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

الإتاحة: https://doi.org/10.1038/s41467-023-36277-7Test
http://hdl.handle.net/11343/327342Test

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

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

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

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/11343/305257Test

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

الإتاحة: https://doi.org/10.1002/jmd2.12280Test
http://hdl.handle.net/11343/308201Test

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

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

الإتاحة: https://doi.org/10.3390/genes12040607Test
http://hdl.handle.net/11343/278135Test

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

الإتاحة: https://doi.org/10.1111/imj.15505Test
http://hdl.handle.net/11343/289924Test

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

الإتاحة: https://doi.org/10.1002/acn3.780Test
http://hdl.handle.net/11343/271489Test

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

الإتاحة: https://doi.org/10.3390/jcm8112020Test
http://hdl.handle.net/11343/240623Test

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

الإتاحة: https://doi.org/10.1002/humu.24446Test
https://hdl.handle.net/10447/579330Test