Rachel Burt

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death (vol 100, pg 797, 2022)

Jacqueline M Ogier, Yujing Gao, Eileen M Dunne, Michael A Wilson, Sarath C Ranganathan, Gregory H Tesch, David J Nikolic Paterson, Alain Dabdoub, Rachel A Burt, Bryony A Nayagam, Paul J Lockhart

Journal article  |  2022  |  JOURNAL OF MOLECULAR MEDICINE-JMM

The numbers 432 and 433 found in the 6th paragraph of the Discussion section is not included in this paper and should be removed. ..

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

Jacqueline M Ogier, Yujing Gao, Eileen M Dunne, Michael A Wilson, Sarath C Ranganathan, Gregory H Tesch, David JNikolic Paterson, Alain Dabdoub, Rachel A Burt, Bryony A Nayagam, Paul J Lockhart

Journal article  |  2022  |  JOURNAL OF MOLECULAR MEDICINE-JMM

Aminoglycoside antibiotics are lifesaving medicines, crucial for the treatment of chronic or drug resistant infections. However, a..

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T Booth, Karen B Avraham, Hannie Kremer, Andrew J Griffith, et al.

Journal article  |  2021  |  Genet Med

PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Us..

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (vol 28, pg 587, 2020)

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L Rehm, David J Amor

Journal article  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

In Table 3, on pages 591–592 of the original article, in the fourth row of the table, an alteration in GJB2 is shown as “c.429G>A ..

In vivo base editing restores sensory transduction and transiently improves auditory function in a mouse model of recessive deafness.

Wei-Hsi Yeh, Olga Shubina-Oleinik, Jonathan M Levy, Bifeng Pan, Gregory A Newby, Michael Wornow, Rachel Burt, Jonathan C Chen, Jeffrey R Holt, David R Liu

Journal article  |  2020  |  Sci Transl Med

Most genetic diseases arise from recessive point mutations that require correction, rather than disruption, of the pathogenic alle..

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Zeffie Poulakis, Clara Gaff, Valerie Sung, Melissa Wake, Matthew F Hunter, Kerryn Saunders, Elizabeth Rose, Sharon Lewis, Anna Jarmolowicz, Dean Phelan, Heidi L Rehm, David J Amor

Journal article  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital hearing impairment (HI) is the most common sensory impairment and can be isolated or part of a syndrome. Diagnosis thro..

Intravenously delivered aminoglycoside antibiotics, tobramycin and amikacin, are not ototoxic in mice

Jacqueline M Ogier, Paul J Lockhart, Rachel A Burt

Journal article  |  2020  |  HEARING RESEARCH

Many drugs on the World Health Organization's list of critical medicines are ototoxic, destroying sensory hair cells within the ea..

Data Resource Profile: The Victorian Childhood Hearing Impairment Longitudinal Databank (VicCHILD)

Valerie Sung, Libby Smith, Zeffie Poulakis, Rachel A Burt, Peter Carew, Sherryn Tobin, Melissa Wake

Journal article  |  2019  |  INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Prevalence of Childhood Hearing Loss and Secular Trends: A Systematic Review and Meta-Analysis

Jing Wang, Valerie Sung, Peter Carew, Rachel A Burt, Mengjiao Liu, Yichao Wang, Aflah Afandi, Melissa Wake

Journal article  |  2019  |  ACADEMIC PEDIATRICS

BACKGROUND: Better epidemiologic information on childhood hearing loss would inform research priorities and efforts to prevent its..

Effect of a pneumococcal whole cell vaccine on influenza A-induced pneumococcal otitis media in infant mice

Jayne Manning, Eileen M Dunne, Nancy Wang, John S Pedersen, Jacqueline M Ogier, Rachel A Burt, E Kim Mulholland, Roy M Robins-Browne, Richard Malley, Odilia L Wijburg, Catherine Satzke

Journal article  |  2019  |  VACCINE

The pneumococcus remains a common cause of otitis media (OM) despite the widespread introduction of pneumococcal conjugate vaccine..