Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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O'Donnell-Luria, AH (author)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Article/chapterEnglish2019

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Elsevier BV,2019

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:141067079
http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079URI
https://doi.org/10.1016/j.ajhg.2019.03.021DOI

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Language:English

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

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In:American journal of human genetics: Elsevier BV104:6, s. 1210-12221537-66050002-9297

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By the author/editor: O'Donnell-Luria, ...; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; show more...; Abou Jamra, R; Accogli, A; Amburgey, K; Anderlid, BM; Azzarello-Burri, ...; 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 ...; 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, ...; van Koningsbrugg ...; 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, ...; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz ...; 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; Vijayarangakanna ...; 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; show less...

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