المؤلفون: Verberne, EA, van der Laan, L, Haghshenas, S, Rooney, K, Levy, MA, Alders, M, Maas, SM, Jansen, S, Lieden, A, Anderlid, BM, Rafael-Croes, L, Campeau, PM, Chaudhry, A, Koolen, DA, Pfundt, R, Hurst, ACE, Tran-Mau-Them, F, Bruel, AL, Lambert, L, Isidor, B, Mannens, MMAM, Sadikovic, B, Henneman, P, van Haelst, MM

المصدر: International journal of molecular sciences. 23(14)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:150334303Test

المؤلفون: Jia, X., Zhang, S., Tan, S., Du, B., He, M., Qin, H., Chen, J., Duan, X., Luo, J., Chen, F., Ouyang, L., Wang, J., Chen, G., Yu, B., Zhang, G., Zhang, Z., Lyu, Y., Huang, Y., Jiao, J., Chen, J. Y. H., Swoboda, K. J., Agolini, E., Novelli, A., Leoni, C., Zampino, G., Cappuccio, G., Brunetti-Pierri, N., Gerard, B., Ginglinger, E., Richer, J., Mcmillan, H., White-Brown, A., Hoekzema, K., Bernier, R. A., Kurtz-Nelson, E. C., Earl, R. K., Meddens, C., Alders, M., Fuchs, M., Caumes, Roselyne, Brunelle, Perrine, Smol, Thomas, Kuehl, R., Day-Salvatore, D. L., Monaghan, K. G., Morrow, M. M., Eichler, E. E., Hu, Z., Yuan, L., Tan, J., Xia, K., Shen, Y., Guo, H.

المساهمون: Université de Lille, CHU Lille, Laboratoire de Diagnostic Génétique CHU Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Science Advances; Sci Adv; http://hdl.handle.net/20.500.12210/84140Test

الإتاحة: https://doi.org/20.500.12210/84140Test
https://hdl.handle.net/20.500.12210/84140Test

المؤلفون: Schühle, P., Stöber, R., Semmel, M., Schaadt, A., Szolak, R., Thill, S., Alders, M., Hebling, C., Wasserscheid, P., Salem, O.

المصدر: Energy & Environmental Science ; volume 16, issue 7, page 3002-3013 ; ISSN 1754-5692 1754-5706

الإتاحة: https://doi.org/10.1039/d3ee00228dTest
http://pubs.rsc.org/en/content/articlepdf/2023/EE/D3EE00228DTest

المؤلفون: Foroutan A., Haghshenas S., Bhai P., Levy M. A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A. -S.

المساهمون: Foroutan A., Haghshenas S., Bhai P., Levy M.A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A.-S.

مصطلحات موضوعية: Abnormalities, Multiple, Craniofacial Abnormalitie, DNA methylation, Epigenetic, Episignature, Facie, Growth Disorder, Human, Hypertrichosi, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Phenotype, Wiedemann–Steiner syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10447/547094Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123938038

الإتاحة: https://doi.org/10.3390/ijms23031815Test
http://hdl.handle.net/10447/547094Test

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: Karimi K., Mol M. O., Haghshenas S., Relator R., Levy M. A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E. H., Tedder M. L., Vissers L., Salzano E., Piccione M., Asaftei S. D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M. M., Bouman A., Sadikovic B.

المساهمون: Karimi K., Mol M.O., Haghshenas S., Relator R., Levy M.A., Kerkhof J., McConkey H., Brooks A., Zonneveld-Huijssoon E., Gerkes E.H., Tedder M.L., Vissers L., Salzano E., Piccione M., Asaftei S.D., Carli D., Mussa A., Shukarova-Angelovska E., Trajkova S., Brusco A., Merla G., Alders M.M., Bouman A., Sadikovic B.

مصطلحات موضوعية: CTCF, DNA methylation, Developmental disorder, Episignature,IDD21

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38054406; volume:26; issue:3; firstpage:101041; numberofpages:14; journal:GENETICS IN MEDICINE; https://hdl.handle.net/10447/623193Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182571710

الإتاحة: https://doi.org/10.1016/j.gim.2023.101041Test
https://hdl.handle.net/10447/623193Test

المؤلفون: Kerkhof, J, Rastin, C, Levy, MA, Relator, R, McConkey, H, Demain, L, Dominguez-Garrido, E, Kaat, LD, Houge, SD, DuPont, BR, Fee, T, Gokhale, D, Haukanes, BI, Henneman, P, Hilton, BA, Louie, RJ, Motazacker, MM, Rzasa, J, Plomp, A, van der Laan, L, van der Smagt, J, Walden, KK, Banka, S, Mannens, M, Skinner, SA, Friez, MJ, Tedder, ML, Alders, M, Sadikovic, B

المصدر: Kerkhof , J , Rastin , C , Levy , MA , Relator , R , McConkey , H , Demain , L , Dominguez-Garrido , E , Kaat , LD , Houge , SD , DuPont , BR , Fee , T , Gokhale , D , Haukanes , BI , Henneman , P , Hilton , BA , Louie , RJ , Motazacker , MM , Rzasa , J , Plomp , A , van der Laan , L , van der Smagt , J , Walden , KK , Banka , S , Mannens , M ....

مصطلحات موضوعية: DNA methylation, EpiSign, Episignature, Molecular diagnostics, VUS classi fi cation

العلاقة: https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest

الإتاحة: https://doi.org/10.1016/j.gim.2024.101075Test
https://research.manchester.ac.uk/en/publications/392b223a-877d-4c89-ba37-a44eac3d0adcTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001204147500001&DestLinkType=FullRecord&DestApp=WOS_CPLTest

المؤلفون: Jia, X., Zhang, S., Tan, S., Du, B., He, M., Qin, H., Chen, J., Duan, X., Luo, J., Chen, F., Ouyang, L., Wang, J., Chen, G., Yu, B., Zhang, G., Zhang, Z., Lyu, Y., Huang, Y., Jiao, J., Chen, J. Y. H., Swoboda, K. J., Agolini, E., Novelli, A., Leoni, C., Zampino, G., Cappuccio, G., Brunetti-Pierri, N., Gerard, B., Ginglinger, E., Richer, J., Mcmillan, H., White-Brown, A., Hoekzema, K., Bernier, R. A., Kurtz-Nelson, E. C., Earl, R. K., Meddens, C., Alders, M., Fuchs, M., Caumes, Roselyne, Brunelle, Perrine, Smol, Thomas, Kuehl, R., Day-Salvatore, D. L., Monaghan, K. G., Morrow, M. M., Eichler, E. E., Hu, Z., Yuan, L., Tan, J., Xia, K., Shen, Y., Guo, H.

المساهمون: Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.univ-lille.fr/hal-04470583Test ; Science Advances , 2022, Science Advances, 8, pp.eabo7112. ⟨10.1126/sciadv.abo7112⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35977029; hal-04470583; https://hal.univ-lille.fr/hal-04470583Test; https://hal.univ-lille.fr/hal-04470583/documentTest; https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdfTest; PUBMED: 35977029

الإتاحة: https://doi.org/10.1126/sciadv.abo7112Test
https://hal.univ-lille.fr/hal-04470583Test
https://hal.univ-lille.fr/hal-04470583/documentTest
https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdfTest

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: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, FionaMaleady-Crowe, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Pullinger, J, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdfTest; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

الإتاحة: https://eprints.whiterose.ac.uk/190170Test/
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdfTest