The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

por Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
Publicado 2019

Meta‐analysis of the demographic and prognostic significance of gastrointestinal symptoms in COVID‐19 patients

por Zaman, Shafquat, Hajibandeh, Shahin, Hajibandeh, Shahab, Mohamedahmed, Ali Yasen Y, El‐Asrag, Mohammed E, Quraishi, Nabil, Iqbal, Tariq H, Beggs, Andrew D
Publicado 2022

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

por El-Asrag, Mohammed E., Corton, Marta, McKibbin, Martin, Avila-Fernandez, Almudena, Mohamed, Moin D., Blanco-Kelly, Fiona, Toomes, Carmel, Inglehearn, Chris F., Ayuso, Carmen, Ali, Manir
Publicado 2022

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

por Yahya, Samar, Watson, Christopher M., Carr, Ian, McKibbin, Martin, Crinnion, Laura A., Taylor, Morag, Bonin, Hope, Fletcher, Tracy, El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.
Publicado 2023

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

por Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., El‐Asrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2020

The analysis of gut microbiota in patients with bile acid diarrhoea treated with colesevelam

por Kumar, Aditi, Quraishi, Mohammed Nabil, Al-Hassi, Hafid O., El-Asrag, Mohammed E., Segal, Jonathan P., Jain, Manushri, Steed, Helen, Butterworth, Jeffrey, Farmer, Adam, Mclaughlin, John, Beggs, Andrew, Brookes, Matthew J.
Publicado 2023

Patient Derived Organoids Confirm That PI3K/AKT Signalling Is an Escape Pathway for Radioresistance and a Target for Therapy in Rectal Cancer

por Wanigasooriya, Kasun, Barros-Silva, Joao D., Tee, Louise, El-asrag, Mohammed E., Stodolna, Agata, Pickles, Oliver J., Stockton, Joanne, Bryer, Claire, Hoare, Rachel, Whalley, Celina M., Tyler, Robert, Sillo, Toritseju, Yau, Christopher, Ismail, Tariq, Beggs, Andrew D.
Publicado 2022

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

por Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne
Publicado 2018

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

por Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Publicado 2015

A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia

por Mahmood, Tariq, El-Asrag, Mohammed E, Poulter, James A, Cardno, Alastair G, Tomlinson, Anneka, Ahmed, Sophia, Al-Amri, Ahmed, Nazari, Jamshid, Neill, Joanna, Chamali, Rifka S, Kiwan, Nancy, Ghuloum, Suhaila, Alhaj, Hamid A, Randerson Moor, Juliette, Khan, Shabana, Al-Amin, Hassen, Johnson, Colin A, Woodruff, Peter, Wilkinson, Iain D, Ali, Manir, Clapcote, Steven J, Inglehearn, Chris F
Publicado 2020

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

por Fletcher, Sally C., Hall, Charlotte, Kennedy, Tristan J., Pajusalu, Sander, Wojcik, Monica H., Boora, Uncaar, Li, Chan, Oja, Kaisa Teele, Hendrix, Eline, Westrip, Christian A.E., Andrijes, Regina, Piasecka, Sonia K., Singh, Mansi, El-Asrag, Mohammed E., Ptasinska, Anetta, Tillmann, Vallo, Higgs, Martin R., Carere, Deanna A., Beggs, Andrew D., Pappas, John, Rabin, Rachel, Smerdon, Stephen J., Stewart, Grant S., Õunap, Katrin, Coleman, Mathew L.
Publicado 2023

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

por Al-Amri, Ahmed H., Armstrong, Paul, Amici, Mascia, Ligneul, Clemence, Rouse, James, El-Asrag, Mohammed E., Pantiru, Andreea, Vancollie, Valerie E., Ng, Hannah W.Y., Ogbeta, Jennifer A., Goodchild, Kirstie, Ellegood, Jacob, Lelliott, Christopher J., Mullins, Jonathan G.L., Bretman, Amanda, Al-Ali, Ruslan, Beetz, Christian, Al-Gazali, Lihadh, Al Shamsi, Aisha, Lerch, Jason P., Mellor, Jack R., Al Sayegh, Abeer, Ali, Manir, Inglehearn, Chris F., Clapcote, Steven J.
Publicado 2022