المؤلفون: Tvergaard, NK, Tkemaladze, T, Stodberg, T, Kvarnung, M, Tatton-Brown, K, Baralle, D, Tumer, Z, Bayat, A

المصدر: Clinical genetics. 106(4):427-436

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:158644078

المؤلفون: Stenzinger, A, Moltzen, EK, Winkler, E, Molnar-Gabor, F, Malek, N, Costescu, A, Jensen, BN, Nowak, F, Pinto, C, Ottersen, OP, Schirmacher, P, Nordborg, J, Seufferlein, T, Frohling, S, Edsjo, A, Garcia-Foncillas, J, Normanno, N, Lundgren, B, Friedman, M, Bolanos, N, Tatton-Brown, K, Hill, S, Rosenquist, R

المصدر: Journal of internal medicine. 294(4):437-454

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:153285277

المؤلفون: Mattison, KA, Tossing, G, Mulroe, F, Simmons, C, Butler, KM, Schreiber, A, Alsadah, A, Neilson, DE, Naess, K, Wedell, A, Wredenberg, A, Sorlin, A, McCann, E, Burghel, GJ, Menendez, B, Hoganson, GE, Botto, LD, Filloux, FM, Aledo-Serrano, A, Gil-Nagel, A, Tatton-Brown, K, Verbeek, NE, van der Zwaag, B, Aleck, KA, Fazenbaker, AC, Balciuniene, J, Dubbs, HA, Marsh, ED, Garber, K, Ek, J, Duno, M, Hoei-Hansen, CE, Deardorff, MA, Raca, G, Quindipan, C, van Hirtum-Das, M, Breckpot, J, Hammer, TB, Moller, RS, Whitney, A, Douglas, AGL, Kharbanda, M, Brunetti-Pierri, N, Morleo, M, Nigro, V, May, HJ, Tao, JX, Argilli, E, Sherr, EH, Dobyns, WB, Baines, RA, Warwicker, J, Parker, JA, Banka, S, Campeau, PM, Escayg, A

المصدر: Brain : a journal of neurology. 146(4):1357-1372

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151938915

المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Frost, A, Kelly, A, Bishop, M, Bogue, D, Copson, E, Gompertz, L, Hay, E, Hayward, J, Hendriks, E, McVeigh, T, Simpson, S, Tatton-Brown, K

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/116991/1/Genotes%20-%20a%20just-in-time%20genomics%20education%20resource%20co-designed%20with%20clinicians.pdf; Frost, A; Kelly, A; Bishop, M; Bogue, D; Copson, E; Gompertz, L; Hay, E; Hayward, J; Hendriks, E; McVeigh, T; et al. Frost, A; Kelly, A; Bishop, M; Bogue, D; Copson, E; Gompertz, L; Hay, E; Hayward, J; Hendriks, E; McVeigh, T; Simpson, S; Tatton-Brown, K (2024) Genotes - a 'just-in-time' genomics education resource co-designed with clinicians. BMC Med Educ, 24 (1). p. 1378. ISSN 1472-6920 https://doi.org/10.1186/s12909-024-06059-w SGUL Authors: Hayward, Judith

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116991/
https://doi.org/10.1186/s12909-024-06059-w

المؤلفون: Coad, B, Joekes, K, Rudnicka, A, Frost, A, Tatton-Brown, K, Snape, K

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/115908/1/Journal%20of%20Genetic%20Counseling%20-%202023%20-%20Coad%20-%20Massive%20open%20online%20courses%20%20MOOCs%20%20in%20genomic%20variant%20interpretation%20%20An.pdf; https://openaccess.sgul.ac.uk/id/eprint/115908/6/jgc41837-sup-0001-supinfo01.pdf; https://openaccess.sgul.ac.uk/id/eprint/115908/12/jgc41837-sup-0002-supinfo02.pdf; Coad, B; Joekes, K; Rudnicka, A; Frost, A; Tatton-Brown, K; Snape, K (2024) Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce. J Genet Couns, 33 (1). pp. 142-150. ISSN 1573-3599 https://doi.org/10.1002/jgc4.1837 SGUL Authors: Coad, Elizabeth Susan

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115908/
https://openaccess.sgul.ac.uk/id/eprint/115908/1/Journal%20of%20Genetic%20Counseling%20-%202023%20-%20Coad%20-%20Massive%20open%20online%20courses%20%20MOOCs%20%20in%20genomic%20variant%20interpretation%20%20An.pdf
https://openaccess.sgul.ac.uk/id/eprint/115908/6/jgc41837-sup-0001-supinfo01.pdf
https://openaccess.sgul.ac.uk/id/eprint/115908/12/jgc41837-sup-0002-supinfo02.pdf
https://doi.org/10.1002/jgc4.1837

المؤلفون: Coad, B, Joekes, K, Rudnicka, A, Frost, A, Openshaw, MR, Tatton-Brown, K, Snape, K

وصف الملف: application/pdf; application/msword

Relation: https://openaccess.sgul.ac.uk/id/eprint/115587/1/s12909-023-04406-x.pdf; https://openaccess.sgul.ac.uk/id/eprint/115587/6/12909_2023_4406_MOESM1_ESM.doc; Coad, B; Joekes, K; Rudnicka, A; Frost, A; Openshaw, MR; Tatton-Brown, K; Snape, K (2023) Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce. BMC Med Educ, 23 (1). p. 540. ISSN 1472-6920 https://doi.org/10.1186/s12909-023-04406-x SGUL Authors: Coad, Elizabeth Susan

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115587/
https://openaccess.sgul.ac.uk/id/eprint/115587/1/s12909-023-04406-x.pdf
https://openaccess.sgul.ac.uk/id/eprint/115587/6/12909_2023_4406_MOESM1_ESM.doc
https://doi.org/10.1186/s12909-023-04406-x

المؤلفون: Garrett, A, Loveday, C, King, L, Butler, S, Robinson, R, Horton, C, Yussuf, A, Choi, S, Torr, B, Durkie, M, Burghel, GJ, Drummond, J, Berry, I, Wallace, A, Callaway, A, Eccles, D, Tischkowitz, M, Tatton-Brown, K, Snape, K, McVeigh, T, Izatt, L, Woodward, ER, Burnichon, N, Gimenez-Roqueplo, A-P, Mazzarotto, F, Whiffin, N, Ware, J, Hanson, H, Pesaran, T, LaDuca, H, Buffet, A, Maher, ER, Turnbull, C, Cancer Variant Interpretation Group UK (CanVIG-UK)

وصف الملف: application/pdf; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsx; Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; et al. Garrett, A; Loveday, C; King, L; Butler, S; Robinson, R; Horton, C; Yussuf, A; Choi, S; Torr, B; Durkie, M; Burghel, GJ; Drummond, J; Berry, I; Wallace, A; Callaway, A; Eccles, D; Tischkowitz, M; Tatton-Brown, K; Snape, K; McVeigh, T; Izatt, L; Woodward, ER; Burnichon, N; Gimenez-Roqueplo, A-P; Mazzarotto, F; Whiffin, N; Ware, J; Hanson, H; Pesaran, T; LaDuca, H; Buffet, A; Maher, ER; Turnbull, C; Cancer Variant Interpretation Group UK (CanVIG-UK) (2022) Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med, 24 (1). pp. 41-50. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2021.08.004 SGUL Authors: Snape, Katie Mairwen Greenwood

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113968/
https://openaccess.sgul.ac.uk/id/eprint/113968/1/1-s2.0-S1098360021011187-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/113968/7/1-s2.0-S1098360021011187-mmc1.xlsx
https://doi.org/10.1016/j.gim.2021.08.004

المؤلفون: Huang, Y., Chen, C., Sundaramurthy, V., Słabicki, M., Hao, D., Watson, C., Tovy, A., Reyes, J., Dakhova, O., Crovetti, B., Galonska, C., Lee, M., Brunetti, L., Zhou, Y., Tatton-Brown, K., Cheng, X., Meissner, A., Valk, P., Van Maldergem, L., Sanders, M., Blundell, J., Li, W., Ebert, B., Goodell, M.

المصدر: Cancer Discovery

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34429321; http://hdl.handle.net/21.11116/0000-0009-23BE-A; http://hdl.handle.net/21.11116/0000-0009-23C0-6

الاتاحة: http://hdl.handle.net/21.11116/0000-0009-23BE-A
http://hdl.handle.net/21.11116/0000-0009-23C0-6

المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273115; https://eprints.ncl.ac.uk/fulltext.aspx?url=273115/A1C8A8B2-06CC-4C57-9D5D-5E2806D970F9.pdf&pub_id=273115

الاتاحة: https://eprints.ncl.ac.uk/273115

المؤلفون: Poole, RL, Curry, PDK, Marcinkute, R, Brewer, C, Coman, D, Hobson, E, Johnson, D, Lynch, SA, Saggar, A, Searle, C, Scurr, I, Turnpenny, PD, Vasudevan, P, Tatton-Brown, K

مصطلحات موضوعية: Genetics, Clinical sciences

Relation: American Journal of Medical Genetics, Part A; Poole, RL; Curry, PDK; Marcinkute, R; Brewer, C; Coman, D; Hobson, E; Johnson, D; Lynch, SA; Saggar, A; Searle, C; Scurr, I; Turnpenny, PD; Vasudevan, P; Tatton-Brown, K, Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant, American Journal of Medical Genetics, Part A, 2021; http://hdl.handle.net/10072/405785

الاتاحة: http://hdl.handle.net/10072/405785
https://doi.org/10.1002/ajmg.a.62350

المؤلفون: Choufani S., Gibson W. T., Turinsky A. L., Chung B. H. Y., Wang T., Garg K., Vitriolo A., Cohen A. S. A., Cyrus S., Goodman S., Chater-Diehl E., Brzezinski J., Brudno M., Ming L. H., White S. M., Lynch S. A., Clericuzio C., Temple I. K., Flinter F., McConnell V., Cushing T., Bird L. M., Splitt M., Kerr B., Scherer S. W., Machado J., Imagawa E., Okamoto N., Matsumoto N., Testa G., Iascone M., Tenconi R., Caluseriu O., Mendoza-Londono R., Chitayat D., Cytrynbaum C., Tatton-Brown K., Weksberg R.

المساهمون: S. Choufani, W.T. Gibson, A.L. Turinsky, B.H.Y. Chung, T. Wang, K. Garg, A. Vitriolo, A.S.A. Cohen, S. Cyru, S. Goodman, E. Chater-Diehl, J. Brzezinski, M. Brudno, L.H. Ming, S.M. White, S.A. Lynch, C. Clericuzio, I.K. Temple, F. Flinter, V. Mcconnell, T. Cushing, L.M. Bird, M. Splitt, B. Kerr, S.W. Scherer, J. Machado, E. Imagawa, N. Okamoto, N. Matsumoto, G. Testa, M. Iascone, R. Tenconi, O. Caluseriu, R. Mendoza-Londono, D. Chitayat, C. Cytrynbaum, K. Tatton-Brown, R. Weksberg

مصطلحات موضوعية: DNA methylation signature, EED, intellectual disability, overgrowth syndrome, SUZ12, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Cohort Studie, Congenital Hypothyroidism, Craniofacial Abnormalitie, Enhancer of Zeste Homolog 2 Protein, Female, Hand Deformities, Congenital, Human, Infant, Male, Mosaicism, Mutation, Missense, Polycomb Repressive Complex 2, Reproducibility of Result, Young Adult, DNA Methylation, Settore BIO/11 - Biologia Molecolare, Settore BIO/18 - Genetica

Relation: info:eu-repo/semantics/altIdentifier/pmid/32243864; info:eu-repo/semantics/altIdentifier/wos/WOS:000531096100002; volume:106; issue:5; firstpage:596; lastpage:610; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/801637; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084134777

الاتاحة: http://hdl.handle.net/2434/801637
https://doi.org/10.1016/j.ajhg.2020.03.008

المؤلفون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Piening, S.

المصدر: Mulder , P A , van Balkom , I D C , Landlust , A M , Priolo , M , Menke , L A , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , Gonzalez , N G , Huber , I , Iascone , M , Kaiser , ....

مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/c823bd39-7c28-4564-aa84-37dc5e33eac4
https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4
https://doi.org/10.1111/jir.12787
https://pure.rug.nl/ws/files/169311508/jir.12787.pdf

المؤلفون: Choufani, S, Gibson, WT, Turinsky, AL, Chung, BHY, Wang, T, Garg, K, Vitriolo, A, Cohen, ASA, Cyrus, S, Goodman, S, Chater-Diehl, E, Brzezinski, J, Brudno, M, Ming, LH, White, SM, Lynch, SA, Clericuzio, C, Temple, IK, Flinter, F, McConnell, V, Cushing, T, Bird, LM, Splitt, M, Kerr, B, Scherer, SW, Machado, J, Imagawa, E, Okamoto, N, Matsumoto, N, Testa, G, Iascone, M, Tenconi, R, Caluseriu, O, Mendoza-Londono, R, Chitayat, D, Cytrynbaum, C, Tatton-Brown, K, Weksberg, R

Relation: pii: S0002-9297(20)30084-7; Choufani, S., Gibson, W. T., Turinsky, A. L., Chung, B. H. Y., Wang, T., Garg, K., Vitriolo, A., Cohen, A. S. A., Cyrus, S., Goodman, S., Chater-Diehl, E., Brzezinski, J., Brudno, M., Ming, L. H., White, S. M., Lynch, S. A., Clericuzio, C., Temple, I. K., Flinter, F. ,. Weksberg, R. (2020). DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (5), pp.596-610. https://doi.org/10.1016/j.ajhg.2020.03.008.; http://hdl.handle.net/11343/251459

الاتاحة: http://hdl.handle.net/11343/251459

المؤلفون: Domingo, D, Nawaz, U, Corbett, M, Espinoza, JL, Tatton-Brown, K, Coman, D, Wilkinson, MF, Gecz, J, Jolly, LA

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences

Relation: Human Molecular Genetics; Domingo, D; Nawaz, U; Corbett, M; Espinoza, JL; Tatton-Brown, K; Coman, D; Wilkinson, MF; Gecz, J; Jolly, LA, A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks, Human Molecular Genetics, 2020, 29 (15), pp. 2568-2578; http://hdl.handle.net/10072/401494

الاتاحة: http://hdl.handle.net/10072/401494
https://doi.org/10.1093/hmg/ddaa151

المؤلفون: Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Nemeth AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR, Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, 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 AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro PM, 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 SLG, 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, Kaemba B, Kazembe S, Kerr B, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McMullan DJ, 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, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, 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, 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, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, 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 NP, Parker M, Barrett JC

المصدر: American Journal of Human Genetics, 7 November 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261535; https://eprints.ncl.ac.uk/fulltext.aspx?url=261535/5CC6CD84-D300-4747-8732-1CB46ED4463B.pdf&pub_id=261535

الاتاحة: https://eprints.ncl.ac.uk/261535

المؤلفون: Jeffries, AR, Maroofian, R, Salter, CG, Chioza, BA, Cross, HE, Patton, MA, Dempster, E, Karen Temple, I, Mackay, D, Rezwan, FI, Aksglæde, L, Baralle, D, Dabir, T, Hunter, MF, Kamath, A, Kumar, A, Newbury-Ecob, R, Selicorni, A, Springer, A, van Maldergem, L, Varghese, V, Yachelevich, N, Tatton Brown, K, Mill, J, Crosby, AH, Baple, EL

Relation: https://www.ncbi.nlm.nih.gov/pubmed/31160375; Published online 3-June-2019; Ref: SG/16-17/02; G1001931; G1002279; MR/ M008924/1; MR/K013807/1; gr.243584.118; http://hdl.handle.net/10871/37917; Genome Research

الاتاحة: http://hdl.handle.net/10871/37917
https://doi.org/10.1101/gr.243584.118

المؤلفون: Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, Study, The DDD, Blair, E, Stewart, H

Relation: https://ora.ox.ac.uk/objects/uuid:753607c9-cf5e-4536-b596-75b5e28310ae; https://doi.org/10.1111/cge.13533

الاتاحة: https://doi.org/10.1111/cge.13533
https://ora.ox.ac.uk/objects/uuid:753607c9-cf5e-4536-b596-75b5e28310ae

المؤلفون: Cleaver, RJ, Berg, J, Craft, E, Foster, A, Gibbons, RJ, Hobson, E, Lachlan, K, Naik, S, Sampson, JR, Sharif, S, Smithson, S, Study,, Deciphering Developmental Disorders, Parker, MJ, Tatton-Brown, K

Relation: https://ora.ox.ac.uk/objects/uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2; https://doi.org/10.1002/ajmg.a.61024

الاتاحة: https://doi.org/10.1002/ajmg.a.61024
https://ora.ox.ac.uk/objects/uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2

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

Relation: http://eprints.gla.ac.uk/211991/1/211991.pdf; 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)

الاتاحة: http://eprints.gla.ac.uk/211991/
http://eprints.gla.ac.uk/211991/1/211991.pdf