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Lisa Ewans

Dr Lisa Ewans

Role
Research Officer

Dr Lisa Ewans is a Clinician Researcher who focuses on increasing diagnosis through genomics and novel methods and translating these to the clinic to improve patient outcomes. Her current research is in building pathways for undiagnosed individuals with suspected rare genetic conditions to access research genomics for diagnosis and evaluating the utility of genetic and genomic testing from a clinician and patient perspective.

Dr Ewans is a Clinical Geneticist at Sydney Children’s Hospitals Network where she co-manages a rare disease registry and co-leads the national Kleefstra syndrome clinic. Her PhD through UNSW and the Garvan improved diagnosis by 60% in individuals with undiagnosed rare genetic conditions through exome and genome sequencing.

Selected publications

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  • 2026
    Genetics in Medicine : Official Journal of the American College of Medical Genetics10.1016/j.gim.2026.102070

    International Clinical Evidence-based Guideline for Kleefstra Syndrome.

    Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, Tanja Zdolsek Draksler, Dmitrijs Rots, Joyce M Geelen, Lottie D Morison, Angela T Morgan, Dorota Wicher, Sabrina Rivero, Inés Fernández-Ulibarri, Julie Drake, Anne O'Donnell Luria, Laura Pickup, Carolyn Shalhoub, Donatella Milani, Raoul C Hennekam, Birute Tumiene, Kira A Dies, Livia Garavelli, Maria Francesca Bedeschi, Alberto Danieli, Lara V van Renssen, Elizabeth E Palmer, Isabelle Grosdemouge, Kinga Hadzsiev, Lilian Bomme Ousager, Zoë Frazier, Maya Chopra, Katalin Szakszon, Lisa Ewans, Siddharth Srivastava, Nicoletta Balbo, Ettore Caterino, Annette Schenck, Ryan Smith, F Nienke Boonstra, Sietske A L van Till, Sunil K Vasireddi, Hon-Yin Brian Chung, Mirthe J Klein Haneveld, Klea Vyshka, , Tjitske Kleefstra
  • 2024
    Nature10.1038/s41586-024-07773-7

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

    Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David J Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias Haack, Jenny E Higgs, Anjali G Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline F Wright, 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 O'Donnell-Luria, Nicola Whiffin
  • 2024
    MedRxiv : The Preprint Server for Health Sciences10.1101/2024.04.07.24305438

    variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.

    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 A Cunningham, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly 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 S Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Elizabeth E Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A 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 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 Mm Howson, Stephan J Sanders, Anne O'Donnell-Luria, Nicola Whiffin
  • 2023
    Orphanet Journal of Rare Diseases10.1186/s13023-023-02966-1

    International Undiagnosed Diseases Programs (UDPs): components and outcomes.

    Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer
  • 2022
    Genetics in Medicine : Official Journal of the American College of Medical Genetics10.1016/j.gim.2022.04.021

    Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.

    Pei Dai, Andrew Honda, Lisa Ewans, Julie McGaughran, Leslie Burnett, Matthew Law, Tri Giang Phan