth on polishing performance is not well understood. Here, we introduce Pypolca (with default and careful parameters) and Polypolish v0.6.0 (with a new careful parameter). We then show that: (1) all polishers other than Pypolca-careful, Polypolish-default and Polypolish-careful commonly introduce false-positive errors at low read depth; (2) most of the benefit of short-read polishing occurs by 25× depth; (3) Polypolish-careful almost never introduces false-positive errors at any depth; and (4) Pypolca-careful is the single most effective polisher. Overall, we recommend the following polishing strategies: Polypolish-careful alone when depth is very low (25×).