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Lisa Ewans

Dr Lisa Ewans

Research Officer

Selected Publications

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  • 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
  • 2019
    Human mutation10.1002/humu.23936

    Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

    Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G Stefan, Helena Ahlfors, Robert Kleyner, Alan Rope, Aimé Lumaka, Prosper Lukusa, Koenraad Devriendt, Joris Vermeesch, Jennifer E Posey, Elizabeth E Palmer, Lucinda Murray, Eyby Leon, Jullianne Diaz, Lisa Worgan, Amalia Mallawaarachchi, Julie Vogt, Sonja A de Munnik, Lauren Dreyer, Gareth Baynam, Lisa Ewans, Zornitza Stark, Sebastian Lunke, Ana R Gonçalves, Gabriela Soares, Jorge Oliveira, Emily Fassi, Marcia Willing, Jeff L Waugh, Laurence Faivre, Jean-Baptiste Riviere, Sebastien Moutton, Shehla Mohammed, Katelyn Payne, Laurence Walsh, Amber Begtrup, Maria J Guillen Sacoto, Ganka Douglas, Nora Alexander, Michael F Buckley, Paul R Mark, Lesley C Adès, Sarah A Sandaradura, James R Lupski, Tony Roscioli, Pankaj B Agrawal, Antonie D Kline, , Kai Wang, H T Marc Timmers, Gholson J Lyon
  • 2018
    American journal of medical genetics. Part A10.1002/ajmg.a.40502

    Silver Russel syndrome in an aboriginal patient from Australia.

    Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, John Beilby, Lisa Ewans, Dylan Gration, Lauren Dreyer, Vinutha Shetty, Ciara Peake, Emma McCormack, Richard Palmer, Barry Lewis, Hugh Dawkins, Stephanie Broley, Gareth Baynam
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