Mark A Jenkins, Daniel D Buchanan, John Lai, et al.
Journal | JNCI Cancer Spectrum | 2021
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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: An Australian perspective→
/Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean G. Phelan, Melanie O'Keefe, Kirby Siemering, et al.
Journal | Journal of the Neurological Sciences | 2020
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus→
/Ann E. Frazier, Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S.C. Amaraseker, Rocio Rius, Luke E. Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari, Alexis Lucattini, et al.
Journal | Med | 2020
Important factors in implementation of lineage-specific chimerism analysis for routine use→
/Tongted P Das, David A Kipp, David S Kliman, Sushrut S Patil, David J Curtis, Maureen E O'Brien, Michael I Swain, Jacqueline M L Widjaja, Jade L Cooke, Melinda N Ziino, et al.
Journal | Bone Marrow Transplantation | 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families→
/Carolin K Scriba, Sarah J Beecroft, Joshua S Clayton, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Natalia Dominik, Miriam Rodrigues, Elizabeth Walker, Zoe Dyer, Teddy Y Wu, Mark R Davis, David C Chandler, et al.
Journal | Brain | 2020
Genetic susceptibility to hydroxychloroquine retinal toxicity.→
/Heather G. Mack, Tanya Kowalski, Alexis Lucattini, et al.
Journal | Ophthalmic Genetics | 2020
Implications of androgen receptor hyperstimulation by the FKBP51 L119P mutation: no evidence for early emergence of L119P in prostate cancer→
/Bryan K. Ward, Carmel Cluning, Ajanthy Arulpragasam, Jacqueline M. Bentel, David C. Chandler, et al.
Journal | Journal of Steroids and Hormonal Science | 2019
