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

O'Donnell-Luria, AH (author)

Pais, LS (author)

Faundes, V (author)

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Wood, JC (author)

Sveden, A (author)

Luria, V (author)

Abou Jamra, R (author)

Accogli, A (author)

Amburgey, K (author)

Anderlid, BM (author)

Karolinska Institutet

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)

Gill, H (author)

Goodship, J (author)

Goudie, D (author)

Gray, E (author)

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Greene, P (author)

Greenhalgh, L (author)

Gribble, S (author)

Harrison, R (author)

Harrison, L (author)

Harrison, V (author)

Hawkins, R (author)

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Hewitt, S (author)

Hildyard, L (author)

Hobson, E (author)

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Humphreys, M (author)

Hurst, J (author)

Hutton, B (author)

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Irving, M (author)

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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)

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McConnell, V (author)

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Mckay, K (author)

Mckee, S (author)

McMullan, DJ (author)

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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)

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Nevitt, L (author)

Newbury-Ecob, R (author)

Norman, A (author)

O'Shea, R (author)

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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)

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Randall, J (author)

Rankin, J (author)

Raymond, L (author)

Rice, D (author)

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Roberts, G (author)

Ross, A (author)

Rosser, E (author)

Saggar, A (author)

Samant, S (author)

Sampson, J (author)

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Sarkar, A (author)

Schweiger, S (author)

Scott, R (author)

Scurr, I (author)

Selby, A (author)

Seller, A (author)

Sequeira, C (author)

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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)

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Elsevier BV, 2019

2019

English.

In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222

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• Journal article (peer-reviewed)