Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

- Meester, Josephina A. N., Hebert, Anne, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Bastiaansen, Maaike, Oakley, Stephen P., Houweling, AC, Isidor, B, Jackson, N, Koopman, P, Korpioja, A, Kraatari-Tiri, M, Kuulavainen, L, Lee, K, Low, KJ, Rabaut, Laura, Lu, AC, McManus, ML, Oakley, SP, Oliver, J, Organ, NM, Overwater, E, Revencu, N, Trainer, AH, Trivedi, B, Turner, CLS, Bastianen, Jarl, Whittington, R, Zankl, A, Zentner, D, Van Laer, L, Verstraeten, A, Loeys, BL, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse

Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition

- Houston, Brendan J., Merriner, D. Jo, Stathatos, G. Gemma, Nguyen, Joseph H., O'Connor, Anne E., Lopes, Alexandra M., Conrad, Donald F., Baker, Mark, Dunleavy, Jessica E. M., O'Bryan, Moira K.

Hemochromatosis mutations, brain iron imaging, and dementia in the UK Biobank cohort

- Atkins, Janice L., Pilling, Luke C., Heales, Christine J., Savage, Sharon, Kuo, Chia-Ling, Kuchel, George A., Steffens, David C., Melzer, David

Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population

- Rogoza-Janiszewska, Emilia, Malinska, Karolina, Górski, Bohdan, Scott, Rodney J., Cybulski, Cezary, Kluzniak, Wojciech, Lener, Marcin, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Lubinski, Jan, Debniak, Tadeusz

The FBXW7-NOTCH interactome: A ubiquitin proteasomal system-induced crosstalk modulating oncogenic transformation in human tissues

- Kar, Rohan, Jha, Saurabh Kumar, Paudel, Keshav Raj, Hansbro, Philip M., Kumar Singh, Sandeep, Ruokolainen, Janne, Kesari, Kavinda Kumar, Dua, Kamal, Jha, Niraj Kumar, Ojha, Shreesh, Sharma, Ankur, Dholpuria, Sunny, Raju, Venkata Sita Rama, Prasher, Parteek, Chellappan, Dinesh Kumar, Gupta, Gaurav, Kumar Singh, Sachin

The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients

- Ngo, Thi Tuyet Dieu, Lea, Rodney A., Scott, Rodney, Griffiths, Lyn R., Maksemous, Neen, Eccles, David A., Smith, Robert A., Dunn, Paul J., Thao, Van Cao, Ha, Thi Minh Thi, Bùi, Chi Bao, Haupt, Larisa M.

Constitutional variants in POT1, TERF2IP, and ACDgenes in patients with melanoma in the Polish population

- Malińska, Karolina, Deptula, Jakub, Cybulski, Cezary, Kram, Andrzej, Boer, Magdalena, Kiedrowicz, Magdalena, Lubiński, Jan, Dębniak, Tadeusz, Rogoża-Janiszewska, Emilia, Górski, Bohdan, Scott, Rodney, Rudnicka, Helena, Kashyap, Aniruddh, Domagala, Pawel, Hybiak, Jolanta, Masojć, Bartlomiej

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships

- Dean, Benjamin, Chrisp, Georgina L., Quartararo, Maria, Maguire, Ann M., Hameed, Shihab, King, Bruce R., Munns, Craig F., Torpy, David J., Falhammar, Henrik, Rushworth, R. Louise

The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?

- Aitken, Robert John, Baker, Mark A.

A missense variant in PTPN22 is a risk factor for drug-induced liver injury

- Cirulli, Elizabeth T., Nicoletti, Paola, Abramson, Karen, Andrade, Raul J., Bjornsson, Einar S., Chalasani, Naga, Fontana, Robert J., Hallberg, Par, Li, Yi Ju, Lucena, M. Isabel, Long, Nanye, Molokhia, Mariam, Nelson, Matthew R., Odin, Joseph A., Pirmohamed, Munir, Rafnar, Thorunn, Serrano, Jose, Stefánsson, Kari, Stolz, Andrew, Martin, Jennifer H.

A subsidiary cell-localized glucose transporter promotes stomatal conductance and photosynthesis

- Wang, Hai, Yan, Shijuan, Li, Shengyan, Zhang, Chunyi, Ruan, Yong-Ling, Chen, Li-Qing, Lang, Zhihong, Xin, Hongjia, Huang, Wenjie, Zhang, Hao, Teng, Shouzhen, Yu, Ya-Chi, Fernie, Alisdair R., Lu, Xiaoduo, Li, Pengcheng

Oestrogen fuels the growth of endometrial hyperplastic lesions initiated by overactive Wnt/β-catenin signalling

- Goad, Jyoti, Ko, Yi-An, Kumar, Manish, Jamaluddin, M. Fairuz B., Tanwar, Pradeep S.

Proteomic characterization of the extracellular matrix of human uterine fibroids

- Jamaluddin, M. Fairuz B., Nahar, Pravin, Tanwar, Pradeep S.

RIP1 protects melanoma cells from apoptosis induced by BRAF/MEK inhibitors

- Lei, Fu Xi, Jin, Lei, Liu, Xiao Ying, Lai, Fritz, Yan, Xu Guang, Farrelly, Margaret, Guo, Su Tang, Zhao, Xin Han, Zhang, Xu Dong

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

- Eggers, Stefanie, Sadedin, Simon, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, van den Bergen, Jocelyn A., Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Robevska, Gorjana, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Ohnesorg, Thomas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Hewitt, Jacqueline, Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Lambeth, Luke, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Bouty, Aurore, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H., Knarston, Ingred M., Tan, Tiong Yang

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

- Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert

Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring

- McPherson, Nicole O., Fullston, Tod, Aitken, R. John, Lane, Michelle

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

- Spurdle, Amanda B., Couch, Fergus J., Rhiem, Kerstin, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Hahnen, Eric, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Van Asperen, Christi J, Eccles, Diana M, Tapper, William J, Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Engel, Christoph, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L, Baglietto, Laura, Meindl, Alfons, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Ditsch, Nina, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dörk, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Arnold, Norbert, Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collée, J. Margriet, Plendl, Hansjoerg, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Niederacher, Dieter, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, González-Neira, Anna, Arias, José Ignacio, Zamora, Pilar, Benítez, Javier, Mannermaa, Arto, Sutter, Christian, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Wang-Gohrke, Shan, Antoniou, Antonis C., Chenevix-Trench, Georgia, Goldgar, David E., Parsons, Michael T., Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, McGuffog, Lesley, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Barrowdale, Daniel, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Bolla, Manjeet K., Jensen, Uffe Birk, Rantala, Johanna, Borg, Åke, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Wang, Qin, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Healey, Sue, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Schmutzler, Rita Katharina, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Børg G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Wappenschmidt, Barbara, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A., Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise

Switching strategies to mitigate HIV mutation

- Hernandez-Vargas, Esteban Abelardo, Colaneri, Patrizio, Middleton, Richard H.

AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma

- Hu, W., Jin, L., Jiang, C. C., Long, G. V., Scolyer, R. A., Wu, Q., Zhang, X. D., Mei, Y., Wu, M.