Zornitza Stark

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 78

Top Venues

European journal of human genetics : EJHG

Life science alliance

medRxiv : the preprint server for health sciences

International journal of neonatal screening

Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd

Australia

Clinical Geneticist

Publications

Zoe Fehlberg, Zornitza Stark, Stephanie Best
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study. European journal of human genetics : EJHG (2024)
Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Zoe Fehlberg, Zornitza Stark, Stephanie Best
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study. European journal of human genetics : EJHG 32 (5) (2024)
Zoe Fehlberg, Zornitza Stark, Stephanie Best
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study. European journal of human genetics : EJHG 32 (5) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Alan J Robertson, Andrew John Mallett, Zornitza Stark, Clair Sullivan
It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine. JMIR bioinformatics and biotechnology 5 (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Alan J Robertson, Andrew John Mallett, Zornitza Stark, Clair Sullivan
It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine. JMIR bioinformatics and biotechnology 5 (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study. Clinical journal of the American Society of Nephrology : CJASN (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Stephanie Best, Zoe Fehlberg, Christopher Richards, Michael C J Quinn, Sebastian Lunke, Amanda B Spurdle, Karin S Kassahn, Chirag Patel, Danya F Vears, Ilias Goranitis, Fiona Lynch, Alan Robertson, Emma Tudini, John Chrisodoulou, Hamish S Scott, Julie McGaughran, Zornitza Stark
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services. European journal of human genetics : EJHG (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Alan J Robertson, Andrew John Mallett, Zornitza Stark, Clair Sullivan
It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine. JMIR bioinformatics and biotechnology 5 (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Zoe Fehlberg, Zornitza Stark, Stephanie Best
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study. European journal of human genetics : EJHG 32 (5) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Carol J Saunders, Luca Brunelli, Michael J Deem, Emily G Farrow, Madhuri Hegde, Zornitza Stark
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now? Clinical chemistry 70 (4) (2024)
Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Erin Tutty, Alison D Archibald, Lilian Downie, Clara L Gaff, Sebastian Lunke, Danya F Vears, Zornitza Stark, Stephanie Best
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework. European journal of human genetics : EJHG (2024)
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison Dalton Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. International journal of neonatal screening 10 (1) (2024)
Zoe Fehlberg, Zornitza Stark, Stephanie Best
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study. European journal of human genetics : EJHG 32 (5) (2024)
Andrew H Crosby, Richard H Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah L Wynn, Dominic J C Wilkinson, Sian Ellard, Daniel G MacArthur, Zornitza Stark
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nature medicine 30 (7) (2024)
Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie E Bouffler, Yvonne Bombard, Clara L Gaff, Zornitza Stark
Eliciting parental preferences and values for the return of additional findings from genomic sequencing. NPJ genomic medicine 9 (1) (2024)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Ari E Horton, Sebastian Lunke, Simon Sadedin, Andrew Paul Fennell, Zornitza Stark
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? European journal of human genetics : EJHG (2023)
Sachini Poogoda, Fiona Lynch, Zornitza Stark, Dominic Wilkinson, Julian Savulescu, Danya F Vears, Christopher Gyngell
Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants. Children (Basel, Switzerland) 10 (6) (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Sachini Poogoda, Fiona Lynch, Zornitza Stark, Dominic Wilkinson, Julian Savulescu, Danya F Vears, Christopher Gyngell
Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants. Children (Basel, Switzerland) 10 (6) (2023)
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong T Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Chrisodoulou, Zornitza Stark
Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature medicine (2023)
Danya F Vears, Fiona Lynch, Amy Nisselle, Samantha Ayres, Zornitza Stark
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia. European journal of human genetics : EJHG (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Dylan A Mordaunt, Kim Dalziel, Ilias Goranitis, Zornitza Stark
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia. European journal of human genetics : EJHG (2023)
Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Motorin Yuri, Clément Carré
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. Life science alliance 6 (4) (2023)
Ari E Horton, Sebastian Lunke, Simon Sadedin, Andrew Paul Fennell, Zornitza Stark
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? European journal of human genetics : EJHG (2023)
Zornitza Stark, Richard H Scott
Genomic newborn screening for rare diseases. Nature reviews. Genetics (2023)
Ari E Horton, Sebastian Lunke, Simon Sadedin, Andrew Paul Fennell, Zornitza Stark
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis? European journal of human genetics : EJHG (2023)
Katie Arkell, Christopher Gyngell, Zornitza Stark, Danya F Vears
Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges. Children (Basel, Switzerland) 10 (5) (2023)
Rosie O'Shea, Alasdair Wood, Chirag Patel, Hugh J McCarthy, Amali Mallawaarachchi, Catherine Quinlan, Cas Simons, Zornitza Stark, Andrew John Mallett
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study. Genes 13 (10) (2022)
Nicole J Van Bergen, Daniella Helena Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M Ryan, Colleen D'Arcy, Margot Nash, Sile Smith, Nikeisha J Caruana, David R Thorburn, David Arthur Stroud, Susan M White, John Chrisodoulou, Natasha J Brown
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function. International journal of molecular sciences 23 (2) (2022)
Arushi Kansal, Catherine Quinlan, Zornitza Stark, Peter G Kerr, Andrew John Mallett, Chandni Lakshmanan, Stephanie Best, Kushani Jayasinghe
Theory Designed Strategies to Support Implementation of Genomics in Nephrology. Genes 13 (10) (2022)
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. American journal of medical genetics. Part A 188 (12) (2022)
Fiona Lynch, Amy Nisselle, Zornitza Stark, Clara L Gaff, Belinda J McClaren
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery. European journal of human genetics : EJHG 30 (11) (2022)
Gemma R Brett, Aisha Ward, Sophie E Bouffler, Emma Elizabeth Palmer, Kirsten Boggs, Fiona Lynch, Amanda Springer, Amy Nisselle, Zornitza Stark
Co-design, implementation, and evaluation of plain language genomic test reports. NPJ genomic medicine 7 (1) (2022)
Sebastian Lunke, Zornitza Stark
Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside? Clinical chemistry 68 (12) (2022)
Hilary Bowman-Smart, Danya F Vears, Gemma R Brett, Melissa Martyn, Zornitza Stark, Christopher Gyngell
'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning. European journal of human genetics : EJHG 30 (9) (2022)
David I Francis, Zornitza Stark, Ingrid E Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J Amor, Himanshu Goel, Lilian Downie, Chloe A Stutterd, Emma I Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. European journal of human genetics : EJHG (2022)
Ari E Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy K Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Chrisodoulou, Sebastian Lunke, Zornitza Stark, Michael Collingwood Fahey
Ethylmalonic encephalopathy masquerading as meningococcemia. Cold Spring Harbor molecular case studies 8 (2) (2022)
Stephanie Best, Helen L Brown, Zornitza Stark, Janet C Long, Larissa Ng, Jeffrey Braithwaite, Natalie Taylor
Teamwork in clinical genomics: A dynamic sociotechnical healthcare setting. Journal of evaluation in clinical practice 27 (6) (2021)
Fiona Lynch, Amy Nisselle, Zornitza Stark, Clara L Gaff, Belinda J McClaren
Parents' experiences of decision making for rapid genomic sequencing in intensive care. European journal of human genetics : EJHG 29 (12) (2021)
Andrew John Mallett, Nine Knoers, John Andrew Sayer, Zornitza Stark
Clinical versus research genomics in kidney disease. Nature reviews. Nephrology 17 (9) (2021)
Lisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Chrisodoulou
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Human mutation 41 (8) (2021)
Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A Genovesi, Rannvá K Abrahamsen, Christina D Fenger, Camilla G Madsen, Julie S Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K Hansen, Martin F Boxill, Boris Keren, Isabelle Marey, Margarita S Saenz, Kathleen Brown, Suzanne A Alexander, Sergey Mureev, Alina Batzilla, Melissa J Davis, Michael Piper, Mikael Boden, Thomas H J Burne, Nathan J Palpant, Rikke S Møller, Sebastian Glatt, Brandon J Wainwright
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nature communications 12 (1) (2021)
Ilias Goranitis, Stephanie Best, John Chrisodoulou, Tiffany F Boughtwood, Zornitza Stark
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment. European journal of human genetics : EJHG 29 (11) (2021)
Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher P Barnett, Meredith Wilson, Sarah A Sandaradura, Belinda McClaren, Gemma R Brett, Jeffrey Braithwaite, Zornitza Stark
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level. NPJ genomic medicine 6 (1) (2021)
Zornitza Stark, Sian Ellard
Rapid genomic testing for critically ill children: time to become standard of care? European journal of human genetics : EJHG (2021)
Guy Helman, Alison G Compton, Daniella Helena Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Yang Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Chrisodoulou, Susan M White, David R Thorburn, David Arthur Stroud, Zornitza Stark, Cas Simons
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Human mutation 42 (1) (2020)
Lauren S Akesson, Adam M 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
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Human mutation 41 (11) (2020)
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens, Grazia M S Mancini, Rachel Schot, Dicky Halley, Martina Wilke, Arve Vøllo, Frances Flinter, Andrew Green, Sahar Mansour, Jacek Pilch, Zornitza Stark, Eleni Zamba-Papanicolaou, Violetta Christophidou-Anastasiadou, Robert M W Hofstra, Jan D H Jongbloed, Nayia Nicolaou, George A Tanteles, Alice S Brooks, Maria M Alves
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Human mutation 41 (11) (2020)
Deborah Schofield, Luke Rynehart, Rupendra N Shrestha, Susan M White, Zornitza Stark
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Samantha Ayres, Lyndon Gallacher, Zornitza Stark, Gemma R Brett
Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates. Journal of genetic counseling 28 (2) (2019)
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra N Shrestha, Susan M White, Clara Gaff
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan A Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, Emma Creed, Ivan Macciocca, Katrina M Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, null Melbourne Genomics Health Alliance, Clara Gaff, Susan M White
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)
Brian T Wilson, Zornitza Stark, Ruth E Sutton, Sumita Danda, Alka V Ekbote, Solaf M Elsayed, Louise Gibson, Judith A Goodship, Andrew P Jackson, Wee Teik Keng, Mary D King, Emma McCann, Toshino Motojima, Jennifer E Murray, Taku Omata, Daniela Pilz, Kate Pope, Katsuo Sugita, Susan M White, Ian J Wilson
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genetics in medicine : official journal of the American College of Medical Genetics 18 (5) (2015)

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Zornitza Stark