Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

por Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Publicado 2014

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

por Petryszak, Robert, Keays, Maria, Tang, Y. Amy, Fonseca, Nuno A., Barrera, Elisabet, Burdett, Tony, Füllgrabe, Anja, Fuentes, Alfonso Muñoz-Pomer, Jupp, Simon, Koskinen, Satu, Mannion, Oliver, Huerta, Laura, Megy, Karine, Snow, Catherine, Williams, Eleanor, Barzine, Mitra, Hastings, Emma, Weisser, Hendrik, Wright, James, Jaiswal, Pankaj, Huber, Wolfgang, Choudhary, Jyoti, Parkinson, Helen E., Brazma, Alvis
Publicado 2016

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

por Taylor, Alysha S, Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L, Trofimenko, Evgeniya, Heuchan, Eleanor R, Barszcz, Paula, Ciosi, Marc, Morgan, Joanne, Hafford-Tear, Nathaniel J, Davidson, Alice E, Massey, Thomas H, Monckton, Darren G, Jones, Lesley, network, REGISTRY Investigators of the European Huntington’s disease, Xenarios, Ioannis, Dion, Vincent
Publicado 2022

Prostaglandin E2 Stimulates the Expansion of Regulatory Hematopoietic Stem and Progenitor Cells in Type 1 Diabetes

por Ben Nasr, Moufida, D’Addio, Francesca, Malvandi, Amir Mohammad, Faravelli, Silvia, Castillo-Leon, Eduardo, Usuelli, Vera, Rocchio, Francesca, Letizia, Teresa, El Essawy, Abdel Basset, Assi, Emma, Mameli, Chiara, Giani, Elisa, Macedoni, Maddalena, Maestroni, Anna, Dassano, Alice, Loretelli, Cristian, Paroni, Moira, Cannalire, Giuseppe, Biasucci, Giacomo, Sala, Marco, Biffi, Alessandra, Zuccotti, Gian Vincenzo, Fiorina, Paolo
Publicado 2018

Human neutralizing antibodies against SARS-CoV-2 require intact Fc effector functions for optimal therapeutic protection

por Winkler, Emma S., Gilchuk, Pavlo, Yu, Jinsheng, Bailey, Adam L., Chen, Rita E., Chong, Zhenlu, Zost, Seth J., Jang, Hyesun, Huang, Ying, Allen, James D., Case, James Brett, Sutton, Rachel E., Carnahan, Robert H., Darling, Tamarand L., Boon, Adrianus C.M., Mack, Matthias, Head, Richard D., Ross, Ted M., Crowe, James E., Diamond, Michael S.
Publicado 2021

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

por Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., van den Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek
Publicado 2019

Relevance of biomarkers across different neurodegenerative

por Ehrenberg, Alexander J., Khatun, Ayesha, Coomans, Emma, Betts, Matthew J., Capraro, Federica, Thijssen, Elisabeth H., Senkevich, Konstantin, Bharucha, Tehmina, Jafarpour, Mehrsa, Young, Peter N. E., Jagust, William, Carter, Stephen F., Lashley, Tammaryn, Grinberg, Lea T., Pereira, Joana B., Mattsson-Carlgren, Niklas, Ashton, Nicholas J., Hanrieder, Jörg, Zetterberg, Henrik, Schöll, Michael, Paterson, Ross W.
Publicado 2020

Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer’s disease

por McQuade, Amanda, Kang, You Jung, Hasselmann, Jonathan, Jairaman, Amit, Sotelo, Alexandra, Coburn, Morgan, Shabestari, Sepideh Kiani, Chadarevian, Jean Paul, Fote, Gianna, Tu, Christina H., Danhash, Emma, Silva, Jorge, Martinez, Eric, Cotman, Carl, Prieto, G. Aleph, Thompson, Leslie M., Steffan, Joan S., Smith, Ian, Davtyan, Hayk, Cahalan, Michael, Cho, Hansang, Blurton-Jones, Mathew
Publicado 2020

Perlecan Domain-V Enhances Neurogenic Brain Repair After Stroke in Mice

por Trout, Amanda L., Kahle, Michael P., Roberts, Jill M., Marcelo, Aileen, de Hoog, Leon, Boychuk, Jeffery A., Grupke, Stephen L., Berretta, Antonio, Gowing, Emma K., Boychuk, Carie R., Gorman, Amanda A., Edwards, Danielle N., Rutkai, Ibolya, Biose, Ifechukwude J., Ishibashi-Ueda, Hatsue, Ihara, Masafumi, Smith, Bret N., Clarkson, Andrew N., Bix, Gregory J.
Publicado 2020

ICAM1 initiates CTC cluster formation and trans-endothelial migration in lung metastasis of breast cancer

por Taftaf, Rokana, Liu, Xia, Singh, Salendra, Jia, Yuzhi, Dashzeveg, Nurmaa K., Hoffmann, Andrew D., El-Shennawy, Lamiaa, Ramos, Erika K., Adorno-Cruz, Valery, Schuster, Emma J., Scholten, David, Patel, Dhwani, Zhang, Youbin, Davis, Andrew A., Reduzzi, Carolina, Cao, Yue, D’Amico, Paolo, Shen, Yang, Cristofanilli, Massimo, Muller, William A., Varadan, Vinay, Liu, Huiping
Publicado 2021

Improving reporting of meta-ethnography: the eMERGe reporting guidance

por France, Emma F., Cunningham, Maggie, Ring, Nicola, Uny, Isabelle, Duncan, Edward A. S., Jepson, Ruth G., Maxwell, Margaret, Roberts, Rachel J., Turley, Ruth L., Booth, Andrew, Britten, Nicky, Flemming, Kate, Gallagher, Ian, Garside, Ruth, Hannes, Karin, Lewin, Simon, Noblit, George W., Pope, Catherine, Thomas, James, Vanstone, Meredith, Higginbottom, Gina M. A., Noyes, Jane
Publicado 2019

Replication-Competent Vesicular Stomatitis Virus Vaccine Vector Protects against SARS-CoV-2-Mediated Pathogenesis in Mice

por Case, James Brett, Rothlauf, Paul W., Chen, Rita E., Kafai, Natasha M., Fox, Julie M., Smith, Brittany K., Shrihari, Swathi, McCune, Broc T., Harvey, Ian B., Keeler, Shamus P., Bloyet, Louis-Marie, Zhao, Haiyan, Ma, Meisheng, Adams, Lucas J., Winkler, Emma S., Holtzman, Michael J., Fremont, Daved H., Whelan, Sean P.J., Diamond, Michael S.
Publicado 2020

Response to COVID-19 booster vaccinations in seronegative people with multiple sclerosis

por Tallantyre, Emma C, Scurr, Martin J, Vickaryous, Nicola, Richards, Aidan, Anderson, Valerie, Baker, David, Chance, Randy, Evangelou, Nikos, George, Katila, Giovannoni, Gavin, Harding, Katharine E, Hibbert, Aimee, Ingram, Gillian, Jolles, Stephen, Jones, Meleri, Kang, Angray S, Loveless, Samantha, Moat, Stuart J, Robertson, Neil P, Rios, Francesca, Schmierer, Klaus, Willis, Mark, Godkin, Andrew, Dobson, Ruth
Publicado 2022

Epidemiological evaluation of sewage surveillance as a tool to detect the presence of COVID-19 cases in a low case load setting

por Black, Jim, Aung, Phyo, Nolan, Monica, Roney, Emma, Poon, Rachael, Hennessy, Daneeta, Crosbie, Nicholas D., Deere, Dan, Jex, Aaron R., John, Nijoy, Baker, Louise, Scales, Peter J., Usher, Shane P., McCarthy, David T., Schang, Christelle, Schmidt, Jonathan, Myers, Steven, Begue, Natacha, Kaucner, Christine, Thorley, Bruce, Druce, Julian, Monis, Paul, Lau, Melody, Sarkis, Suzie
Publicado 2021

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience

por Urdinez, Luciano, Erra, Lorenzo, Palma, Alejandro M., Mercogliano, María F., Fernandez, Julieta Belén, Prieto, Emma, Goris, Verónica, Bernasconi, Andrea, Sanz, Marianela, Villa, Mariana, Bouso, Carolina, Caputi, Lucia, Quesada, Belen, Solis, Daniel, Aguirre Bruzzo, Anabel, Katsicas, Maria Martha, Galluzzo, Laura, Weyersberg, Christian, Bocian, Marcela, Bujan, Maria Marta, Oleastro, Matías, Almejun, María B., Danielian, Silvia
Publicado 2022

The impact of COVID-19 on breastfeeding rates: An international cross-sectional study

por Ganho-Ávila, Ana, Guiomar, Raquel, Sobral, Mónica, Pacheco, Francisca, Caparros-Gonzalez, Rafael A., Diaz-Louzao, Carla, Motrico, Emma, Domínguez-Salas, Sara, Mesquita, Ana, Costa, Raquel, Vousoura, Eleni, Hadjigeorgiou, Eleni, Bina, Rena, Buhagiar, Rachel, Mateus, Vera, Contreras-García, Yolanda, Wilson, Claire A., Ajaz, Erilda, Hancheva, Camellia, Dikmen-Yildiz, Pelin, de la Torre-Luque, Alejandro
Publicado 2023

Lack of Strategic Funding and Long-Term Job Security Threaten to Have Profound Effects on Cardiovascular Researcher Retention in Australia

por Climie, Rachel E., Wu, Jason H.Y., Calkin, Anna C., Chapman, Niamh, Inglis, Sally C., Mirabito Colafella, Katrina M., Picone, Dean S., Tan, Joanne T.M., Thomas, Emma, Viola, Helena M., Wise, Steven G., Murphy, Andrew J., Nelson, Mark R., Nicholls, Stephen J., Hool, Livia C., Doyle, Kerry, Figtree, Gemma A., Marques, Francine Z.
Publicado 2020

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

por Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Publicado 2017

Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study

por Gormley, Mark, Yarmolinsky, James, Dudding, Tom, Burrows, Kimberley, Martin, Richard M., Thomas, Steven, Tyrrell, Jessica, Brennan, Paul, Pring, Miranda, Boccia, Stefania, Olshan, Andrew F., Diergaarde, Brenda, Hung, Rayjean J., Liu, Geoffrey, Legge, Danny, Tajara, Eloiza H., Severino, Patricia, Lacko, Martin, Ness, Andrew R., Davey Smith, George, Vincent, Emma E., Richmond, Rebecca C.
Publicado 2021

Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europe...

por Uglebjerg, Nicoline, Ahmadizar, Fariba, Aly, Dina M., Cañadas-Garre, Marisa, Hill, Claire, Naber, Annemieke, Oddsson, Asmundur, Singh, Sunny S., Smyth, Laura, Trégouët, David-Alexandre, Chaker, Layal, Ghanbari, Mohsen, Steinthorsdottir, Valgerdur, Ahlqvist, Emma, Hadjadj, Samy, Van Hoek, Mandy, Kavousi, Maryam, McKnight, Amy Jayne, Sijbrands, Eric J., Stefansson, Kari, Simons, Matias, Rossing, Peter, Ahluwalia, Tarunveer S.
Publicado 2023