المؤلفون: Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF

المصدر: Genetics in Medicine Open, January 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303312; https://eprints.ncl.ac.uk/fulltext.aspx?url=303312/FE4F66C2-D76C-488E-855C-FE47F8F29DD3.pdf&pub_id=303312

الاتاحة: https://eprints.ncl.ac.uk/303312

المؤلفون: Copeland, H., Low, K.J., Wynn, S.L., Ahmed, A., Arthur, V., Balasubramanian, M., Bennett, K., Berg, J., Bertoli, M., Bryson, L., Bucknall, C., Campbell, J., Chandler, K., Chauhan, J., Clarkson, A., Coles, R., Conti, H., Costello, P., Coupar, T., Craig, A., Dean, J., Dillon, A., Dixit, A., Drew, K., Eason, J., Forzano, F., Foulds, N., Gardham, A., Ghali, N., Green, A., Hanna, W., Harrison, R., Hegarty, M., Higgs, J., Holder, M., Irving, R., Jain, V., Johnson, K., Jolley, R., Jones, W.D., Jones, G., Joss, S., Kalinauskiene, R., Kanani, F., Kavanagh, K., Khan, M., Khan, N., Kivuva, E., Lahiri, N., Lakhani, N., Lampe, A., Lynch, S.A., Mansour, S., Marsden, A., Massey, H., McKee, S., Mohammed, S., Naik, S., Nesarajah, M., Newbury-Ecob, R., Osborne, F., Parker, M.J., Patterson, J., Pottinger, C., Prapa, M., Prescott, K., Quinn, S., Radley, J.A., Robart, S., Ross, A., Rosti, G., Sansbury, F.H., Sarkar, A., Searle, C., Shannon, N., Shears, D., Smithson, S., Stewart, H., Suri, M., Tadros, S., Theobald, R., Thomas, R., Tsoulaki, O., Vasudevan, P., Rodriguez, M.V., Vittery, E., Whyte, S., Woods, E., Wright, T., Zocche, D., Firth, H.V., Wright, C.F.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/219432/2/PIIS2949774424010100.pdf; Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open. 101864. ISSN 2949-7744

الاتاحة: https://eprints.whiterose.ac.uk/219432/
https://eprints.whiterose.ac.uk/219432/2/PIIS2949774424010100.pdf
https://doi.org/10.1016/j.gimo.2024.101864

المؤلفون: Copeland, H., Low, K.J., Wynn, S., Ahmed, A., Arthur, V., Balasubramanian, M., Bennett, K., Berg, J., Bertoli, M., Bryson, L., Bucknall, C., Campbell, J., Chandler, K., Chauhan, J., Clarkson, A., Coles, R., Conti, H., Costello, P., Coupar, T., Craig, A., Dean, J., Dillon, A., Dixit, A., Drew, K., Eason, J., Forzano, F., Foulds, N., Gardham, A., Ghali, N., Green, A., Hanna, W., Harrison, R., Hegarty, M., Higgs, J., Holder, M., Irving, R., Jain, V., Johnson, K., Jolley, R., Jones, W., Jones, G., Joss, S., Kalinauskiene, R., Kanini, F., Kavanagh, K., Khan, M., Khan, N., Kivuva, E., Lahiri, N., Lakhani, N., Lampe, A., Lynch, S.A., Mansour, S., Marsden, A., Massey, H., McKee, S., Mohammed, S., Naik, S., Nesarajah, M., Newbury-Ecob, R., Osborne, F., Parker, M.J., Patterson, J., Pottinger, C., Prapa, M., Prescott, K., Quinn, S., Radley, J.A., Robart, S., Ross, A., Rosti, G., Sansbury, F., Sarkar, A., Searle, C., Shannon, N., Shears, D., Smithson, S., Stewart, H., Suri, M., Tadros, S., Theobald, R., Thomas, R., Tsoulaki, O., Vasudevan, P., Verdesoto, M., Vittery, E., Whyte, S., Woods, E., Wright, T., Zocche, D., Firth, H.V., Wright, C.F.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdf; Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (Submitted: 2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint - medRxiv] (Submitted)

الاتاحة: https://eprints.whiterose.ac.uk/208872/
https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdf
https://doi.org/10.1101/2023.10.18.23297202

المؤلفون: Martin-Almedina, S, Ogmen, K, Sackey, E, Grigoriadis, D, Karapouliou, C, Nadarajah, N, Ebbing, C, Lord, J, Mellis, R, Kortuem, F, Dinulos, MB, Polun, C, Bale, S, Atton, G, Robinson, A, Reigstad, H, Houge, G, von der Wense, A, Becker, W-H, Jeffery, S, Mortimer, PS, Gordon, K, Josephs, KS, Robart, S, Kilby, MD, Vallee, S, Gorski, JL, Hempel, M, Berland, S, Mansour, S, Ostergaard, P

المصدر: Genetics in Medicine (2021) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10126941/1/s41436-021-01136-7.pdf; https://discovery.ucl.ac.uk/id/eprint/10126941/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10126941/1/s41436-021-01136-7.pdf
https://discovery.ucl.ac.uk/id/eprint/10126941/

المؤلفون: Martin-Almedina, S, Ogmen, K, Sackey, E, Grigoriadis, D, Karapouliou, C, Nadarajah, N, Ebbing, C, Lord, J, Mellis, R, Kortuem, F, Dinulos, MB, Polun, C, Bale, S, Atton, G, Robinson, A, Reigstad, H, Houge, G, von der Wense, A, Becker, W-H, Jeffery, S, Mortimer, PS, Gordon, K, Josephs, KS, Robart, S, Kilby, MD, Vallee, S, Gorski, JL, Hempel, M, Berland, S, Mansour, S, Ostergaard, P

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

Relation: https://openaccess.sgul.ac.uk/id/eprint/112997/16/s41436-021-01136-7.pdf; https://openaccess.sgul.ac.uk/id/eprint/112997/25/41436_2021_1136_MOESM1_ESM.xlsx; https://openaccess.sgul.ac.uk/id/eprint/112997/1/Martin%20Almedina%20et%20al_GIM_2020_main%20manuscript.pdf; https://openaccess.sgul.ac.uk/id/eprint/112997/6/Martin%20Almedina%20et%20al_Supp_GIM_2020_clean%20version.pdf; Martin-Almedina, S; Ogmen, K; Sackey, E; Grigoriadis, D; Karapouliou, C; Nadarajah, N; Ebbing, C; Lord, J; Mellis, R; Kortuem, F; et al. Martin-Almedina, S; Ogmen, K; Sackey, E; Grigoriadis, D; Karapouliou, C; Nadarajah, N; Ebbing, C; Lord, J; Mellis, R; Kortuem, F; Dinulos, MB; Polun, C; Bale, S; Atton, G; Robinson, A; Reigstad, H; Houge, G; von der Wense, A; Becker, W-H; Jeffery, S; Mortimer, PS; Gordon, K; Josephs, KS; Robart, S; Kilby, MD; Vallee, S; Gorski, JL; Hempel, M; Berland, S; Mansour, S; Ostergaard, P (2021) Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. Genet Med, 23 (7). pp. 1315-1324. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01136-7 SGUL Authors: Martin Almedina, Silvia Sackey, Ege Gulce Jeffery, Stephen Mortimer, Peter Sydney Mansour, Sahar Ostergaard, Pia

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/112997/
https://openaccess.sgul.ac.uk/id/eprint/112997/16/s41436-021-01136-7.pdf
https://openaccess.sgul.ac.uk/id/eprint/112997/25/41436_2021_1136_MOESM1_ESM.xlsx
https://openaccess.sgul.ac.uk/id/eprint/112997/1/Martin%20Almedina%20et%20al_GIM_2020_main%20manuscript.pdf
https://openaccess.sgul.ac.uk/id/eprint/112997/6/Martin%20Almedina%20et%20al_Supp_GIM_2020_clean%20version.pdf

المؤلفون: Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Bateman M, Campbell C, Campbell J, Carey G, Cohen K, Collingwood E, Constantinou P, Delmege C, Ellis R, Evans J, Everett T, Pinto CF, Forrester N, Fowler E, Hamilton S, Healey K, Hudson R, Lewis R, Marton T, Mehta S, Park S-M, Rowland J, Steer J, Taylor EJ, Wilson E

المصدر: The Lancet, 23 February - 1 March 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/255527; https://eprints.ncl.ac.uk/fulltext.aspx?url=255527/CA73740A-7117-4AC6-A132-440C9B40C564.pdf&pub_id=255527

الاتاحة: https://eprints.ncl.ac.uk/255527

المؤلفون: Lord, J, McMullan, DJ, Eberhardt, RY, Rinck, G, Hamilton, SJ, Quinlan-Jones, E, Prigmore, E, Keelagher, R, Best, SK, Carey, GK, Mellis, R, Robart, S, Berry, IR, Chandler, KE, Cilliers, D, Cresswell, L, Edwards, SL, Gardiner, C, Henderson, A, Holden, ST, Homfray, T, Lester, T, Lewis, RA, Newbury-Ecob, R, Prescott, K, Quarrell, OW, Ramsden, SC, Roberts, E, Tapon, D, Tooley, MJ, Vasudevan, PC, Weber, AP, Wellesley, DG, Westwood, P, White, H, Parker, M, Williams, D, Jenkins, L, Scott, RH, Kilby, MD, Chitty, LS, Hurles, ME, Maher, ER

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf; Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736

الاتاحة: https://eprints.whiterose.ac.uk/157005/
https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf

المؤلفون: Lord J, Mcmullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER

المصدر: Obstetrical and Gynecological Survey, 1 July 2019

Relation: https://eprints.ncl.ac.uk/259063

الاتاحة: https://eprints.ncl.ac.uk/259063

المؤلفون: Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Bateman M, Campbell C, Campbell J, Carey G, Cohen K, Collingwood E, Constantinou P, Delmege C, Ellis R, Evans J, Everett T, Pinto CF, Forrester N, Fowler E, Hamilton S, Healey K, Hudson R, Lewis R, Marton T, Mehta S, Park S-M, Rowland J, Steer J, Taylor EJ, Wilson E

المصدر: The Lancet, 23 February - 1 March 2019

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=255527/CA73740A-7117-4AC6-A132-440C9B40C564.pdf&pub_id=255527

المؤلفون: Lord, J, McMullan, DJ, Eberhardt, RY, Rinck, G, Hamilton, SJ, Quinlan-Jones, E, Prigmore, E, Keelagher, R, Best, SK, Carey, GK, Mellis, R, Robart, S, Berry, IR, Chandler, KE, Cilliers, D, Cresswell, L, Edwards, SL, Gardiner, C, Henderson, A, Holden, ST, Homfray, T, Lester, T, Lewis, RA, Newbury-Ecob, R, Prescott, K, Quarrell, OW, Ramsden, SC, Roberts, E, Tapon, D, Tooley, MJ, Vasudevan, PC, Weber, AP, Wellesley, DG, Westwood, P, White, H, Parker, M, Williams, D, Jenkins, L, Scott, RH, Kilby, MD, Chitty, LS, Hurles, ME, Maher, ER

Relation: Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study. Obstetrical & Gynecological Survey, 74 (7). pp. 394-396. ISSN 0029-7828

الاتاحة: https://eprints.whiterose.ac.uk/157759/