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: 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, KR, 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, SM, 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

المصدر: Nature Communications , 12 (1) , Article 627. (2021) (In press).

مصطلحات موضوعية: Genetic association study, Medical genetics, Neurodevelopmental disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10121927/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf
https://discovery.ucl.ac.uk/id/eprint/10121927/

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: Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, 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, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K

المصدر: Nature, 29 October 2020

Relation: https://eprints.ncl.ac.uk/271300

الاتاحة: https://eprints.ncl.ac.uk/271300

المؤلفون: Keelagher, Rebecca Emily

Thesis Advisors: Borts, Rhona

مصطلحات موضوعية: 572.8

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.530632