A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding

- Painter, Jodie N., Kaufmann, Susanne, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., O'Mara, Tracy A., Spurdle, Amanda B., Edwards, Stacey L., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola

A Menin-MLL inhibitor induces specific chromatin changes and eradicates disease in models of MLL-rearranged leukemia

- Krivtsov, Andrei V., Evans, Kathryn, McDermott, Lisa, Jones, Connor D., Jing, Duohui, Braytee, Ali, Chacon, Diego, Earley, Eric, McKeever, Brian M., Claremon, David, Gifford, Andrew J., Lee, Heather J., Gadrey, Jayant Y., Teicher, Beverley A., Pimanda, John E., Beck, Dominik, Perry, Jennifer A., Smith, Malcolm A., McGeehan, Gerard M., Lock, Richard B., Armstrong, Scott A., Eschle, Benjamin K., Hatton, Charlie, Uckelmann, Hannah J., Ross, Kenneth N., Perner, Florian, Olsen, Sarah N., Pritchard, Tara

A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

- Palmer, Elizabeth E., Kumar, Raman, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Gordon, Christopher T., Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, Shaw, Marie, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Hubert, Laurence, Field, Michael, Gecz, Jozef, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy

Acrylamide modulates the mouse epididymal proteome to drive alterations in the sperm small non-coding RNA profile and dysregulate embryo development

- Trigg, Natalie A., Skerrett-Byrne, David A., Xavier, Miguel J., Zhou, Wei, Anderson, Amanda L., Stanger, Simone J., Katen, Aimee L., De Iuliis, Geoffry N., Dun, Matthew D., Roman, Shaun D., Eamens, Andrew L., Nixon, Brett

Adult cardiac-resident MSC-like stem cells with a proepicardial origin

- Chong, James J. H., Chandrakanthan, Vashe, Biben, Christine, Zoellner, Hans, Colvin, Emily K., Pimanda, John E., Biankin, Andrew V., Zhou, Bin, Pu, William T., Prall, Owen W. J., Harvey, Richard P., Xaymardan, Munira, Asli, Naisana S., Li, Joan, Ahmed, Ishtiaq, Heffernan, Corey, Menon, Mary K., Scarlett, Christopher J., Rashidianfar, Amirsalar

Amygdala NPY circuits promote the development of accelerated obesity under chronic stress conditions

- Ip, Chi K., Zhang, Lei, Begg, Denovan, Brüning, Jens C., Lee, Nicola J., Hernandez-Sanchez, Diana, Gopalasingam, Gopana, Koller, Julia, Tasan, Ramon, Sperk, Günther, Herzog, Herbert, Farzi, Aitak, Qi, Yue, Clarke, Ireni, Reed, Felicia, Shi, Yan-Chuan, Enriquez, Ronaldo, Dayas, Chris, Graham, Bret

Amygdala-Cortical Control of Striatal Plasticity Drives the Acquisition of Goal-Directed Action

- Fisher, Simon D., Ferguson, Lachlan A., Bertran-Gonzalez, Jesus, Balleine, Bernard W.

An immune atlas of clear cell renal cell carcinoma

- Chevrier, Stephane, Levine, Jacob Harrison, van den Broek, Maries, Beisel, Christian, Stadler, Michael Beda, Gedye, Craig, Reis, Bernhard, Pe'er, Dana, Bodenmiller, Bernd, Zanotelli, Vito Riccardo Tomaso, Silina, Karina, Schulz, Daniel, Bacac, Marina, Ries, Carola Hermine, Ailles, Laurie, Jewett, Michael Alexander Spencer, Moch, Holger

Assembly rules of reef corals are flexible along a steep climatic gradient

- Hughes, Terry P., Baird, Andrew H., Dinsdale, Elizabeth A., Moltschaniwskyj, Natalie A., Pratchett, Morgan S., Tanner, Jason E., Willis, Bette L.

Australian Brain Alliance

- Richards, L. R., Michie, P. T., Hickie, I. B., Mattingley, J. B., Schofield, P. R., Shum, D. H. K., Stuart, G. J., Vickers, J. C., Vissel, B., Badcock, D. R., Bartlett, P. F., Bekkers, J. M., Bourne, J. A., Castles, A., Egan, G. F., Fornito, A., Hannan, A. J.

Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia

- Kasak, Laura, Punab, Margus, Smith, Lee B., Conrad, Donald F., Laan, Maris, Nagirnaja, Liina, Grigorova, Marina, Minajeva, Ave, Lopes, Alexandra M., Punab, Anna Maria, Aston, Kenneth I., Carvalho, Filipa, Laasik, Eve

Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS

- Rafehi, Haloom, Szmulewicz, David J., Barcina, Maria Garcia, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Bennett, Mark F., Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R. D., Wilson, Michael A., Zee, David S., Valle, David, Sobreira, Nara L. M., Amor, David J., Bahlo, Melanie, Lockhart, Paul J., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A.

Ca²⁺ oscillations promote APC/C-dependent cyclin B1 degradation during metaphase arrest and completion of meiosis in fertilizing mouse eggs

- Nixon, Victoria L., Levasseur, Mark, McDougall, Alex, Jones, Keith T.

Cell lineage tracing identifies hormone-regulated and Wnt-responsive vaginal epithelial stem cells

- Ali, Ayesha, Syed, Shafiq M., Jamaluddin, M. Fairuz B., Colino-Sanguino, Yolanda, Gallego-Ortega, David, Tanwar, Pradeep S.

Control of sarcoplasmic reticulum Ca²⁺ release by stochastic RyR gating within a 3D model of the cardiac dyad and importance of induction decay for CICR termination

- Cannell, M. B., Kong, C. H. T., Imtiaz, M. S., Laver, D. R.

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu

DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency

- Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sacha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Goel, Himanshu

Exome-derived adiponectin-associated variants implicate obesity and lipid biology

- Spracklen, Casandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Pennell, Craig E., Wang, Carol A.

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

- Ligthart, Symen, Vaez, Ahmad, Võsa, Urmo, Stathopoulou, Maria G., de Vries, Paul S., Prins, Bram P., Van der Most, Peter J., Tanaka, Toshiko, Naderi, Elnaz, Rose, Lynda M., Wu, Ying, Karlsson, Robert, Barbalic, Maja, Lin, Honghuang, Pool, René, Zhu, Gu, Macé, Aurélien, Sidore, Carlo, Trompet, Stella, Mangino, Massimo, Sabater-Lleal, Maria, Oldmeadow, Christopher, Holliday, Elizabeth G., Attia, John R., Scott, Rodney J., McEvoy, Mark

Genome-scale oscillations in DNA methylation during exit from pluripotency

- Rulands, Steffen, Lee, Heather J., Kelsey, Gavin, Stegle, Oliver, Simons, Benjamin D., Reik, Wolf, Clark, Stephen J., Angermueller, Christof, Smallwood, Sébastien A., Krueger, Felix, Mohammed, Hisham, Dean, Wendy, Nichols, Jennifer, Rugg-Gunn, Peter