المؤلفون: Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J.M., Fitzgerald, T.W., Kahlert, A.K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A.S., Benson, W.D., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P.E., Garg, V., Hackmann, K., Hoff, K., Hofmann, P., Dombrowsky, G., Pickardt, T., Bauer, U., Keavney, B.D., Klaassen, S., Kramer, H.H., Marshall, C.R., Milewicz, D.M., Lemaire, S., Coselli, J.S., Mitchell, M.E., Tomita-Mitchell, A., Prakash, S.K., Stamm, K., Stewart, A.F.R., Silversides, C.K., Siebert, R., Stiller, B., Rosenfeld, J.A., Vater, I., Postma, A.V., Caliebe, A., Brook, J.D., Andelfinger, G., Hurles, M.E., Thienpont, B., Larsen, L.A., Hitz, M.P.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Topic 3: Integrative Biomedicine

وصف الملف: other; application/pdf

العلاقة: http://edoc.mdc-berlin.de/20796/7/20796suppl.zipTest; http://edoc.mdc-berlin.de/20796/8/20796oa.pdfTest; Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. Audain, E. and Wilsdon, A. and Breckpot, J. and Izarzugaza, J.M. and Fitzgerald, T.W. and Kahlert, A.K. and Sifrim, A. and Wünnemann, F. and Perez-Riverol, Y. and Abdul-Khaliq, H. and Bak, M. and Bassett, A.S. and Benson, W.D. and Berger, F. and Daehnert, I. and Devriendt, K. and Dittrich, S. and Daubeney, P.E. and Garg, V. and Hackmann, K. and Hoff, K. and Hofmann, P. and Dombrowsky, G. and Pickardt, T. and Bauer, U. and Keavney, B.D. and Klaassen, S. and Kramer, H.H. and Marshall, C.R. and Milewicz, D.M. and Lemaire, S. and Coselli, J.S. and Mitchell, M.E. and Tomita-Mitchell, A. and Prakash, S.K. and Stamm, K. and Stewart, A.F.R. and Silversides, C.K. and Siebert, R. and Stiller, B. and Rosenfeld, J.A. and Vater, I. and Postma, A.V. and Caliebe, A. and Brook, J.D. and Andelfinger, G. and Hurles, M.E. and Thienpont, B. and Larsen, L.A. and Hitz, M.P. PLoS Genetics 17 (7): e1009679. 29 July 2021

الإتاحة: https://doi.org/10.1371/journal.pgen.1009679Test
http://edoc.mdc-berlin.de/20796Test/
https://edoc.mdc-berlin.de/20796Test/
http://edoc.mdc-berlin.de/20796/7/20796suppl.zipTest
http://edoc.mdc-berlin.de/20796/8/20796oa.pdfTest

المؤلفون: Wright, C.F., Quaife, N.M., Ramos-Hernández, L., Danecek, P., Ferla, M.P., Samocha, K.E., Kaplanis, J., Gardner, E.J., Eberhardt, R.Y., Chao, K.R., Karczewski, K.J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S.A., Morton, J.E.V., Pinz, H., Sansbury, F.H., Stewart, H., Zuccarelli, B.D., Genomics England Research Consortium, Cook, S.A., Taylor, J.C., Juusola, J., Retterer, K., Firth, H.V., Hurles, M.E., Lara-Pezzi, E., Barton, P.J.R., Whiffin, N.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/174965/3/MEF2Cmanuscript_AJHG_resub_March2021_clean_CW.pdfTest; Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

الإتاحة: https://eprints.whiterose.ac.uk/174965Test/
https://eprints.whiterose.ac.uk/174965/3/MEF2Cmanuscript_AJHG_resub_March2021_clean_CW.pdfTest

المؤلفون: Kaplanis, J., Samocha, K.E., Wiel, L., Zhang, Z., Arvai, K.J., Eberhardt, R.Y., Gallone, G., Lelieveld, S.H., Martin, H.C., McRae, J.F., Short, P.J., Torene, R.I., de Boer, E., Danecek, P., Gardner, E.J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M.R.F., Yeung, A., Yntema, H.G., Deciphering Developmental Disorders Study, Vissers, L.E.L.M., Juusola, J., Wright, C.F., Brunner, H.G., Firth, H.V., FitzPatrick, D.R., Barrett, J.C., Hurles, M.E., Gilissen, C., Retterer, K.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdfTest; Kaplanis, J., Samocha, K.E., Wiel, L. et al. (30 more authors) (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586 (7831). pp. 757-762. ISSN 0028-0836

الإتاحة: https://eprints.whiterose.ac.uk/167366Test/
https://eprints.whiterose.ac.uk/167366/8/797787v3.full.pdfTest

المؤلفون: Mone, F., Eberhardt, R., Morris, R.K., Hurles, M.E., McMullan, D.J., Maher, E.R., Lord, J., Chitty, L.S., Giordano, J., Wapner, R.J., Kilby, M.D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 56, issue S1, page 34-34 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.22284Test

المؤلفون: Mone, F., Stott, B., Hamilton, S., Seale, A.N., Quinlan‐Jones, E., Allen, S., Hurles, M.E., McMullan, D.J., Maher, E.R., Kilby, M.D.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 56, issue S1, page 194-194 ; ISSN 0960-7692 1469-0705

الإتاحة: https://doi.org/10.1002/uog.22827Test

المؤلفون: Levitin, M.O., Rawlins, L.E., Sanchez-Andrade, G., Arshad, O.A., Collins, S.C., Sawiak, S.J., Iffland, P.H. .I.I., Andersson, M.H.L., Bupp, C., Cambridge, E.L., Coomber, E.L., Ellis, I., Herkert, J.C., Ironfield, H., Jory, L., Kretz, P.F., Kant, S.G., Neaverson, A., Nibbeling, E., Rowley, C., Relton, E., Sanderson, M., Scott, E.M., Stewart, H., Shuen, A.Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., Ravenswaaij-Arts, C. van, Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C.J., Crino, P.B., Yalcin, B., Crosby, A.H., Baple, E.L., Logan, D.W., Hurles, M.E., Gerety, S.S.

المصدر: Brain

مصطلحات موضوعية: mTOR, neurodevelopmental disorders, recessive, animal model, iPSC, macrocephaly

وصف الملف: application/pdf

العلاقة: https://academic.oup.com/brain/article/146/11/4766/7223452Test; lumc-id: 185295638; https://hdl.handle.net/1887/3731602Test

الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://hdl.handle.net/1887/3731602Test
https://academic.oup.com/brain/article/146/11/4766/7223452Test

المؤلفون: Haworth, S., Shapland, C.Y., Hayward, C. (Caroline), Prins, B.P. (Bram), Felix, J.F. (Janine), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Wang, C., Ahluwalia, TS, Vrijheid, M. (Martine), Guxens Junyent, M. (Mònica), Sunyer, J. (Jordi), Tachmazidou, I, Walter, K., Iotchkova, V, Jackson, A.U. (Anne), Cleal, L., Huffmann, J., Min, J. (Josine), Sass, L., Timmers, P, Al Turki, S., Anderson, CA, Anney, R. (Richard), Antony, D, Soler Artigas, M. (Maria), Ayub, M, Bala, S, Barrett, JC, Barroso, I.E. (Inês), Beales, P., Bentham, J, Bhattacharya, S. (Shoumo), Birney, E. (Ewan), Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G. (Gerome), Calissano, M, Carss, K, Charlton, R, Chatterjee, K. (Krishna), Chen, L. (Leslie), Ciampi, A. (Antonio), Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D.A. (David), Cosgrove, C, Cox, T. (Tessa), Craddock, N.J. (Nick), Crooks, L, Curran, S, Curtis, D. (David), Daly, A, Danecek, P, Day, I.N.M. (Ian), Day-Williams, A, Dominiczak, A. (Anna), Down, T, Li, Y. (Yingrui), Dunham, D.M. (David), Durbin, R, Edkins, T. (Ted), Ekong, R. (Rosemary), Ellis, P. (Paul), Evans, D.M. (David), Farooqi, I.S. (Sadaf), Fitzpatrick, D.R. (David), Flicek, P, Floyd, J. (Jamie), Foley, AR, Franklin, C.S. (Christopher), Futema, M, Gallagher, L. (Louise), Gaunt, T.R. (Tom), Geihs, M, Geschwind, D., Greenwood, J.P. (John), Griffin, H, Grozeva, D. (Detelina), Guo, X.S., Guo, X. (Xiuqing), Gurling, H. (Hugh), Hart, D.J. (Deborah), Hendricks, AE, Holmans, P.A. (Peter), Howie, B, Huang, J. (Jian), Huang, L.R., Hubbard, T., Humphries, S.E. (Steve), Hurles, M.E. (Matthew), Hysi, P.G. (Pirro), Jackson, DK, Jamshidi, Y. (Yalda), Joyce, C, Karczewski, KJ, Kaye, J. (Jane), Keane, T, Kemp, J.P., Kennedy, K. (Karen), Kent, A. (Alistair), Keogh, J, Khawaja, F, van Kogelenberg, M., Kolb-Kokocinski, A, Lachance, G, Langford, C. (Cordelia), Lawson, D, Lee, I. van der, Lek, M, Li, R. (Rui), Li, Y.R. (Yun), Liang, J.Q., Lin, H., Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M., MacArthur, DG, Mangino, M. (Massimo), Marchini, J. (Jonathan), Marenne, G., Maslen, J., Mathieson, I. (Iain), McCarthy, S. (Sean), Mcguffin, P. (Peter), Mcintosh, A.M. (Andrew), McKechanie, AG, McQuillin, A. (Andrew), Memari, Y, Metrustry, S. (Sarah), Migone, N, Mitchison, H.M. (Hannah), Moayyeri, A. (Alireza), Morris, A.D. (Andrew), Morris, J, Muddyman, D, Muntoni, F., Northstone, K. (Kate), O'Donovan, M. (Michael), O'Rahilly, S. (Stephen), Onoufriadis, A, Oualkacha, K., Owen, M.J., Palotie, A. (Aarno), Panoutsopoulou, K, Parker, V., Parr, D., Paternoster, L. (Lavinia), Paunio, T, Payne, F. (Felicity), Payne, SJ, Perry, J.B. (John), Pietiläinen, O.P.H. (Olli), Plagnol, V, Pollitt, RC, Porteous, D.J. (David J.), Povey, S. (Sue), Quail, MA, Quaye, L. (Lydia), Raymond, FL, Rehnström, K. (Karola), Richards, J.B. (Brent), Ridout, CK, Ring, S.M. (Susan), Ritchie, GRS, Roberts, N. (Nicola), Robinson, RL, Savage, D.B. (David), Scambler, P., Schiffels, S, Schmidts, M, Schoenmakers, N. (Nadia), Scott, RH, Semple, R.K. (Robert), Serra, E, Sharp, S.I., Shaw, A. (Alison), Shihab, HA, Shin, S.-Y., Skuse, D, Small, K.S. (Kerrin), Smee, C, Smith, B.H. (Blair), Soranzo, N. (Nicole), Southam, L. (Lorraine), Spasic-Boskovic, O, Spector, T.D. (Timothy), St. Clair, D. (David), Stalker, J, Stevens, E, Sun, J.P., Surdulescu, G, Suvisaari, J. (Jaana), Syrris, P, R. Taylor (Rohan), Tian, J., Tobin, M.D. (Martin), Valdes, A.M. (Ana Maria), Vandersteen, AM, Vijayarangakannan, P, Visscher, P.M. (Peter), Wain, L.V. (Louise), Walters, JTR, Wang, G. B., Wang, J. (Jinxia), Wang, Y. (Ying), Ward, K, Wheeler, E. (Eleanor), Whyte, T, Williams, HJ, Williamson, K.A., Wilson, C, Wilson, S.G. (Scott), Wong, K. (Kenny), Xu, CJ, Yang, J. (Jian), Zhang, F. (Feng), Zhang, P.B., Zheng, H.-F. (Hou-Feng), Smith, A.V. (Davey), Fisher, SE, Wilson, J.F. (James F), Cole, T.J. (T.), Fernandez-Orth, D., Bønnelykke, K. (Klaus), Bisgaard, H. (Hans), Pennell, C.E. (Craig), Jaddoe, V.W.V. (Vincent), Dedoussis, G, Timpson, N.J. (Nicholas), Zeggini, E. (Eleftheria), Vitart, V. (Veronique), Pourcain, B.S. (Beate)

المصدر: Nature Communications vol. 10

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/114894Test; urn:hdl:1765/114894

الإتاحة: https://doi.org/10.1038/s41467-018-07863-xTest
http://repub.eur.nl/pub/114894Test

المؤلفون: Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R., Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Barelle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, P.M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L. Gomes, Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Proctor, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E.

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/211991/1/211991.pdfTest; Aitken, S. et al. (2019) Finding diagnostically useful patterns in quantitative phenotypic data. American Journal of Human Genetics , 105(5), pp. 933-946. (doi:10.1016/j.ajhg.2019.09.015 ) (PMID:31607427)

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.09.015Test
http://eprints.gla.ac.uk/211991Test/
http://eprints.gla.ac.uk/211991/1/211991.pdfTest

المؤلفون: Beal, M.A. (Marc A.), Meier, M.J. (Matthew J.), Williams, A. (Andrew), Rowan-Carroll, A. (Andrea), Gagné, R. (Rémi), Lindsay, S.J. (Sarah J.), Fitzgerald, T. (Tomas), Hurles, M.E. (Matthew E.), Marchetti, F. (Francesco), Yauk, C.L. (Carole L.)

المصدر: Communications Biology vol. 2 no. 1

وصف الملف: application/pdf

العلاقة: https://ir.library.carleton.ca/pub/25109Test

الإتاحة: https://doi.org/10.1038/s42003-019-0476-5Test
https://ir.library.carleton.ca/pub/25109Test

المؤلفون: Audain, E., Wilsdon, A., Breckpot, J., Izarzugaza, J.M.G., Fitzgerald, T.W., Kahlert, A.K., Sifrim, A., Wünnemann, F., Perez-Riverol, Y., Abdul-Khaliq, H., Bak, M., Bassett, A.S., Belmont, J.W., Benson, D.W., Berger, F., Daehnert, I., Devriendt, K., Dittrich, S., Daubeney, P., Garg, V., Hackmann, K., Hoff, K., Hofmann, P., Dombrowsky, G., Pickardt, T., Bauer, U., Keavney, B.D., Klaassen, S., Kramer, H.H., Marshall, C.R., Milewicz, D.M., Lemaire, S.A., Coselli, J., Mitchell, M.E., Tomita-Mitchell, A., Prakash, S.K., Stamm, K., Stewart, A.F.R., Silversides, C.K., Siebert, R., Stiller, B., Rosenfeld, J.A., Vater, I., Postma, A.V., Caliebe, A., Brook, J.D., Andelfinger, G., Hurles, M.E., Thienpont, B., Larsen, L.A., Hitz, M.P.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/19088/1/19088oa.pdfTest; http://edoc.mdc-berlin.de/19088/7/19088suppl.zipTest; Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. Audain, E. and Wilsdon, A. and Breckpot, J. and Izarzugaza, J.M.G. and Fitzgerald, T.W. and Kahlert, A.K. and Sifrim, A. and Wünnemann, F. and Perez-Riverol, Y. and Abdul-Khaliq, H. and Bak, M. and Bassett, A.S. and Belmont, J.W. and Benson, D.W. and Berger, F. and Daehnert, I. and Devriendt, K. and Dittrich, S. and Daubeney, P. and Garg, V. and Hackmann, K. and Hoff, K. and Hofmann, P. and Dombrowsky, G. and Pickardt, T. and Bauer, U. and Keavney, B.D. and Klaassen, S. and Kramer, H.H. and Marshall, C.R. and Milewicz, D.M. and Lemaire, S.A. and Coselli, J. and Mitchell, M.E. and Tomita-Mitchell, A. and Prakash, S.K. and Stamm, K. and Stewart, A.F.R. and Silversides, C.K. and Siebert, R. and Stiller, B. and Rosenfeld, J.A. and Vater, I. and Postma, A.V. and Caliebe, A. and Brook, J.D. and Andelfinger, G. and Hurles, M.E. and Thienpont, B. and Larsen, L.A. and Hitz, M.P. bioRxiv : 2020.06.25.169573. 25 June 2020

الإتاحة: https://doi.org/10.1101/2020.06.25.169573Test
http://edoc.mdc-berlin.de/19088Test/
https://edoc.mdc-berlin.de/19088Test/
http://edoc.mdc-berlin.de/19088/1/19088oa.pdfTest
http://edoc.mdc-berlin.de/19088/7/19088suppl.zipTest