Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

por Preston, Rebecca, Stuart, Helen M., Lennon, Rachel
Publicado 2017

Predicting congenital renal tract malformation genes using machine learning

por Kabir, Mitra, Stuart, Helen M., Lopes, Filipa M., Fotiou, Elisavet, Keavney, Bernard, Doig, Andrew J., Woolf, Adrian S., Hentges, Kathryn E.
Publicado 2023

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

por Roberts, Neil A., Woolf, Adrian S., Stuart, Helen M., Thuret, Raphaël, McKenzie, Edward A., Newman, William G., Hilton, Emma N.
Publicado 2014

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

por Harkness, J. Robert, Beaman, Glenda M., Teik, Keng W., Sidhu, Sangeet, Sayer, John A., Cordell, Heather J., Thomas, Huw B., Wood, Katherine, Stuart, Helen M., Woolf, Adrian S., Newman, William G.
Publicado 2020

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

por Beaman, Glenda M., Galatà, Gabriella, Teik, Keng W., Urquhart, Jill E., Aishah, Ali, O'Sullivan, James, Bhaskar, Sanjeev S., Wood, Katherine A., Thomas, Huw B., O'Keefe, Raymond T., Woolf, Adrian S., Stuart, Helen M., Newman, William G.
Publicado 2019

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

por Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Publicado 2015

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

por Roberts, Neil A., Hilton, Emma N., Lopes, Filipa M., Singh, Subir, Randles, Michael J., Gardiner, Natalie J., Chopra, Karl, Coletta, Riccardo, Bajwa, Zunera, Hall, Robert J., Yue, Wyatt W., Schaefer, Franz, Weber, Stefanie, Henriksson, Roger, Stuart, Helen M., Hedman, Håkan, Newman, William G., Woolf, Adrian S.
Publicado 2019

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

por Jayadev, Ranjay, Morais, Mychel R. P. T., Ellingford, Jamie M., Srinivasan, Sandhya, Naylor, Richard W., Lawless, Craig, Li, Anna S., Ingham, Jack F., Hastie, Eric, Chi, Qiuyi, Fresquet, Maryline, Koudis, Nikki-Maria, Thomas, Huw B., O’Keefe, Raymond T., Williams, Emily, Adamson, Antony, Stuart, Helen M., Banka, Siddharth, Smedley, Damian, Sherwood, David R., Lennon, Rachel
Publicado 2022

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

por Beaman, Glenda M., Lopes, Filipa M., Hofmann, Aybike, Roesch, Wolfgang, Promm, Martin, Bijlsma, Emilia K., Patel, Chirag, Akinci, Aykut, Burgu, Berk, Knijnenburg, Jeroen, Ho, Gladys, Aufschlaeger, Christina, Dathe, Sylvia, Voelckel, Marie Antoinette, Cohen, Monika, Yue, Wyatt W., Stuart, Helen M., Mckenzie, Edward A., Elvin, Mark, Roberts, Neil A., Woolf, Adrian S., Newman, William G.
Publicado 2022

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

por Molina-Ramírez, Leslie Patricia, Kyle, Claire, Ellingford, Jamie M, Wright, Ronnie, Taylor, Algy, Bhaskar, Sanjeev S, Campbell, Christopher, Jackson, Harriet, Fairclough, Adele, Rousseau, Abigail, Burghel, George J, Dutton, Laura, Banka, Siddharth, Briggs, Tracy A, Clayton-Smith, Jill, Douzgou, Sofia, Jones, Elizabeth A, Kingston, Helen M, Kerr, Bronwyn, Ealing, John, Somarathi, Suresh, Chandler, Kate E, Stuart, Helen M, Burkitt-Wright, Emma MM, Newman, William G, Bruce, Iain A, Black, Graeme C, Gokhale, David
Publicado 2022

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

por Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Publicado 2017

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

por Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Öznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F.M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna, Szczepańska, Maria, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F.J., van Rooij, Iris A.L.M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkötter, Markus, Hoppe, Bernd, Thiele, Holger, Altmüller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin, Hilger, Alina C.
Publicado 2019