المؤلفون: Moore, A.R., Yu, J., Pei, Y., Cheng, E.W.Y., Taylor Tavares, A.L., Walker, W.T., Thomas, N.S., Kamath, A., Ibitoye, R., Josifova, D., Wilsdon, A., Ross, A., Calder, A.D., Offiah, A.C., Wilkie, A.O.M., Genomics England Research Consortium, Taylor, J.C., Pagnamenta, A.T.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/202596/1/jmg-2023-109362.full.pdfTest; Moore, A.R. orcid.org/0009-0007-9595-7786 , Yu, J., Pei, Y. et al. (15 more authors) (2023) Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of Medical Genetics. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/202596Test/
https://eprints.whiterose.ac.uk/202596/1/jmg-2023-109362.full.pdfTest
https://jmg.bmj.com/content/early/2023/08/09/jmg-2023-109362Test

المؤلفون: Calpena, E. (Eduardo), Cuellar, A. (Araceli), Bala, K. (Krithi), Swagemakers, S.M.A. (Sigrid), Koelling, N. (Nils), McGowan, S.J. (Simon), Phipps, J.M. (Julie), Balasubramanian, M. (Meena), Cunningham, M.L. (Michael L.), Douzgou, S. (Sofia), Lattanzi, W. (Wanda), Morton, J. (Jenny), Shears, D.J. (Deborah), Weber, A. (Astrid), Wilson, L.C. (Louise), Lord, H. (Helen), Lester, K.J. (Kathryn), Johnson, D. (David), Wall, S.A. (Steven), Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene M. J.), Boardman-Pretty, F. (Freya), Boyadjiev, S.A. (Simeon A.), Wilkie, A.O.M. (Andrew)

المصدر: Genetics in Medicine

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/128835Test; urn:hdl:1765/128835

الإتاحة: https://doi.org/10.1038/s41436-020-0886-2Test
http://repub.eur.nl/pub/128835Test

المؤلفون: Calpena, E. (Eduardo), Cuellar, A. (Araceli), Bala, K. (Krithi), Swagemakers, S.M.A. (Sigrid), Koelling, N. (Nils), McGowan, S.J. (Simon), Phipps, J.M. (Julie), Balasubramanian, M. (Meena), Cunningham, M.L. (Michael L.), Douzgou, S. (Sofia), Lattanzi, W. (Wanda), Morton, J. (Jenny), Shears, D.J. (Deborah), Weber, A. (Astrid), Wilson, L.C. (Louise), Lord, H. (Helen), Lester, K.J. (Kathryn), Johnson, D. (David), Wall, S.A. (Steven A.), Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene M. J.), Boyadjiev, S.A. (Simeon A.), Wilkie, A.O.M. (Andrew)

المصدر: Genetics in Medicine

مصطلحات موضوعية: BMP2, digenic inheritance, metopic synostosis, protein instability, two-locus

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/127739Test; urn:hdl:1765/127739

الإتاحة: https://doi.org/10.1038/s41436-020-0817-2Test
http://repub.eur.nl/pub/127739Test

المؤلفون: Calpena, E., Cuellar, A., Bala, K., Swagemakers, S.M.A., Koelling, N., McGowan, S.J., Phipps, J.M., Balasubramanian, M., Cunningham, M.L., Douzgou, S., Lattanzi, W., Morton, J.E.V., Shears, D., Weber, A., Wilson, L.C., Lord, H., Lester, T., Johnson, D., Wall, S.A., Twigg, S.R.F., Mathijssen, I.M.J., Boyadjiev, S.A., Wilkie, A.O.M.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/161758/3/s41436-020-0817-2.pdfTest; Calpena, E., Cuellar, A., Bala, K. et al. (20 more authors) (2020) SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22 (9). pp. 1498-1506. ISSN 1098-3600

الإتاحة: https://eprints.whiterose.ac.uk/161758Test/
https://eprints.whiterose.ac.uk/161758/3/s41436-020-0817-2.pdfTest

المؤلفون: Calpena, E., Hervieu, A., Kaserer, T., Swagemakers, S.M.A. (Sigrid), Goos, J.A.C. (Jacqueline), Popoola, O., Ortiz-Ruiz, M.J., Barbaro-Dieber, T., Bownass, L., Brilstra, EH, Brimble, E., Foulds, N., Grebe, T.A., Harder, A.V.E., Lees, M.M. (Melissa), Monaghan, K. G., Newbury-Ecob, R.A., Ong, K.-R. (Kai-Ren), Osio, D., Santos, F.J.R., Ruzhnikov, M.R.Z., Telegrafi, A., Binsbergen, E. (Ellen) van, Van Dooren, B. (Bas) van, Spek, P.J. (Peter) van der, Blagg, J., Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene), Clarke, P.A. (Paul), Wilkie, A.O.M. (Andrew)

المصدر: American Journal of Human Genetics vol. 104 no. 4, pp. 709-720

مصطلحات موضوعية: CDK8, kinase, Mediator complex, hypotonia, de novo mutation, intellectual disability, behavioral disorder, congenital heart disease, dominant negative, Mediator kinase modulopathy

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/116335Test; urn:hdl:1765/116335

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.006Test
http://repub.eur.nl/pub/116335Test

المؤلفون: Reijnders, M.R.F. (Margot R.F.), Miller, K.A. (Kerry A.), Alvi, M. (Mohsan), Goos, J.A.C. (Jacqueline), Lees, M.M. (Melissa), de Burca, A. (Anna), Henderson, A. (Alex), Kraus, A. (Alison), Mikat, B. (Barbara), Vries, B. (Boukje) de, Isidor, B. (Bertrand), Kerr, B. (Bronwyn), Marcelis, C.L.M. (Carlo), Schluth-Bolard, C. (Caroline), Deshpande, C. (Charu), Ruivenkamp, C.A. (Claudia), Wieczorek, D. (Dagmar), Baralle, D. (Diana), Blair, E.M. (Ed), Engels, H. (Hartmut), Lüdecke, H.-J. (Hermann-Josef), Eason, J. (Jacqueline), Santen, G.W.E. (Gijs), Clayton-Smith, J., Chandler, K. (Kate), Tatton-Brown, K. (Katrina), Payne, K. (Katelyn), Helbig, K. (Katherine), Radtke, K. (Kelly), Nugent, K.M. (Kimberly M.), Cremer, K. (Kirsten), Strom, T.M. (Tim), Bird, L.M. (Lynne), Sinnema, M. (Margje), Bitner-Glindzicz, M. (M.), Dooren, M.F. (Marieke) van, Alders, M. (Mariëlle), Koopmans, M. (Marije), Brick, L. (Lauren), Kozenko, M. (Mariya), Harline, M.L. (Megan L.), Klaassens, M. (Merel), Steinraths, M. (Michelle), Cooper, N. (Nicola), Edery, P. (Patrick), Yap, P. (Patrick), Terhal, P. (Paulien), van der Spek, P.J. (Peter J.), Lakeman, P. (Phillis), Taylor, R.L. (Rachel L.), Littlejohn, R.O. (Rebecca Okashah), Pfundt, R. (Rolph), Mercimek-Andrews, S. (Saadet), Stegmann, A.P.A. (Alexander P.A.), Kant, S.G. (Sarina), McLean, S. (Scott), Joss, S. (Shelagh), Swagemakers, S.M.A. (Sigrid), Douzgou, S. (Sofia), Wall, S.A. (Steven), Küry, S. (Sébastien), Calpena, E. (Eduardo), Koelling, N. (Nils), McGowan, S.J. (Simon), Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene M.J.), Nellaker, C. (Christoffer), Brunner, H.G., Wilkie, A.O.M. (Andrew)

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: facial averaging, haploinsufficiency, intellectual disability, kinase, Tousled-like

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/107127Test; urn:hdl:1765/107127

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.014Test
http://repub.eur.nl/pub/107127Test

المؤلفون: Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmüller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M.R., Cho, M.T., Thiel, C.T., Lüdecke, H.J., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B., Reis, A.

المصدر: Am. J. Hum. Genet. 102, 468-479 (2018)

مصطلحات موضوعية: Autism Spectrum Disorder, Baf Complex, Coffin-siris Syndrome, Dominant Negative, Dpf2, Histone Modification, Intellectual Disability, Nail Hypoplasia, Nuclear Aggregates, Phd Finger

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29429572; info:eu-repo/semantics/altIdentifier/wos/WOS:000426469600017; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52940Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.01.014Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52940Test

المؤلفون: Giannoulatou, E. (Eleni), Maher, G.J. (Geoffrey), Ding, Z. (Zhihao), Gillis, A.J.M. (Ad J. M.), Dorssers, L.C.J. (Lambert), Hoischen, A. (Alex), Meyts, E.R.-D. (Ewa Rajpert-De), McVean, G. (Gil), Wilkie, A.O.M. (Andrew), Looijenga, L.H.J. (Leendert), Goriely, A. (Anne)

المصدر: PLoS ONE vol. 12 no. 5

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/100044Test; urn:hdl:1765/100044

الإتاحة: https://doi.org/10.1371/journal.pone.0178169Test
http://repub.eur.nl/pub/100044Test

المؤلفون: Goos, J.A.C. (Jacqueline), Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Dooren, M.F. (Marieke) van, Hoogeboom, A.J.M. (Jeannette), Beetz, C. (Christian), Günther, S. (Sven), Magielsen, F.J. (Frank J.), Ockeloen, C. (Charlotte), A Ramos-Arroyo, M. (Maria), Pfundt, R. (Rolph), Yntema, H.G., Spek, P.J. (Peter) van der, Stanier, P. (Philip), Wieczorek, D. (Dagmar), Wilkie, A.O.M. (Andrew), Ouweland, A.M.W. (Ans) van den, Mathijssen, I.M.J. (Irene M J), Hurst, J.A. (Jane)

المصدر: European Journal of Human Genetics vol. 25 no. 10, pp. 1126-1133

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/103567Test; urn:hdl:1765/103567

الإتاحة: https://doi.org/10.1038/ejhg.2017.107Test
http://repub.eur.nl/pub/103567Test

المؤلفون: Miller, K.A. (Kerry A.), Twigg, S.R.F. (Stephen), McGowan, S.J. (Simon), Phipps, J.M. (Julie), Fenwick, A.L. (Aimée), Johnson, D. (David), Wall, S.A. (Steven), Noons, P. (Peter), Rees, K.E.M. (Katie E.M.), Tidey, E.A. (Elizabeth A.), Craft, J. (Judith), Taylor, J. (John), Taylor, J.C. (Jenny C.), Goos, J.A.C. (Jacqueline), Swagemakers, S.M.A. (Sigrid), Mathijssen, I.M.J. (Irene), Spek, P.J. (Peter) van der, Lord, H. (Helen), Lester, K.J. (Kathryn), Abid, N. (Noina), Cilliers, D. (Deirdre), Hurst, J.A. (Jane), Morton, J. (Jenny), Sweeney, E. (Elizabeth), Weber, A. (Astrid), Wilson, L.C. (Louise), Wilkie, A.O.M. (Andrew)

المصدر: Journal of Medical Genetics vol. 54 no. 4, pp. 260-268

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/94544Test; urn:hdl:1765/94544

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104215Test
http://repub.eur.nl/pub/94544Test