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, Bralo, MP, 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, Østergaard, 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

المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075

مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_78775Test; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest; https://doi.org/10.1016/j.xhgg.2021.100075Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/1959.4/unsworks_78775Test
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest

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.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., 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., 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., Sluijs, P.J. van der, 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.

المصدر: Human Genetics and Genomics Advances

مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S2666247721000567?via%3DihubTest; lumc-id: 122261032; https://hdl.handle.net/1887/3666079Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/1887/3666079Test
https://www.sciencedirect.com/science/article/pii/S2666247721000567?via%3DihubTest

المؤلفون: Zawerton, A. (Ash), Mignot, C. (Cyril), Sigafoos, A. (Ashley), Blackburn, Patrick R., Haseeb, A. (Abdul), McWalter, K. (Kirsty), Ichikawa, S. (Shoji), Nava, C. (Caroline), Keren, B. (Boris), Charles, P. (Perrine), Marey, I. (Isabelle), Tabet, A. (Anne-Claude), Levy, J. (Jonathan), Perrin, L. (Laurence), Hartmann, A. (Andreas), Lesca, G. (Gaetan), Schluth-Bolard, C. (Caroline), Monin, P. (Pauline), Dupuis-Girod, S. (Sophie), Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Z. (Zehua), Poisson, A. (Alice), El Chehadeh, S. (Salima), Alembik, Y. (Yves), Bruel, A. (Ange-Line), Lehalle, D. (Daphné), Nambot, S. (Sophie), Moutton, S. (Sébastien), Odent, S. (Sylvie), Jaillard, S. (Sylvie), Dubourg, C. (Christèle), Hilhorst-Hofstee, Y. (Yvonne), Barbaro-Dieber, T. (Tina), Ortega, L. (Lucia), Bhoj, Elizabeth J., Masser-Frye, D. (Diane), Bird, Lynne M., Lindstrom, K. (Kristin), Ramsey, Keri M., Narayanan, V. (Vinodh), Fassi, E. (Emily), Willing, M. (Marcia), Cole, T. (Trevor), Salter, Claire G., Akilapa, R. (Rhoda), Vandersteen, A. (Anthony), Canham, N. (Natalie), Rump, P. (Patrick), Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, E. (Emilia), Hoffer, M. (Mariëtte), Vargas, M. (Marcelo), Wojcik, A. (Antonina), Cherik, F. (Florian), Francannet, C. (Christine), Rosenfeld, Jill A., Machol, K. (Keren), Scott, Daryl A., Bacino, Carlos A., Wang, X. (Xia), Clark, Gary D., Bertoli, M. (Marta), Zwolinski, S. (Simon), Thomas, Rhys H., Akay, E. (Ela), Chang, Richard C., Bressi, R. (Rebekah), Sanchez Russo, R. (Rossana), Srour, M. (Myriam), Russell, L. (Laura), Goyette, Anne-Marie E., Dupuis, L. (Lucie), Mendoza-Londono, R. (Roberto), Karimov, C. (Catherine), Joseph, M. (Maries), Nizon, M. (Mathilde), Cogné, B. (Benjamin), Kuechler, A. (Alma), Piton, A. (Amélie), Klee, Eric W., Lefebvre, V. (Véronique), Clark, Karl J., Depienne, C. (Christel)

مصطلحات موضوعية: Aucun

الإتاحة: https://linkinghub.elsevier.com/retrieve/pii/S1098360021012363Test

المؤلفون: Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C., Deciphering Dev Disorder Study

المصدر: Genetics in Medicine

مصطلحات موضوعية: autism, developmental delay, intellectual disability, epilepsy, missense variants

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3DihubTest; lumc-id: 112023180; https://hdl.handle.net/1887/3184942Test

الإتاحة: https://doi.org/10.1038/s41436-019-0657-0Test
https://hdl.handle.net/1887/3184942Test
https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3DihubTest

المؤلفون: Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet A-C, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel A-L, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette A-ME, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogne B, Kuechler A, Piton A, Klee EW, Lefebvre V, Clark KJ, Depienne C

المصدر: Genetics in Medicine, 2019

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=261308/6B3FC06A-3532-43E1-BE9D-F31306167F9B.pdf&pub_id=261308Test