Inherited Renal Tubulopathies—Challenges and Controversies

por Iancu, Daniela, Ashton, Emma
Publicado 2020

Potential and pitfalls in the genetic diagnosis of kidney diseases

por Kesselheim, Anne, Ashton, Emma, Bockenhauer, Detlef
Publicado 2017

Co-creating local socioeconomic pathways for achieving the sustainable development goals

por Szetey, Katrina, Moallemi, Enayat A., Ashton, Emma, Butcher, Martin, Sprunt, Beth, Bryan, Brett A.
Publicado 2021

Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

por O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria
Publicado 2015

Clinical and diagnostic features of Bartter and Gitelman syndromes

por Walsh, Patrick R, Tse, Yincent, Ashton, Emma, Iancu, Daniela, Jenkins, Lucy, Bienias, Marc, Kleta, Robert, van’t Hoff, William, Bockenhauer, Detlef
Publicado 2018

Long-term outcome in inherited nephrogenic diabetes insipidus

por Sharma, Sonia, Ashton, Emma, Iancu, Daniela, Arthus, Marie-Francoise, Hayes, Wesley, van’t Hoff, William, Kleta, Robert, Bichet, Daniel G, Bockenhauer, Detlef
Publicado 2018

Long-term outcome in inherited nephrogenic diabetes insipidus

por Sharma, Sonia, Ashton, Emma, Iancu, Daniela, Arthus, Marie-Francoise, Hayes, Wesley, van’t Hoff, William, Kleta, Robert, Bichet, Daniel G, Bockenhauer, Detlef
Publicado 2020

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients

por Wan, Elizabeth R., Iancu, Daniela, Ashton, Emma, Siew, Keith, Mohidin, Barian, Sung, Chih-Chien, Nagano, China, Bockenhauer, Detlef, Lin, Shih-Hua, Nozu, Kandai, Walsh, Stephen B.
Publicado 2022

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

por Kari, Jameela A., Montini, Giovanni, Bockenhauer, Detlef, Brennan, Eileen, Rees, Lesley, Trompeter, Richard S., Tullus, Kjell, van’t Hoff, William, Waters, Aoife, Ashton, Emma, Lench, Nicholas, Sebire, Neil J., Marks, Stephen D.
Publicado 2014

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

por Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor
Publicado 2020

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism

por Tahoun, Mona, Chandler, Jennifer C, Ashton, Emma, Haston, Scott, Hannan, Athia, Kim, Ji Soo, D’Arco, Felipe, Bockenhauer, D, Anderson, G, Lin, Meei-Hua, Marzouk, Salah, Saied, Marwa H, Miner, Jeffrey H, Dattani, Mehul T, Waters, Aoife M
Publicado 2019

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

por Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Publicado 2008

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

por Omoyinmi, Ebun, Standing, Ariane, Keylock, Annette, Price-Kuehne, Fiona, Melo Gomes, Sonia, Rowczenio, Dorota, Nanthapisal, Sira, Cullup, Thomas, Nyanhete, Rodney, Ashton, Emma, Murphy, Claire, Clarke, Megan, Ahlfors, Helena, Jenkins, Lucy, Gilmour, Kimberly, Eleftheriou, Despina, Lachmann, Helen J., Hawkins, Philip N., Klein, Nigel, Brogan, Paul A.
Publicado 2017

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-conce...

por Kinali, Maria, Arechavala-Gomeza, Virginia, Feng, Lucy, Cirak, Sebahattin, Hunt, David, Adkin, Carl, Guglieri, Michela, Ashton, Emma, Abbs, Stephen, Nihoyannopoulos, Petros, Garralda, Maria Elena, Rutherford, Mary, Mcculley, Caroline, Popplewell, Linda, Graham, Ian R, Dickson, George, Wood, Matthew JA, Wells, Dominic J, Wilton, Steve D, Kole, Ryszard, Straub, Volker, Bushby, Kate, Sewry, Caroline, Morgan, Jennifer E, Muntoni, Francesco
Publicado 2009

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

por Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M
Publicado 2021