Elizabeth Rose

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

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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..

Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss

Valerie Sung, Lilian Downie, Georgia A Paxton, Karen Liddle, Catherine S Birman, Wei Wei Chan, Carolyn Cottier, Alison Harris, Matthew Hunter, Elizabeth Peadon, Kenneth Peacock, Laurence Roddick, Elizabeth Rose, Kerryn Saunders, David J Amor

Journal article  |  2019  |  Journal of Paediatrics and Child Health

Laryngeal ultrasound detects a high incidence of vocal cord paresis after aortic arch repair in neonates and young children

Melissa GY Lee, Johnny Millar, Elizabeth Rose, Aleesha Jones, Dora Wood, Taryn L Luitingh, Diana Zannino, Johann Brink, Igor E Konstantinov, Christian P Brizard, Yves d'Udekem

Journal article  |  2018  |  Journal of Thoracic and Cardiovascular Surgery

A Standard Set of Outcome Measures for the Comprehensive Appraisal of Cleft Care

Alexander C Allori, Thomas Kelley, John G Meara, Asteria Albert, Krishnamurthy Bonanthaya, Kathy Chapman, Michael Cunningham, John Daskalogiannakis, Henriette de Gier, Andrew A Heggie, Cristina Hernandez, Oksana Jackson, Yin Jones, Loshan Kangesu, Maarten J Koudstaal, Rajiv Kuchhal, Anette Lohmander, Ross E Long, Leanne Magee, Laura Monson, et al.

Conference Proceedings  |  2017  |  The Cleft Palate-Craniofacial Journal

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

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

Journal article  |  2017  |  BMJ Paediatrics Open

Introduction: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents..

Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness

Kerry A Miller, Louise H Williams, Elizabeth Rose, Michael Kuiper, Hans-Henrik M Dahl, Shehnaaz SM Manji

Journal article  |  2012  |  PLoS One

MYCOTIC PSEUDOANEURYSM OF THE LINGUAL ARTERY: A RARE COMPLICATION OF PARAPHARYNGEAL ABSCESS

Keith Badloo, Eric Levi, Lilian Downie, Elizabeth Rose, Timothy Wagner, Lionel Lubitz

Journal article  |  2012  |  Journal of Paediatrics and Child Health

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

Shehnaaz SM Manji, Kerry A Miller, Louise H Williams, Lotte Andreasen, Maria Siboe, Elizabeth Rose, Melanie Bahlo, Michael Kuiper, Hans-Henrik M Dahl

Journal article  |  2011  |  American Journal of Pathology

Audiology

Elizabeth Rose

Journal article  |  2011  |  Australian Family Physician