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

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

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

par 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
Publié 2011

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

par 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
Publié 2023

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

par 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
Publié 2016

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

par 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.
Publié 2023

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

par 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
Publié 2019

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

par 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
Publié 2021

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

par 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.
Publié 2017

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

par 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
Publié 2018

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

par 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.
Publié 2011

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

par 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.
Publié 2017

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

par 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.
Publié 2016

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

par 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.
Publié 2016

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

par 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
Publié 2021

Delineation of the movement disorders associated with FOXG1 mutations

par 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.
Publié 2016

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

par 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
Publié 2017

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

par 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
Publié 2020

Diagnostic value of exome and whole genome sequencing in craniosynostosis

par 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
Publié 2017

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

par 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.
Publié 2018

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

par 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
Publié 2022