Valorization of Sour Milk to Form Bioplastics: Friend or Foe?

por Jefferson, Mark T., Rutter, Connor, Fraine, Katherine, Borges, Gabriel V. B., de Souza Santos, Gabriela M., Schoene, Frederico A. P., Hurst, Glenn A.
Publicado 2020

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

por Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M
Publicado 2011

Low nephron endowment increases susceptibility to renal stress and chronic kidney disease

por Good, Pamela I., Li, Ling, Hurst, Holly A., Serrano Herrera, Ileana, Xu, Katherine, Rao, Meenakshi, Bateman, David A., Al-Awqati, Qais, D’Agati, Vivette D., Costantini, Frank, Lin, Fangming
Publicado 2023

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

por Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Publicado 2016

Neurological diagnoses in hospitalized COVID‐19 patients during the B.1.1.529 surge

por Kim, Carla Y., Sardar, Zomer, Ayele, Biniyam A., Fleck‐Derderian, Shannon, Barrett, Catherine E., Sun, Yifei, Clague, Madison, Hurst, Holly A., Boruah, Abhilasha, Zucker, Jason, Maddox, Ryan, Sejvar, James, Thakur, Kiran T.
Publicado 2023

Industry-Informed Workshops to Develop Graduate Skill Sets in the Circular Economy Using Systems Thinking

por Summerton, Louise, Clark, James H., Hurst, Glenn A., Ball, Peter D., Rylott, Elizabeth L., Carslaw, Nicola, Creasey, Julia, Murray, Jane, Whitford, Jeffrey, Dobson, Brian, Sneddon, Helen F., Ross, Joe, Metcalf, Pete, McElroy, C. Robert
Publicado 2019

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

por Forny, Patrick, Footitt, Emma, Davison, James E., Lam, Amanda, Woodward, Cathy E., Batzios, Spyros, Bhate, Sanjay, Chakrapani, Anupam, Cleary, Maureen, Gissen, Paul, Grunewald, Stephanie, Hurst, Jane A., Scott, Richard, Heales, Simon, Jacques, Thomas S., Cullup, Thomas, Rahman, Shamima
Publicado 2021

TNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling

por Hurst, Liam A., Dunmore, Benjamin J., Long, Lu, Crosby, Alexi, Al-Lamki, Rafia, Deighton, John, Southwood, Mark, Yang, Xudong, Nikolic, Marko Z., Herrera, Blanca, Inman, Gareth J., Bradley, John R., Rana, Amer A., Upton, Paul D., Morrell, Nicholas W.
Publicado 2017

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

por Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J
Publicado 2018

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

por Raffan, Eleanor, Hurst, Liam A., Turki, Saeed Al, Carpenter, Gillian, Scott, Carol, Daly, Allan, Coffey, Alison, Bhaskar, Sanjeev, Howard, Eleanor, Khan, Naz, Kingston, Helen, Palotie, Aarno, Savage, David B., O'Driscoll, Mark, Smith, Claire, O'Rahilly, Stephen, Barroso, Inês, Semple, Robert K.
Publicado 2011

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

por Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.
Publicado 2017

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

por Fokstuen, S., Makrythanasis, P., Hammar, E., Guipponi, M., Ranza, E., Varvagiannis, K., Santoni, F. A., Albarca-Aguilera, M., Poleggi, M. E., Couchepin, F., Brockmann, C., Mauron, A., Hurst, S. A., Moret, C., Gehrig, C., Vannier, A., Bevillard, J., Araud, T., Gimelli, S., Stathaki, E., Paoloni-Giacobino, A., Bottani, A., Sloan-Béna, F., Sizonenko, L. D’Amato, Mostafavi, M., Hamamy, H., Nouspikel, T., Blouin, J. L., Antonarakis, S. E.
Publicado 2016

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

por Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Publicado 2016

Vitamin D insufficiency in COVID-19 and influenza A, and critical illness survivors: a cross-sectional study

por Hurst, Emma A, Mellanby, Richard J, Handel, Ian, Griffith, David M, Rossi, Adriano G, Walsh, Timothy S, Shankar-Hari, Manu, Dunning, Jake, Homer, Natalie Z, Denham, Scott G, Devine, Kerri, Holloway, Paul A, Moore, Shona C, Thwaites, Ryan S, Samanta, Romit J, Summers, Charlotte, Hardwick, Hayley E, Oosthuyzen, Wilna, Turtle, Lance, Semple, Malcolm G, Openshaw, Peter J M, Baillie, J Kenneth, Russell, Clark D
Publicado 2021

Delineation of the movement disorders associated with FOXG1 mutations

por Papandreou, Apostolos, Schneider, Ruth B., Augustine, Erika F., Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M., Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C., Basheer, S. Nigel, Webster, Richard I., Mohammad, Shekeeb S., Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H., Hurst, Jane A., Perez-Duenas, Belen, Paciorkowski, Alexander R., Kurian, Manju A.
Publicado 2016

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

por Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
Publicado 2017

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

por Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J
Publicado 2020

Diagnostic value of exome and whole genome sequencing in craniosynostosis

por Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Publicado 2017

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

por Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Publicado 2018

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

por Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, DeVile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay M, Hurst, Jane A
Publicado 2022