Lek, Monkol
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Hock, Daniella H, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Semcesen, Liana N, Lake, Nicole J, Formosa, Luke E
ORCID: https://orcid.org/0000-0002-7740-6151, Amarasekera, Sumudu SC, Stait, Tegan, Tregoning, Simone, Frajman, Leah E, Bournazos, Adam M, Robinson, David RL, Ball, Megan, Reljic, Boris
ORCID: https://orcid.org/0000-0002-4655-8478, Ryder, Bryony, Wallis, Mathew J, Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B, Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M, McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G, Balasubramaniam, Shanti, Siira, Stefan J, Simons, Cas
ORCID: https://orcid.org/0000-0003-3147-8042, Sallevelt, Suzanne CEH, Ghaoui, Roula, Davis, Ryan L, Murray, Sean, Coman, David, Stojanovski, Diana, Filipovska, Aleksandra, Karlaftis, Vasiliki, Attard, Chantal, Monagle, Paul, Samarasinghe, Amanda, Brown, Rosie, Bi, Weimin, Lek, Monkol, McFarland, Robert, Taylor, Robert, Ryan, Michael T, Cooper, Sandra T, Stark, Zornitza, Christodoulou, John
ORCID: https://orcid.org/0000-0002-8431-0641, Compton, Alison G, Thorburn, David
ORCID: https://orcid.org/0000-0002-7725-9470 and Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383
(2025)
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Genome Medicine, 17 (1).
ISSN 1756-994X
Willems, Sara M, Wright, Daniel J, Day, Felix R, Trajanoska, Katerina, Joshi, Peter K, Morris, John A, Matteini, Amy M, Garton, Fleur, Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J, Lotta, Luca A, Miyamoto-Mikami, Eri, Rivas, Manuel A, White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R, Austin, Krista, Benyamin, Beben, Brage, Søren, Cheng, Yu-Ching, Cieszczyk, Pawel, Derave, Wim, Eriksson, Karl-Fredrik, Eynon, Nir ORCID: https://orcid.org/0000-0003-4046-8276, Linneberg, Allan, Lucia, Alejandro, Massidda, Myosotis, Mitchell, Braxton D, Miyachi, Motohiko, Murakami, Huruka, Padmanabhan, Sandosh, Pandey, Ashutosh, Papadimitriou, Ioannis D, Rajpal, Deepak K, Sale, Craig, Schnurr, Theresia M, Sessa, Francesco, Shrine, Nick, Tobin, Martin D, Varley, Ian, Wain, Louise V, Wray, Naomi R, Lindgren, Cecilia M, MacArthur, Daniel G, Waterworth, Dawn M, McCarthy, Mark I, Pedersen, Oluf, Khaw, Kay-Tee, Kiel, Douglas P, Pitsiladis, Yannis, Fuku, Noriyuki, Franks, Paul W, North, Kathryn N, Van Duijn, Corneila M, Mather, Karen A, Hansen, Torben, Hansson, Ola, Spector, Tim Spector, Murabito, Joanne M, Richards, J. Brent, Rivadeneira, Fernando, Langenberg, Claudia, Perry, John R. B, Wareham, Nick J and Scott, Robert
(2017)
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.
Nature Communications, 8.
Other
Rybalka, Emma ORCID: https://orcid.org/0000-0002-4854-0036, Shieh, Perry B, Jiao, Kexin, Zhu, Wenhua, Saito, Yoshihiko, Koc-Yekeduz, Merve, Upadhyay, Jaymin, Jinnah, Hyder A, Bach, John R, Voorn, Eric, Timpani, Cara
ORCID: https://orcid.org/0000-0003-4567-4319, Stepchenkova, Elena, Hanna-Rose, Wendy, Yammine, Kathryn M, Moghaszadeh, Behzad, Beggs, Alan H
ORCID: https://orcid.org/0000-0001-8818-0568, Brault, Jeffrey J, Huang, Shushu, Lek, Monkol, Wan, Linlin, Pandey, Manoj K, Bordi, Matteo, Evesson, Frances J, Baweja, Naveen and Kakkar, Priyanka
(2026)
Meeting report on the 2nd Clinical and Scientific Conference on ADSS1 myopathy. 24 October 2025, Boston Children’s Hospital, Brookline, Massachusetts, United States of America.
Victoria University, Melbourne, Australia.
(Submitted)
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