Adam Bournazos

Affiliations

Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.

Publications (9)

Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.

JCI insight

Avec: Jordan Blondelle , Kavya Tallapaka , Jane T Seto , Majid Ghassemian , Madison Clark , Jenni M Laitila , Adam Bournazos , Jeffrey D Singer , Stephan Lange

Clinical impact of whole-genome sequencing in patients with early-onset dementia.

Journal of neurology, neurosurgery, and psychiatry

Avec: Aamira J Huq , Bryony Thompson , Mark F Bennett , Adam Bournazos , Shobhana Bommireddipalli , Alexandra Gorelik , Joshua Schultz , Adrienne Sexton , Rebecca Purvis , Kirsty West , Megan Cotter , Giulia Valente , Andrew Hughes , Moeen Riaz , Maie Walsh , Sarah Farrand , Samantha M Loi , Trevor Kilpatrick , Amy Brodtmann , David Darby , Dhamidhu Eratne , Mark Walterfang , Martin Bruce Delatycki , Elsdon Storey , Michael Fahey , Sandra Cooper , Paul Lacaze , Colin L Masters , Dennis Velakoulis , Melanie Bahlo , Paul A James , Ingrid Winship

RNA variant assessment using transactivation and transdifferentiation.

American journal of human genetics

Avec: Emmylou C Nicolas-Martinez , Olivia Robinson , Christian Pflueger , Alison Gardner , Mark A Corbett , Tarin Ritchie , Thessa Kroes , Clare L van Eyk , Ingrid E Scheffer , Michael S Hildebrand , Jean-Vianney Barnier , Véronique Rousseau , David Genevieve , Virginie Haushalter , Amélie Piton , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Sophie Nambot , Bertrand Isidor , John Grigg , Tina Gonzalez , Sondhya Ghedia , Rhett G Marchant , Adam Bournazos , Wui-Kwan Wong , Richard I Webster , Frances J Evesson , Kristi J Jones , Auteur inconnu , Sandra T Cooper , Ryan Lister , Jozef Gecz , Lachlan A Jolly

WGS and RNA Studies Diagnose Noncoding

Neurology. Genetics

Avec: Leigh B Waddell , Samantha J Bryen , Beryl B Cummings , Adam Bournazos , Frances J Evesson , Himanshu Joshi , Jamie L Marshall , Taru Tukiainen , Elise Valkanas , Ben Weisburd , Simon Sadedin , Mark R Davis , Fathimath Faiz , Rebecca Gooding , Sarah A Sandaradura , Gina L O'Grady , Michel C Tchan , David R Mowat , Emily C Oates , Michelle A Farrar , Hugo Sampaio , Alan Ma , Katherine Neas , Min-Xia Wang , Amanda Charlton , Charles Chan , Diane N Kenwright , Nicole Graf , Susan Arbuckle , Nigel F Clarke , Daniel G MacArthur , Kristi J Jones , Monkol Lek , Sandra T Cooper

Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.

American journal of physiology. Cell physiology

Avec: Ann-Katrin Piper , Reece A Sophocleous , Samuel E Ross , Frances J Evesson , Omar Saleh , Adam Bournazos , Joe Yasa , Claudia Reed , Natalie Woolger , Ronald Sluyter , Peter Greer , Maté Biro , Frances A Lemckert , Sandra T Cooper

Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

European journal of medical genetics

Avec: Disha Katiyar , Neil Anderson , Shobhana Bommireddipalli , Adam Bournazos , Sandra Cooper , Himanshu Goel

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Human mutation

Avec: Lauren S Akesson , Adam Bournazos , Andrew Fennell , Emma I Krzesinski , Kenneth Tan , Amanda Springer , Katherine Rose , Ilias Goranitis , David Francis , Crystle Lee , Fathimath Faiz , Mark R Davis , John Christodoulou , Sebastian Lunke , Zornitza Stark , Matthew F Hunter , Sandra T Cooper

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.

Neuromuscular disorders : NMD

Avec: Wui-Kwan Wong , Samantha J Bryen , Adam Bournazos , Joe Yasa , Frances Lemckert , Shobhana Bommireddipall , Leigh B Waddell , Manoj P Menezes , Richard Webster , Mark Davis , Christina Liang , Sandra T Cooper , Kristi J Jones

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Neuromuscular disorders : NMD

Avec: Hannah F Jones , Samantha J Bryen , Leigh B Waddell , Adam Bournazos , Mark Davis , Michelle A Farrar , Catriona A McLean , David R Mowat , Hugo Sampaio , Ian R Woodcock , Monique M Ryan , Kristi J Jones , Sandra T Cooper

Réseau de co-auteurs

Sandra T Cooper 6 collaborations

Kristi J Jones 4 collaborations

Frances J Evesson 3 collaborations

Leigh B Waddell 3 collaborations

Samantha J Bryen 3 collaborations

Shobhana Bommireddipalli 2 collaborations

Sandra Cooper 2 collaborations

Wui-Kwan Wong 2 collaborations

Mark R Davis 2 collaborations

Fathimath Faiz 2 collaborations

David R Mowat 2 collaborations

Michelle A Farrar 2 collaborations

Hugo Sampaio 2 collaborations

Joe Yasa 2 collaborations

Mark Davis 2 collaborations

Jordan Blondelle 1 collaboration

Kavya Tallapaka 1 collaboration

Jane T Seto 1 collaboration

Majid Ghassemian 1 collaboration

Madison Clark 1 collaboration

Jenni M Laitila 1 collaboration

Jeffrey D Singer 1 collaboration

Stephan Lange 1 collaboration

Aamira J Huq 1 collaboration

Bryony Thompson 1 collaboration

Mark F Bennett 1 collaboration

Alexandra Gorelik 1 collaboration

Joshua Schultz 1 collaboration

Adrienne Sexton 1 collaboration

Rebecca Purvis 1 collaboration

Kirsty West 1 collaboration

Megan Cotter 1 collaboration

Giulia Valente 1 collaboration

Andrew Hughes 1 collaboration

Moeen Riaz 1 collaboration

Maie Walsh 1 collaboration

Sarah Farrand 1 collaboration

Samantha M Loi 1 collaboration

Trevor Kilpatrick 1 collaboration

Amy Brodtmann 1 collaboration

David Darby 1 collaboration

Dhamidhu Eratne 1 collaboration

Mark Walterfang 1 collaboration

Martin Bruce Delatycki 1 collaboration

Elsdon Storey 1 collaboration

Michael Fahey 1 collaboration

Paul Lacaze 1 collaboration

Colin L Masters 1 collaboration

Dennis Velakoulis 1 collaboration

Melanie Bahlo 1 collaboration

Paul A James 1 collaboration

Ingrid Winship 1 collaboration

Emmylou C Nicolas-Martinez 1 collaboration

Olivia Robinson 1 collaboration

Christian Pflueger 1 collaboration

Alison Gardner 1 collaboration

Mark A Corbett 1 collaboration

Tarin Ritchie 1 collaboration

Thessa Kroes 1 collaboration

Clare L van Eyk 1 collaboration

Ingrid E Scheffer 1 collaboration

Michael S Hildebrand 1 collaboration

Jean-Vianney Barnier 1 collaboration

Véronique Rousseau 1 collaboration

David Genevieve 1 collaboration

Virginie Haushalter 1 collaboration

Amélie Piton 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Ange-Line Bruel 1 collaboration

Sophie Nambot 1 collaboration

Bertrand Isidor 1 collaboration

John Grigg 1 collaboration

Tina Gonzalez 1 collaboration

Sondhya Ghedia 1 collaboration

Rhett G Marchant 1 collaboration

Richard I Webster 1 collaboration

None None 1 collaboration

Ryan Lister 1 collaboration

Jozef Gecz 1 collaboration

Lachlan A Jolly 1 collaboration

Beryl B Cummings 1 collaboration

Himanshu Joshi 1 collaboration

Jamie L Marshall 1 collaboration

Taru Tukiainen 1 collaboration

Elise Valkanas 1 collaboration

Ben Weisburd 1 collaboration

Simon Sadedin 1 collaboration

Rebecca Gooding 1 collaboration

Sarah A Sandaradura 1 collaboration

Gina L O'Grady 1 collaboration

Michel C Tchan 1 collaboration

Emily C Oates 1 collaboration

Alan Ma 1 collaboration

Katherine Neas 1 collaboration

Min-Xia Wang 1 collaboration

Amanda Charlton 1 collaboration

Charles Chan 1 collaboration

Diane N Kenwright 1 collaboration

Nicole Graf 1 collaboration

Susan Arbuckle 1 collaboration

Nigel F Clarke 1 collaboration

Daniel G MacArthur 1 collaboration

Monkol Lek 1 collaboration

Ann-Katrin Piper 1 collaboration

Reece A Sophocleous 1 collaboration

Samuel E Ross 1 collaboration

Omar Saleh 1 collaboration

Claudia Reed 1 collaboration

Natalie Woolger 1 collaboration

Ronald Sluyter 1 collaboration

Peter Greer 1 collaboration

Maté Biro 1 collaboration

Frances A Lemckert 1 collaboration

Disha Katiyar 1 collaboration

Neil Anderson 1 collaboration

Himanshu Goel 1 collaboration

Lauren S Akesson 1 collaboration

Andrew Fennell 1 collaboration

Emma I Krzesinski 1 collaboration

Kenneth Tan 1 collaboration

Amanda Springer 1 collaboration

Katherine Rose 1 collaboration

Ilias Goranitis 1 collaboration

David Francis 1 collaboration

Crystle Lee 1 collaboration

John Christodoulou 1 collaboration

Sebastian Lunke 1 collaboration

Zornitza Stark 1 collaboration

Matthew F Hunter 1 collaboration

Frances Lemckert 1 collaboration

Shobhana Bommireddipall 1 collaboration

Manoj P Menezes 1 collaboration

Richard Webster 1 collaboration

Christina Liang 1 collaboration

Hannah F Jones 1 collaboration

Catriona A McLean 1 collaboration

Ian R Woodcock 1 collaboration

Monique M Ryan 1 collaboration