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1دورية أكاديمية
المؤلفون: Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, Bonneau, D, Brunetti-Pierri, N, Cappuccio, G, Caruana, NJ, Dominik, N, Goel, H, Helman, G, Houlden, H, Lenaers, G, Mention, K, Murphy, D, Nandeesh, B, Olimpio, C, Powell, CA, Preethish-Kumar, V, Procaccio, V, Rius, R, Rebelo-Guiomar, P, Simons, C, Vengalil, S, Zaki, MS, Ziegler, A, Thorburn, DR, Stroud, DA, Maroofian, R, Christodoulou, J, Gustafsson, C, Nalini, A, Lochmüller, H, Minczuk, M, Horvath, R
العلاقة: NHMRC/1140851; NHMRC/1140906; pii: 10.1038/s41467-023-36277-7; Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D. H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N. J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G. ,. Horvath, R. (2023). TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun, 14 (1), pp.1009-. https://doi.org/10.1038/s41467-023-36277-7Test.; http://hdl.handle.net/11343/327342Test
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2دورية أكاديمية
المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.
المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.
مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827
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3دورية أكاديمية
المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Ostergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B
العلاقة: pii: S2666-2477(21)00056-7; Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S. ,. Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HUMAN GENETICS AND GENOMICS ADVANCES, 3 (1), https://doi.org/10.1016/j.xhgg.2021.100075Test.; http://hdl.handle.net/11343/305257Test
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4دورية أكاديمية
المؤلفون: Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, Compton, AG, Thorburn, DR, Amarasekera, S, Marum, J, Monaco, A, Lee, C, Chong, B, Lunke, S, Stark, Z, Christodoulou, J
العلاقة: pii: JMD212280; Akesson, L. S., Rius, R., Brown, N. J., Rosenbaum, J., Donoghue, S., Stormon, M., Chai, C., Bordador, E., Guo, Y., Hakonarson, H., Compton, A. G., Thorburn, D. R., Amarasekera, S., Marum, J., Monaco, A., Lee, C., Chong, B., Lunke, S., Stark, Z. & Christodoulou, J. (2022). Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies. JIMD Rep, 63 (3), pp.240-249. https://doi.org/10.1002/jmd2.12280Test.; http://hdl.handle.net/11343/308201Test
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5دورية أكاديمية
المؤلفون: Frazier, A.E., Compton, A.G., Kishita, Y., Hock, D.H., Welch, A.E., Amarasekera, S.S.C., Rius, R., Formosa, L.E., Imai-Okazaki, A., Francis, D., Wang, M., Lake, N.J., Tregoning, S., Jabbari, J.S., Lucattini, A., Nitta, K.R., Ohtake, A., Murayama, K., Amor, D.J., McGillivray, G., Wong, F.Y., van der Knaap, M.S., Vermeulen, R.J., Wiltshire, E.J., Fletcher, J.M., Lewis, B., Baynam, G., Ellaway, C., Balasubramaniam, S., Bhattacharya, K., Freckmann, M.L., Arbuckle, S., Rodriguez, M., Taft, R.J., Sadedin, S., Cowley, M.J., Minoche, A.E., Calvo, S.E., Mootha, V.K., Ryan, M.T., Okazaki, Y., Stroud, D.A., Simons, C., Christodoulou, J., Thorburn, D.R.
المصدر: Frazier , A E , Compton , A G , Kishita , Y , Hock , D H , Welch , A E , Amarasekera , S S C , Rius , R , Formosa , L E , Imai-Okazaki , A , Francis , D , Wang , M , Lake , N J , Tregoning , S , Jabbari , J S , Lucattini , A , Nitta , K R , Ohtake , A , Murayama , K , Amor , D J , McGillivray , G , Wong , F Y , van der Knaap ....
مصطلحات موضوعية: COPY-NUMBER VARIANTS, COMPLEX I DEFICIENCY, GENOMIC DISORDERS, COMPUTATIONAL PLATFORM, MEMBRANE-PROTEIN, HIGH-THROUGHPUT, DNA, CHOLESTEROL, MUTATIONS, ARCHITECTURE
الإتاحة: https://doi.org/10.1016/j.medj.2020.06.004Test
https://cris.maastrichtuniversity.nl/en/publications/7756a957-e08a-4726-bad7-09b0a6653700Test -
6دورية أكاديمية
المؤلفون: Rius, R, Compton, AG, Baker, NL, Welch, AE, Coman, D, Kava, MP, Minoche, AE, Cowley, MJ, Thorburn, DR, Christodoulou, J
العلاقة: pii: genes12040607; Rius, R., Compton, A. G., Baker, N. L., Welch, A. E., Coman, D., Kava, M. P., Minoche, A. E., Cowley, M. J., Thorburn, D. R. & Christodoulou, J. (2021). Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. GENES, 12 (4), https://doi.org/10.3390/genes12040607Test.; http://hdl.handle.net/11343/278135Test
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7دورية أكاديمية
المؤلفون: Sue, CM, Balasubramaniam, S, Bratkovic, D, Bonifant, C, Christodoulou, J, Coman, D, Crawley, K, Edema-Hildebrand, F, Ellaway, C, Ghaoui, R, Kava, M, Kearns, LS, Lee, J, Liang, C, Mackey, DA, Murray, S, Needham, M, Rius, R, Russell, J, Smith, NJC, Thyagarajan, D, Wools, C
العلاقة: Sue, C. M., Balasubramaniam, S., Bratkovic, D., Bonifant, C., Christodoulou, J., Coman, D., Crawley, K., Edema-Hildebrand, F., Ellaway, C., Ghaoui, R., Kava, M., Kearns, L. S., Lee, J., Liang, C., Mackey, D. A., Murray, S., Needham, M., Rius, R., Russell, J. ,. Wools, C. (2021). Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. INTERNAL MEDICINE JOURNAL, 52 (1), pp.110-120. https://doi.org/10.1111/imj.15505Test.; http://hdl.handle.net/11343/289924Test
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8دورية أكاديمية
المؤلفون: Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS
العلاقة: pii: ACN3780; Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D. ,. Ng, Y. S. (2019). Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019). ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 6 (4), pp.821-821. https://doi.org/10.1002/acn3.780Test.; http://hdl.handle.net/11343/271489Test
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9دورية أكاديمية
المؤلفون: Rius, R, Van Bergen, NJ, Compton, AG, Riley, LG, Kava, MP, Balasubramaniam, S, Amor, DJ, Fanjul-Fernandez, M, Cowley, MJ, Fahey, MC, Koenig, MK, Enns, GM, Sadedin, S, Wilson, MJ, Tan, TY, Thorburn, DR, Christodoulou, J
العلاقة: pii: jcm8112020; Rius, R., Van Bergen, N. J., Compton, A. G., Riley, L. G., Kava, M. P., Balasubramaniam, S., Amor, D. J., Fanjul-Fernandez, M., Cowley, M. J., Fahey, M. C., Koenig, M. K., Enns, G. M., Sadedin, S., Wilson, M. J., Tan, T. Y., Thorburn, D. R. & Christodoulou, J. (2019). Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Journal of Clinical Medicine, 8 (11), https://doi.org/10.3390/jcm8112020Test.; http://hdl.handle.net/11343/240623Test
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10دورية أكاديمية
المؤلفون: Levy M. A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Ferilli M., Fletcher R. S., Cherick F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.
المساهمون: Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.
مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967