Not logged inUntargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Hock, Daniella H.; Caruana, Nikeisha J.; Semcesen, Liana N.; Lake, Nicole J.; Formosa, Luke E.; Amarasekera, Sumudu S. C.; Stait, Tegan; Tregoning, Simone; Frajman, Leah E.; Bournazos, Adam M.; Robinson, David R. L.; Ball, Megan; Reljic, Boris; Ryder, Bryony; Wallis, Mathew J.; Vasudevan, Anand; Beck, Cara; Peters, Heidi; Lee, Joy; Tan, Natalie B.; Freckmann, Mary-Louise; Attard, Chantal; Monagle, Paul; Samarasinghe, Amanda; Brown, Rosie; Bi, Weimin; Lek, Monkol; McFarland, Robert; Taylor, Robert W.; Ryan, Michael T.; Cooper, Sandra T.; Stark, Zornitza; Christodoulou, John; Compton, Alison G.; Thorburn, David R.; Stroud, David A. .png)
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SaveUnderstanding speech and language in KIF1A-associated neurological disorderMorison, Lottie D.; Vogel, Adam P.; Christodoulou, John; Gold, Wendy A.; Verden, Dylan; Chung, Wendy K.; Braden, Ruth; Bredebusch, Joanna; Kaur, Simranpreet; Scheffer, Ingrid E.; Morgan, Angela T. Share Save Share Save Share Save Share Save Dismantling barriers to research and clinical care for individuals with a vision impairmentRobertson, Eden G.; Hetherington, Kate; Prain, Meredith; Hall, Julia; Boyd Am, Leighton; Boyd Oam, Rosemary; Shepard, Emily; Feller, Hollie; Karandrews, Sally; O'Hare, Fleur; Yamamoto, Kanae; Simunovic, Matthew P.; Jamieson, Robyn, V; Ma, Alan; Am, Lauren Ayton; Gonzalez-Cordero, Anai Share Save Share Save Can proteomics predict metastatic relapse in leiomyosarcoma (LMS)? Development of an 8 protein signature in a >350 sample study including a validation cohortConnolly, E. A.; Bucio-Noble, D.; Cai, S.; Singh, A.; Koh, J.; Karim, R.; Lazar, A.; Lim, R.; Morey, R.; Ratnayake, G.; Hains, P.; Ye, L.; Ingram, D.; Scott, C. L.; Robinson, P. J.; Barker, H.; Haddad, E. F. Nassif; Horvath, L. G.; Grimison, P.; Reddel, R. Share Save 
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