New missense variants in RELT causing hypomineralised amelogenesis imperfecta von 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.

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Meta‐analysis of the demographic and prognostic significance of gastrointestinal symptoms in COVID‐19 patients von Zaman, Shafquat, Hajibandeh, Shahin, Hajibandeh, Shahab, Mohamedahmed, Ali Yasen Y, El‐Asrag, Mohammed E, Quraishi, Nabil, Iqbal, Tariq H, Beggs, Andrew D

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

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Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans von Fletcher, Sally C, Hall, Charlotte, Kennedy, Tristan J, Pajusalu, Sander, Wojcik, Monica H, Boora, Uncaar, Li, Chan, Oja, Kaisa Teele, Hendrix, Eline, Westrip, Christian Ae, 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

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

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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement von El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Hardcastle, Alison, Michaelides, Michel, Cheetham, Michael, Arno, Gavin, Thomas, Niclas, Bhattacharya, Shomi, Moore, Tony, Nemeth, Andrea, Downes, Susan, Lise, Stefano, Lord, Emma, Johnson, Colin A., Carr, Ian M., Leroy, Bart P., De Baere, Elfride, Inglehearn, Chris F., Webster, Andrew R., Toomes, Carmel, Ali, Manir

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Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family von Al-Amri, Ahmed, Saegh, Abeer Al, Al-Mamari, Watfa, El-Asrag, Mohammed E., Ivorra, Jose L., Cardno, Alastair G., Inglehearn, Chris F., Clapcote, Steven J., Ali, Manir

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Faecal Microbiota Transplantation [FMT] in the Treatment of Chronic Refractory Pouchitis: A Systematic Review and Meta-analysis von Zaman, Shafquat, Akingboye, Akinfemi, Mohamedahmed, Ali Yasen Y, Peterknecht, Elizabeth, Bhattacharya, Pratik, El-Asrag, Mohammed E, Iqbal, Tariq H, Quraishi, Mohammed Nabil, Beggs, Andrew D

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

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

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene von Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, 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, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, 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.

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The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5 von Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.

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Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy von Khan, Kamron N, El-Asrag, Mohammed E, Ku, Cristy A, Holder, Graham E, McKibbin, Martin, Arno, Gavin, Poulter, James A, Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P, Raymond, F Lucy, Toomes, Carmel, Inglehearn, Chris F, Pennesi, Mark E, Moore, Anthony T, Michaelides, Michel, Webster, Andrew R, Ali, Manir

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

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

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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility von Bedoni, Nicola, Haer-Wigman, Lonneke, Vaclavik, Veronika, Tran, Viet H, Farinelli, Pietro, Balzano, Sara, Royer-Bertrand, Beryl, El-Asrag, Mohammed E, Bonny, Olivier, Ikonomidis, Christos, Litzistorf, Yan, Nikopoulos, Konstantinos, Yioti, Georgia G, Stefaniotou, Maria I, McKibbin, Martin, Booth, Adam P, Ellingford, Jamie M, Black, Graeme C, Toomes, Carmel, Inglehearn, Chris F, Hoyng, Carel B, Bax, Nathalie, Klaver, Caroline C W, Thiadens, Alberta A, Murisier, Fabien, Schorderet, Daniel F, Ali, Manir, Cremers, Frans P M, Andréasson, Sten, Munier, Francis L, Rivolta, Carlo

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LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss von Al-Amri, Ahmed H., Al Saegh, Abeer, Al-Mamari, Watfa, El-Asrag, Mohammed E., Al-Kindi, Mohammed N., Al Khabouri, Mazin, Al Wardy, Nadia, Al Lamki, Khalsa, Gabr, Ahlam, Idris, Ahmed, Inglehearn, Chris F., Clapcote, Steven J., Ali, Manir

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Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype von Sergouniotis, Panagiotis I, Dr, Robson, Anthony G, PhD, El-Asrag, Mohammed E, MSc, Ali, Manir, PhD, Holder, Graham E, PhD, Black, Graeme C, PhD, Webster, Andrew R, MD, Plagnol, Vincent, PhD

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

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Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene von Sergouniotis, Panagiotis I, McKibbin, Martin, Robson, Anthony G, Bolz, Hanno J, De Baere, Elfride, Müller, Philipp L, Heller, Raoul, El-Asrag, Mohammed E, Van Schil, Kristof, Plagnol, Vincent, Toomes, Carmel, Ali, Manir, Holder, Graham E, Charbel Issa, Peter, Leroy, Bart P, Inglehearn, Chris F, Webster, Andrew R

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