Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis von Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea

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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration von 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

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project von Wheway, Gabrielle, Mitchison, Hannah M

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome von 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

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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia von 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.

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von 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

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Assessing the digenic model in rare disorders using population sequencing data von Moreno-Ruiz, Nerea, Lao, Oscar, Aróstegui, Juan Ignacio, Laayouni, Hafid, Casals, Ferran

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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis von Owen, Nicholas, Toms, Maria, Young, Rodrigo M., Eintracht, Jonathan, Sarkar, Hajrah, Brooks, Brian P., Moosajee, Mariya, Ambrose, J.C., 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., Holman, J.E., Hubbard, T.J.P., Jackson, R., 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., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

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New variants and in silico analyses in GRK1 associated Oguchi disease von 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.

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Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans von 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.

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Neuronal intranuclear inclusion disease is genetically heterogeneous von 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

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Late diagnoses of Dravet syndrome: How many individuals are we missing? von 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.

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Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2 von Hong, Ying, Nanthapisal, Sira, Omoyinmi, Ebun, Olbrich, Peter, Neth, Olaf, Speckmann, Carsten, Lucena, Jose Manuel, Gilmour, Kimberly, Worth, Austen, Klein, Nigel, Eleftheriou, Despina, Brogan, Paul

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The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources von DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E, Bocchini, C, Bruford, EA, Coffey, AJ, Collins, H, Cunningham, F, Daugherty, LC, Einhorn, Y, Firth, HV, Fitzpatrick, DR, Foulger, RE, Goldstein, J, Hamosh, A, Hurles, MR, Leigh, SE, Leong, IUS, Maddirevula, S, Martin, CL, McDonagh, EM, Olry, A, Puzriakova, A, Radtke, K, Ramos, EM, Rath, A, Riggs, ER, Roberts, AM, Rodwell, C, Snow, C, Stark, Z, Tahiliani, J, Tweedie, S, Ware, JS, Weller, P, Williams, E, Wright, CF, Yates, TM, Rehm, HL

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Characterization of GDF2 mutations and levels of BMP9 and BMP10 in pulmonary arterial hypertension von Hodgson, J, Swietlik, EM, Salmon, RM, Hadinnapola, C, Nikolic, I, Wharton, J, Guo, J, Liley, J, Haimel, M, Bleda, M, Southgate, L, Machado, RD, Martin, JM, Treacy, CM, Yates, K, Daugherty, LC, Shamardina, O, Whitehorn, D, Holden, S, Bogaard, HJ, Church, C, Coghlan, G, Condliffe, R, Corris, PA, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Houweling, AC, Howard, L, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, MacKenzie Ross, RV, Moledina, S, Montani, D, Olschewski, A, Olschewski, H, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Prokopenko, I, Rhodes, CJ, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, MR, Trembath, RC, Vonk Noordegraaf, A, Wort, SJ, Wilkins, MR, Yu, PB, Li, W, Gräf, S, Upton, PD, Morrell, NW

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension von Gräf, S, Haimel, M, Bleda, M, Hadinnapola, C, Southgate, L, Li, W, Hodgson, J, Liu, B, Salmon, RM, Southwood, M, Machado, RD, Martin, JM, Treacy, CM, Yates, K, Daugherty, LC, Shamardina, O, Whitehorn, D, Holden, S, Aldred, M, Bogaard, HJ, Church, C, Coghlan, G, Condliffe, R, Corris, PA, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Houweling, AC, Howard, L, Humbert, M, Kiely, DG, Kovacs, G, MacKenzie Ross, RV, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, AJ, Pepke-Zaba, J, Prokopenko, I, Rhodes, CJ, Scelsi, L, Seeger, W, Soubrier, F, Stein, DF, Suntharalingam, J, Swietlik, EM, Toshner, MR, Van Heel, DA, Vonk Noordegraaf, A, Waisfisz, Q, Wharton, J, Wort, SJ, Ouwehand, WH, Soranzo, N, Lawrie, A, Upton, PD, Wilkins, MR, Trembath, RC, Morrell, NW

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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders von Simeoni, I, Stephens, JC, Hu, F, Deevi, SV, Megy, K, Bariana, TK, Lentaigne, C, Schulman, S, Sivapalaratnam, S, Vries, MJ, Westbury, SK, Greene, D, Papadia, S, Alessi, MC, Attwood, AP, Ballmaier, M, Baynam, G, Bermejo, E, Bertoli, M, Bray, PF, Bury, L, Cattaneo, M, Collins, P, Daugherty, LC, Favier, R, French, DL, Furie, B, Gattens, M, Germeshausen, M, Ghevaert, C, Goodeve, A, Guerrero, J, Hampshire, DJ, Hart, DP, Heemskerk, JW, Henskens, YM, Hill, M, Hogg, N, Jolley, JD, Kahr, WH, Kelly, AM, Kerr, R, Kostadima, M, Kunishima, S, Lambert, MP, Liesner, R, Lopez, J, Mapeta, RP, Mathias, M, Millar, CM, Nathwani, A, Neerman-Arbez, M, Nurden, AT, Nurden, P, Othman, M, Peerlinck, K, Perry, DJ, Poudel, P, Reitsma, P, Rondina, M, Smethurst, PA, Stevenson, W, Szkotak, A, Tuna, S, Van Geet, C, Whitehorn, D, Wilcox, DA, Zhang, B, Revel-Vilk, S, Gresele, P, Bellissimo, D, Penkett, CJ, Laffan, MA, Mumford, AD, Rendon, A, Gomez, K, Freson, K, Ouwehand, WH, Turro, E

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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans von Wei, Wei, Pagnamenta, Alistair T, Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Odhams, Christopher A, Fratter, Carl, Caulfield, Mark J, Taylor, Jenny C, Rahman, Shamima, Ambrose, J. C, 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, Holman, J. E, Hubbard, T. J. P, Jackson, R, 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, Tregidgo, C, Tucci, A, Walsh, E, Watters, S. A, Welland, M. J, Williams, E, Witkowska, K, Wood, S. M, Zarowiecki, M, Tuna, Salih, Turro, Ernest, Chinnery, Patrick F

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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans von Wei, Wei, Pagnamenta, Alistair T, Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Odhams, Christopher A, Fratter, Carl, Caulfield, Mark J, Taylor, Jenny C, Rahman, Shamima, Ambrose, J. C, 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, Holman, J. E, Hubbard, T. J. P, Jackson, R, 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, Tregidgo, C, Tucci, A, Walsh, E, Watters, S. A, Welland, M. J, Williams, E, Witkowska, K, Wood, S. M, Zarowiecki, M, Tuna, Salih, Turro, Ernest, Chinnery, Patrick F

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Assessing the digenic model in rare disorders using population sequencing data von Moreno-Ruiz, N, Ambrose, JC, Arumugam, P, Baple, EL, Bleda, M, Boardman-Pretty, F, Boissiere, JM, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Craig, CEH, Daugherty, LC, de Burca, A, Devereau, A, Elgar, G, Foulger, RE, Fowler, T, Furió-Tarí, P, Giess, A, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibáñez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, Lopez, FJ, Maleady-Crowe, F, Mason, J, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Orioli, A, Patch, C, Perez-Gil, D, Pereira, MB, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Smith, SC, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Tanguy, M, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Lao, O, Aróstegui, JI, Laayouni, H, Casals, F

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