Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency by Balasubramaniam, S., Riley, L. G., Bratkovic, D., Ketteridge, D., Manton, N., Cowley, M. J., Gayevskiy, V., Roscioli, T., Mohamed, M., Gardeitchik, T., Morava, E., Christodoulou, J.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES by Sullivan, P., Mayoh, C., Wong-Erasmus, M., Gayevskiy, V., Beecroft, S., Pinese, M., Oates, E., Cowley, M.

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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.334 Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagn... by Sullivan, P., Mayoh, C., Wong-Erasmus, M., Gayevskiy, V., Beecroft, S., Pinese, M., Oates, E., Cowley, M.

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P1.04-11 Exploring the Germ-Line Contribution to Exceptional Response to PD-1/PD-L1 Inhibition in Patients with NSCLC by Whole Genome Sequencing by Barnet, M., Jackson, K., Gao, B., Nagrial, A., Boyer, M., Cooper, W., Hui, R., Linton, A., Tattersall, M., Russell, A., Gibson, G., Cebon, J., Long, G., Menzies, A., Scolyer, R., Lacaze, P., Brink, R., Peters, T., Cowley, M., Gayevskiy, V., Thomas, D., Pinese, M., Blinman, P., Kao, S., Goodnow, C.

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Radiothermometers for measuring internal temperature of biological objects by Sakalo, S., Bulgakov, V., Gayevskiy, V.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome by Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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Abstract LB-121: Exploring the germ-line contribution to exceptional response to PD-1/PD-L1 inhibition in patients with metastatic non-small-cell lung cancer by whole genome sequen... by Barnet, Megan B., Jackson, Katherine J., Gao, Bo, Nagrial, Adnan M., Boyer, Michael J., Cooper, Wendy A., Hui, Rina, Linton, Anthony, Tattersall, Martin H., Gibson, Greg, Cebon, Jonathan, Long, Georgina V., Menzies, Alexander M., Scolyer, Richard A., Lacaze, Paul, Brink, Robert, Peters, Timothy, Cowley, Mark, Gayevskiy, Velimir, Thomas, David M., Pinese, Mark, Blinman, Prunella, Kao, Steven, Goodnow, Christopher C.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome by Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Jalal Ahmed, Heba M., Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, Marıá Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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