OC11.07: The diagnostic yield provided by prenatal‐exome sequencing in fetal abnormality
Stocker, L. J., Burca, A., Brown, G., Parasuraman, R.
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
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EP11.19: Prenatal ultrasound features of COQ9 deficiency
Stocker, L. J., Hearson, L., Burca, A., Parasuraman, R.
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, Wei, Pagnamenta, Alistair T, Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A, Fratter, Carl, Turro, Ernest, Caulfield, Mark J, Taylor, Jenny C, Rahman, Shamima, Chinnery, Patrick F
Published in Nature communications (08.04.2020)
Published in Nature communications (08.04.2020)
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Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen, Katri, Puvirajasinghe, Clinda, Hudgell, Kirsty, Sidhu, Meneka K., Martins Custodio, Helena, Jones, Wendy D., Balestrini, Simona, Sisodiya, Sanjay M., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman‐Pretty, F., Boissiere, J. M., Boustred, C. R., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió‐Tarí, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady‐Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Patch, C., Perez‐Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo‐Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K.
Published in Epilepsia open (01.12.2021)
Published in Epilepsia open (01.12.2021)
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Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
Pleguezuelos-Manzano, Cayetano, Puschhof, Jens, Rosendahl Huber, Axel, van Hoeck, Arne, Wood, Henry M, Nomburg, Jason, Gurjao, Carino, Manders, Freek, Dalmasso, Guillaume, Stege, Paul B, Paganelli, Fernanda L, Geurts, Maarten H, Beumer, Joep, Mizutani, Tomohiro, Miao, Yi, van der Linden, Reinier, van der Elst, Stefan, Garcia, K Christopher, Top, Janetta, Willems, Rob J L, Giannakis, Marios, Bonnet, Richard, Quirke, Phil, Meyerson, Matthew, Cuppen, Edwin, van Boxtel, Ruben, Clevers, Hans
Published in Nature (London) (01.04.2020)
Published in Nature (London) (01.04.2020)
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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Vig, Anjali, Poulter, James A, Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T, Wheway, Gabrielle, Arno, Gavin, Khan, Kamron N, McKibbin, Martin, Toomes, Carmel, Ali, Manir, Di Scipio, Matteo, Li, Shuning, Ellingford, Jamie, Black, Graeme, Webster, Andrew, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Vincent, Ajoy, Cheetham, Michael E, Inglehearn, Chris F, Roberts, Anthony, Heon, Elise
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Parry, David A, Martin, Carol-Anne, Greene, Philip, Marsh, Joseph A, Blyth, Moira, Cox, Helen, Donnelly, Deirdre, Greenhalgh, Lynn, Greville-Heygate, Stephanie, Harrison, Victoria, Lachlan, Katherine, McKenna, Caoimhe, Quigley, Alan J, Rea, Gillian, Robertson, Lisa, Suri, Mohnish, Jackson, Andrew P
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
Bacq, Alexandre, Roussel, Delphine, Bonduelle, Thomas, Zagaglia, Sara, Maletic, Marina, Ribierre, Théo, Adle-Biassette, Homa, Marchal, Cécile, Jennesson, Mélanie, An, Isabelle, Picard, Fabienne, Navarro, Vincent, Sisodiya, Sanjay M, Baulac, Stéphanie
Published in Annals of neurology (01.01.2022)
Published in Annals of neurology (01.01.2022)
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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, Van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William D, Wierenga, Klaas J, Klee, Eric W, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel
Published in Brain (London, England : 1878) (17.06.2024)
Published in Brain (London, England : 1878) (17.06.2024)
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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
Gibson, Joel T, Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Gale, Daniel P, Cerkauskaite, Agne, Savige, Judy
Published in Scientific reports (17.02.2022)
Published in Scientific reports (17.02.2022)
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Jamra, Rami Abu, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Hanna, Michael, Koenig, Michel, Vandrovcova, Jana, Houlden, Henry, Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Daugherty, L.C., Devereau, A., Foulger, R.E., Fowler, T., Furió-Tarí, P., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Stevens, H.E., Stuckey, A., Sultana, R., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
Tolchin, Dara, Yeager, Jessica P., Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A., Haseeb, Abdul, Santen, G.W.E., Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Lancaster, Emily, Krantz, Ian D., Krock, Bryan L., DeChene, Elizabeth T., Melistaccio, Giada, Suri, Mohnish, Foulds, Nicola, Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Need, A.C., Odhams, C.A., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Begtrup, Amber, Henderson, Lindsay B., Forster, Cara, Reed, Patrick, McDonald, Marie T., McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogné, Benjamin, Isidor, Bertrand, Stoeva, Radka, Le Caignec, Cédric
Published in American journal of human genetics (04.06.2020)
Published in American journal of human genetics (04.06.2020)
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Lam, Tanya, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Bartels, Claudius, Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Tucci, A., Watters, S.A., Welland, M.J., Williams, E., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, Mason, J, McDonagh, E M, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Smith, S C, Sosinsky, A, Spooner, W, Stevens, H E, Stuckey, A, Sultana, R, Thomas, E R A, Thompson, S R, Tregidgo, C, Tucci, A, Walsh, E, Watters, S A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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New variants and in silico analyses in GRK1 associated Oguchi disease
Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Zeitz, Christina, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F.
Published in Human mutation (01.02.2021)
Published in Human mutation (01.02.2021)
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Neuronal intranuclear inclusion disease is genetically heterogeneous
Chen, Zhongbo, Yan Yau, Wai, Jaunmuktane, Zane, Tucci, Arianna, Sivakumar, Prasanth, Gagliano Taliun, Sarah A., Turner, Chris, Efthymiou, Stephanie, Ibáñez, Kristina, Sullivan, Roisin, Bibi, Farah, Athanasiou‐Fragkouli, Alkyoni, Bourinaris, Thomas, Zhang, David, Revesz, Tamas, Lashley, Tammaryn, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Gelpi, Ellen, Kovacs, Gabor G., Halliday, Glenda, Rowe, Dominic B., Blair, Ian, Tienari, Pentti J., Suomalainen, Anu, Fox, Nick C., Wood, Nicholas W., Lees, Andrew J., Haltia, Matti J., Hardy, John, Ryten, Mina, Vandrovcova, Jana, Houlden, Henry
Published in Annals of clinical and translational neurology (01.09.2020)
Published in Annals of clinical and translational neurology (01.09.2020)
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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R, Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W L, Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J, Shenthar, Jayaprakash, Dhandapany, Perundurai S, Semsarian, Christopher, Weintraub, Robert G, Bagnall, Richard D, Ingles, Jodie, Melé, Marta, Maass, Philipp G, Ellis, James, Scherer, Stephen W, Mital, Seema
Published in Npj genomic medicine (14.03.2022)
Published in Npj genomic medicine (14.03.2022)
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