Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. by Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll

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11: To remap or not to remap: the relevance of the genome references to resolve rare inversions by Claudia M.B. Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M. Grochowski, Davut Pehlivan, Fritz J. Sedlazeck, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud

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