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: Levy, M, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Haghshenas, S, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Mannens, M, Roscioli, T, Siu, V, Amor, D, Baynam, G, Bend, E, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J, Genèvieve, D, Kerrnohan, KKD, McNeill, A, Menke, L, Faivre, L, Merla, G, Prontera, P, Rockman, C, Schwartz, C, Skinner, S, DuPont, B, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M, Sadikovic, B

المصدر: Levy , M , Relator , R , McConkey , H , Pranckeviciene , E , Kerkhof , J , Haghshenas , S , Azmanov , D , Balci , T , Banka , S , Gecz , J , Henneman , P , Mannens , M , Roscioli , T , Siu , V , Amor , D , Baynam , G , Bend , E , Boycott , K , Brunetti-Pierri , N , Campeau , PM , Christodoulou , J , Dyment , D , Esber , N , Fahrner , J , Genèvieve , D ....

العلاقة: https://research.manchester.ac.uk/en/publications/c8467718-5fd5-4dc0-bdd6-25c2fcfcdaf6Test

الإتاحة: https://doi.org/10.1038/s41431-023-01346-4Test
https://research.manchester.ac.uk/en/publications/c8467718-5fd5-4dc0-bdd6-25c2fcfcdaf6Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507002267&DestLinkType=FullRecord&DestApp=WOSTest

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

المؤلفون: Akin L., Rizzoti K., Gregory L. C., Corredor B., Le Quesne Stabej P., Williams H., Buonocore F., Mouilleron S., Capra V., McGlacken-Byrne S. M., Martos-Moreno G. A., Azmanov D. N., Kendirci M., Kurtoglu S., Suntharalingham J. P., Galichet C., Gustincich S., Tasic V., Achermann J. C., Accogli A., Filipovska A., Tuilpakov A., Maghnie M., Gucev Z., Gonen Z. B., Perez-Jurado L. A., Robinson I., Lovell-Badge R., Argente J., Dattani M. T.

المساهمون: Akin, L., Rizzoti, K., Gregory, L. C., Corredor, B., Le Quesne Stabej, P., Williams, H., Buonocore, F., Mouilleron, S., Capra, V., McGlacken-Byrne, S. M., Martos-Moreno, G. A., Azmanov, D. N., Kendirci, M., Kurtoglu, S., Suntharalingham, J. P., Galichet, C., Gustincich, S., Tasic, V., Achermann, J. C., Accogli, A., Filipovska, A., Tuilpakov, A., Maghnie, M., Gucev, Z., Gonen, Z. B., Perez-Jurado, L. A., Robinson, I., Lovell-Badge, R., Argente, J., Dattani, M. T.

مصطلحات موضوعية: Growth hormone deficiency, Hypopituitarism, Minor spliceosome, Primary ovarian insufficiency, U12-type spliceosome

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34906446; info:eu-repo/semantics/altIdentifier/wos/WOS:000797597400011; volume:24; firstpage:384; lastpage:397; numberofpages:14; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1070296Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122915228

الإتاحة: https://doi.org/10.1016/j.gim.2021.09.019Test
http://hdl.handle.net/11567/1070296Test

المؤلفون: Cabrera-Serrano, M, Coote, DJ, Azmanov, D, Goullee, H, Andersen, E, McLean, C, Davis, M, Ishimura, R, Stark, Z, Vallat, J-M, Komatsu, M, Kornberg, A, Ryan, M, Laing, NG, Ravenscroft, G

العلاقة: pii: jmedgenet-2019-106496; Cabrera-Serrano, M., Coote, D. J., Azmanov, D., Goullee, H., Andersen, E., McLean, C., Davis, M., Ishimura, R., Stark, Z., Vallat, J. -M., Komatsu, M., Kornberg, A., Ryan, M., Laing, N. G. & Ravenscroft, G. (2020). A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. JOURNAL OF MEDICAL GENETICS, 57 (12), pp.835-842. https://doi.org/10.1136/jmedgenet-2019-106496Test.; http://hdl.handle.net/11343/278762Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106496Test
http://hdl.handle.net/11343/278762Test

المؤلفون: Jablensky, A, Angelicheva, D, Donohoe, G J, Cruickshank, M, Azmanov, D N, Morris, D W, McRae, A, Weickert, C S, Carter, K W, Chandler, D, Alexandrov, B, Usheva, A, Morar, B, Verbrugghe, P L, Filipovska, A, Rackham, O, Bishop, A R, Rasmussen, K Ø, Dragovic, M, Cooper, M, Phillips, M, Badcock, J, Bramon-Bosch, E, Almeida, O P, Flicker, L, Gill, M, Corvin, A, MacGregor, S, Kalaydjieva, L

المصدر: Molecular Psychiatry ; volume 17, issue 12, page 1328-1339 ; ISSN 1359-4184 1476-5578

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Molecular Biology

الإتاحة: https://doi.org/10.1038/mp.2011.129Test
https://www.nature.com/articles/mp2011129.pdfTest
https://www.nature.com/articles/mp2011129Test

المؤلفون: Davis, M., Faiz, F., Woodward, K., Clayton, J., Robertson, T., Azmanov, D., Cairns, A.

المصدر: Neuromuscular Disorders ; volume 29, page S134 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.345Test
https://api.elsevier.com/content/article/PII:S0960896619307333?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896619307333?httpAccept=text/plainTest

المؤلفون: Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, Richard, Lewis, B., Dawkins, H., Broley, S., Baynam, G.

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Aboriginal, IGF2, macrocephaly, Silver-Russel syndrome, IGF2 MUTATION

وصف الملف: restricted

العلاقة: http://hdl.handle.net/20.500.11937/83805Test

الإتاحة: https://doi.org/20.500.11937/83805Test
https://doi.org/10.1002/ajmg.a.40502Test
https://hdl.handle.net/20.500.11937/83805Test

المؤلفون: Cabrera, M., Ravenscroft, G., Andersen, E., McLean, C., Azmanov, D., Stark, Z., Davis, M., Kornberg, A., Ryan, M., Laing, N.

المصدر: Neuromuscular Disorders ; volume 26, page S140-S141 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2016.06.200Test
https://api.elsevier.com/content/article/PII:S096089661630493X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S096089661630493X?httpAccept=text/plainTest