Works by Marum, Justine E.

Results: 3
    1

    Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
    By:
    • Kooshavar, Daniz;
    • Amor, David J;
    • Boggs, Kirsten;
    • Baker, Naomi;
    • Barnett, Christopher;
    • Silva, Michelle G de;
    • Edwards, Samantha;
    • Fahey, Michael C;
    • Marum, Justine E;
    • Snell, Penny;
    • Bozaoglu, Kiymet;
    • Pope, Kate;
    • Mohammad, Shekeeb S;
    • Riney, Kate;
    • Sachdev, Rani;
    • Scheffer, Ingrid E;
    • Schenscher, Sarah;
    • Silberstein, John;
    • Smith, Nicholas;
    • Tom, Melanie
    Publication type:
    Article
    2

    Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295
    By:
    • Lim, Sze Chern;
    • Friemel, Martin;
    • Marum, Justine E.;
    • Tucker, Elena J.;
    • Bruno, Damien L.;
    • Riley, Lisa G.;
    • Christodoulou, John;
    • Kirk, Edwin P.;
    • Boneh, Avihu;
    • DeGennaro, Christine M.;
    • Springer, Michael;
    • Mootha, Vamsi K.;
    • Rouault, Tracey A.;
    • Leimkühler, Silke;
    • Thorburn, David R.;
    • Compton, Alison G.
    Publication type:
    Article
    3

    The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1781, doi. 10.3390/jpm12111781
    By:
    • Archibald, Alison D.;
    • McClaren, Belinda J.;
    • Caruana, Jade;
    • Tutty, Erin;
    • King, Emily A.;
    • Halliday, Jane L.;
    • Best, Stephanie;
    • Kanga-Parabia, Anaita;
    • Bennetts, Bruce H.;
    • Cliffe, Corrina C.;
    • Madelli, Evanthia O.;
    • Ho, Gladys;
    • Liebelt, Jan;
    • Long, Janet C.;
    • Braithwaite, Jeffrey;
    • Kennedy, Jillian;
    • Massie, John;
    • Emery, Jon D.;
    • McGaughran, Julie;
    • Marum, Justine E.
    Publication type:
    Article