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 novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

- Hooper, Amanda J., Tran, Huy A., Formby, Mark R., Burnett, John R.

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

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

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.

Characteristics of a widespread community cluster of H275Y Oseltamivir-Resistant A (H1N1)pdm09 influenza in Australia

- Hurt, A. C., Hardie, K., Wark, P., Caldwell, N., Givney, R. C., Xue, L., Maurer-Stroh, S., Dwyer, D. E., Wang, B., Smith, D. W., Levy, A., Booy, R., Wilson, N. J., Dixit, R., Merritt, T., Kelso, A., Dalton, C. B., Durrheim, D. N., Barr, I. G., Deng, Y. M., Osbourn, M., Leang, S. K., Lee, R. T. C., Iannello, P., Gehrig, N., Shaw, R.

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

Directional sensing of a phorbol ester gradient requires CD44 and is regulated by CD44 phosphorylation

- Tzircotis, G., Thorne, R. F., Isacke, C. M.

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

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

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

Hereditary haemochromatosis: to screen or not to screen? (editorial)

- Olynyk, J. K., Trinder, D., Milward, Adrienne Elizabeth

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.

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

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

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

Phenotype-genotype correlations in a series of Wolfram syndrome families

- Smith, Casey J. A., Crock, Patricia A., King, Bruce R., Meldrum, Cliff J., Scott, Rodney J.

Planning the Human Variome Project: the Spain report

- Kaput, Jim, Cotton, Richard G. H., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Scott, Rodney J., Hardman, Lauren, Watson, Michael, Aqeel, Aida I. Al, Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D.

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

Probing glycine receptor stoichiometry in superficial dorsal horn neurones using the spasmodic mouse

- Graham, B. A., Tadros, M. A., Schofield, P. R., Callister, R. J.

Proteomic characterization of the extracellular matrix of human uterine fibroids

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