Human genetics : problems and approaches / by Vogel, Friedrich, 1925-, Motulsky, Arno G., 1923-

Machine learning in toxicological sciences: opportunities for assessing drug toxicity by Lusine Tonoyan, Lusine Tonoyan, Arno G. Siraki

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Early Detection of Late Onset Sepsis in Extremely Preterm Infants Using Machine Learning: Towards an Early Warning System by Arno G. Garstman, Cristian Rodriguez Rivero, Wes Onland

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Target identification of small molecules: an overview of the current applications in drug discovery by Yasser Tabana, Dinesh Babu, Richard Fahlman, Arno G. Siraki, Khaled Barakat

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Directing oat groat heat treatment conditions towards increased protein extractability by Ines Pynket, Frederik Janssen, Jarne Van Gils, Christophe M. Courtin, Arno G.B. Wouters

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Effect of Plasma-Activated Water Bubbles on <i>Fusarium graminearum</i>, Deoxynivalenol, and Germination of Naturally Infected Barley during Steeping by Ehsan Feizollahi, Urmila Basu, Rudolph Fredua-Agyeman, Brasathe Jeganathan, Lusine Tonoyan, Stephen E. Strelkov, Thava Vasanthan, Arno G. Siraki, M. S. Roopesh

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Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy by Hull, S, Arno, G, Robson, A, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, G, Moore, A, Khan, K, Webster, A

The immunological activities and transcriptome analysis of a potent small-molecule immunomodulator by Yasser Tabana, Shima Shahbaz, Dinesh Babu, Marawan Ahmed, Tae Chul Moon, Frederick G. West, Richard Fahlman, Arno G. Siraki, Shokrollah Elahi, Khaled Barakat

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Proof of concept: Pull down assay using bovine serum albumin and an immunomodulator small molecule by Yasser Tabana, Chih-Hsuan Lin, Dinesh Babu, Ramanaguru Siva‐Piragasam, Ashley A. Ponich, Tae Chul Moon, Arno G. Siraki, Shokrollah Elahi, Richard Fahlman, Frederick G. West, Khaled Barakat

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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa by Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, K, Raymond, F, Cheetham, M, Webster, A, Downes, S, Hardcastle, A, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium

Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration by Arno, G, Carss, KJ, Hull, S, Zihni, C, Robson, AG, Fiorentino, A, UK Inherited Retinal Disease Consortium, Hardcastle, AJ, Holder, GE, Cheetham, ME, Plagnol, V, NIHR Bioresource - Rare Diseases Consortium, Moore, AT, Raymond, FL, Matter, K, Balda, MS, Webster, AR

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data by Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, T, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, J, Clark, T, Gregory, D, Nemeth, A, Halford, S, Inglehearn, C, Downes, S, Black, G, Webster, A, Hardcastle, A, Plagnol, V

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) by Nguyen, Q, Woof, W, Kabiri, N, Sen, S, Daich Varela, M, Cabral De Guimaraes, TA, Shah, M, Sumodhee, D, Moghul, I, Al-Khuzaei, S, Liu, Y, Hollyhead, C, Tailor, B, Lobo, L, Veal, C, Archer, S, Furman, J, Arno, G, Gomes, M, Fujinami, K, Madhusudhan, S, Mahroo, OA, Webster, AR, Balaskas, K, Downes, SM, Michaelides, M, Pontikos, N

Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease by Carss, K, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, R, Clement, E, Allen, L, Armstrong, R, Brady, A, Carmichael, J, Chitre, M, Henderson, R, Hurst, J, Maclaren, R, Murphy, E, Paterson, J, Rosser, E, Thompson, D, Wakeling, E, Ouwehand, W, Michaelides, M, Moore, A, Nihr-Bioresource Rare Diseases Consortium, Webster, A, Raymond, F

Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies by Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Li, H, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, UK Inherited Retinal Dystrophy Consortium, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF

Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes by Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Ashford, S, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Carss, K, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Mapeta, R, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Megy, K, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Ouwehand, WH, Papadia, S, Park, S-M, Parker, A, Pasi, J, Patch, C, Paterson, J, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stephens, J, Stirrups, K, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, Yu, P

De novo truncating mutations in WASF1 cause intellectual disability with seizures by Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, Van Bokhoven, H, Van Essen, A, Van Ravenswaaij-Arts, C, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Raymond, FL, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Carss, KJ, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Kurian, MA, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sanchis-Juan, A, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Walker, S, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Boycott, KM, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D