-
1
-
-
59149096726
-
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
-
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009;41:160-162.
-
(2009)
Nat Genet
, vol.41
, pp. 160-162
-
-
Helbig, I.1
Mefford, H.C.2
Sharp, A.J.3
Guipponi, M.4
Fichera, M.5
Franke, A.6
Muhle, H.7
de Kovel, C.8
Baker, C.9
von Spiczak, S.10
Kron, K.L.11
Steinich, I.12
Kleefuss-Lie, A.A.13
Leu, C.14
Gaus, V.15
Schmitz, B.16
Klein, K.M.17
Reif, P.S.18
Rosenow, F.19
Weber, Y.20
Lerche, H.21
Zimprich, F.22
Urak, L.23
Fuchs, K.24
Feucht, M.25
Genton, P.26
Thomas, P.27
Visscher, F.28
de Haan, G.J.29
Møller, R.S.30
Hjalgrim, H.31
Luciano, D.32
Wittig, M.33
Nothnagel, M.34
Elger, C.E.35
Nürnberg, P.36
Romano, C.37
Malafosse, A.38
Koeleman, B.P.39
Lindhout, D.40
Stephani, U.41
Schreiber, S.42
Eichler, E.E.43
Sander, T.44
more..
-
2
-
-
70350774172
-
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
-
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance. Hum Mol Genet 2009;18:3626-3631.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3626-3631
-
-
Dibbens, L.M.1
Mullen, S.2
Helbig, I.3
Mefford, H.C.4
Bayly, M.A.5
Bellows, S.6
Leu, C.7
Trucks, H.8
Obermeier, T.9
Wittig, M.10
Franke, A.11
Caglayan, H.12
Yapici, Z.13
Sander, T.14
Eichler, E.E.15
Scheffer, I.E.16
Mulley, J.C.17
Berkovic, S.F.18
-
3
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Stone JL, O'Donovan MC, Gurling H, Kirov GK, Blackwood DH, Corvin A, Craddock NJ, Gill M, Hultman CM, Lichtenstein P, McQuillin A, Pato CN, Ruderfer DM, Owen MJ, St Clair D, Sullivan PF, Sklar P, Purcell SM, Korn J, Macgregor S, Morris DW, O'Dushlaine CT, Daly MJ, Visscher PM, Holmans PA, Scolnick EM, Williams NM, Georgieva L, Nikolov I, Norton N, Williams H, Toncheva D, Milanova V, Thelander EF, Sullivan P, Kenny E, Waddington JL, Choudhury K, Datta S, Pimm J, Thirumalai S, Puri V, Krasucki R, Lawrence J, Quested D, Bass N, Curtis D, Crombie C, Fraser G, Kwan SL, Walker N, Muir WJ, McGhee KA, Pickard B, Malloy P, Maclean AW, Van Beck M, Medeiros H, Middleton F, Carvalho C, Chambert K, Gates C; International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
Stone, J.L.1
O'Donovan, M.C.2
Gurling, H.3
Kirov, G.K.4
Blackwood, D.H.5
Corvin, A.6
Craddock, N.J.7
Gill, M.8
Hultman, C.M.9
Lichtenstein, P.10
McQuillin, A.11
Pato, C.N.12
Ruderfer, D.M.13
Owen, M.J.14
St Clair, D.15
Sullivan, P.F.16
Sklar, P.17
Purcell, S.M.18
Korn, J.19
Macgregor, S.20
Morris, D.W.21
O'Dushlaine, C.T.22
Daly, M.J.23
Visscher, P.M.24
Holmans, P.A.25
Scolnick, E.M.26
Williams, N.M.27
Georgieva, L.28
Nikolov, I.29
Norton, N.30
Williams, H.31
Toncheva, D.32
Milanova, V.33
Thelander, E.F.34
Sullivan, P.35
Kenny, E.36
Waddington, J.L.37
Choudhury, K.38
Datta, S.39
Pimm, J.40
Thirumalai, S.41
Puri, V.42
Krasucki, R.43
Lawrence, J.44
Quested, D.45
Bass, N.46
Curtis, D.47
Crombie, C.48
Fraser, G.49
Kwan, S.L.50
Walker, N.51
Muir, W.J.52
McGhee, K.A.53
Pickard, B.54
Malloy, P.55
Maclean, A.W.56
Van Beck, M.57
Medeiros, H.58
Middleton, F.59
Carvalho, C.60
Chambert, K.61
Gates, C.62
more..
-
4
-
-
67349176356
-
A 15q13.3 microdeletion segregating with autism
-
Pagnamenta AT, Wing K, Sadighi Akha E, Knight SJ, Bölte S, Schmötzer G, Duketis E, Poustka F, Klauck SM, Poustka A, Ragoussis J, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 2009;17:687-692.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 687-692
-
-
Pagnamenta, A.T.1
Wing, K.2
Sadighi Akha, E.3
Knight, S.J.4
Bölte, S.5
Schmötzer, G.6
Duketis, E.7
Poustka, F.8
Klauck, S.M.9
Poustka, A.10
Ragoussis, J.11
Bailey, A.J.12
Monaco, A.P.13
-
5
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322-328.
-
(2008)
Nat Genet
, vol.40
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
6
-
-
68049129849
-
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
-
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009;46:511-523.
-
(2009)
J Med Genet
, vol.46
, pp. 511-523
-
-
van Bon, B.W.1
Mefford, H.C.2
Menten, B.3
Koolen, D.A.4
Sharp, A.J.5
Nillesen, W.M.6
Innis, J.W.7
de Ravel, T.J.8
Mercer, C.L.9
Fichera, M.10
Stewart, H.11
Connell, L.E.12
Ounap, K.13
Lachlan, K.14
Castle, B.15
Van der Aa, N.16
van Ravenswaaij, C.17
Nobrega, M.A.18
Serra-Juhé, C.19
Simonic, I.20
de Leeuw, N.21
Pfundt, R.22
Bongers, E.M.23
Baker, C.24
Finnemore, P.25
Huang, S.26
Maloney, V.K.27
Crolla, J.A.28
van Kalmthout, M.29
Elia, M.30
Vandeweyer, G.31
Fryns, J.P.32
Janssens, S.33
Foulds, N.34
Reitano, S.35
Smith, K.36
Parkel, S.37
Loeys, B.38
Woods, C.G.39
Oostra, A.40
Speleman, F.41
Pereira, A.C.42
Kurg, A.43
Willatt, L.44
Knight, S.J.45
Vermeesch, J.R.46
Romano, C.47
Barber, J.C.48
Mortier, G.49
Pérez-Jurado, L.A.50
Kooy, F.51
Brunner, H.G.52
Eichler, E.E.53
Kleefstra, T.54
de Vries, B.B.55
more..
-
7
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010;133(pt 1):23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
de Kovel, C.G.1
Trucks, H.2
Helbig, I.3
Mefford, H.C.4
Baker, C.5
Leu, C.6
Kluck, C.7
Muhle, H.8
von Spiczak, S.9
Ostertag, P.10
Obermeier, T.11
Kleefuss-Lie, A.A.12
Hallmann, K.13
Steffens, M.14
Gaus, V.15
Klein, K.M.16
Hamer, H.M.17
Rosenow, F.18
Brilstra, E.H.19
Trenité, D.K.20
Swinkels, M.E.21
Weber, Y.G.22
Unterberger, I.23
Zimprich, F.24
Urak, L.25
Feucht, M.26
Fuchs, K.27
Møller, R.S.28
Hjalgrim, H.29
De Jonghe, P.30
Suls, A.31
Rückert, I.M.32
Wichmann, H.E.33
Franke, A.34
Schreiber, S.35
Nürnberg, P.36
Elger, C.E.37
Lerche, H.38
Stephani, U.39
Koeleman, B.P.40
Lindhout, D.41
Eichler, E.E.42
Sander, T.43
more..
-
8
-
-
84888253405
-
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
-
Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 2013;81:1507-1514.
-
(2013)
Neurology
, vol.81
, pp. 1507-1514
-
-
Mullen, S.A.1
Carvill, G.L.2
Bellows, S.3
Bayly, M.A.4
Trucks, H.5
Lal, D.6
Sander, T.7
Berkovic, S.F.8
Dibbens, L.M.9
Scheffer, I.E.10
Mefford, H.C.11
-
9
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciute D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010;86:707-718.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
Need, A.C.6
Walley, N.M.7
Nicoletti, P.8
Ge, D.9
Catarino, C.B.10
Duncan, J.S.11
Kasperaviciute, D.12
Tate, S.K.13
Caboclo, L.O.14
Sander, J.W.15
Clayton, L.16
Linney, K.N.17
Shianna, K.V.18
Gumbs, C.E.19
Smith, J.20
Cronin, K.D.21
Maia, J.M.22
Doherty, C.P.23
Pandolfo, M.24
Leppert, D.25
Middleton, L.T.26
Gibson, R.A.27
Johnson, M.R.28
Matthews, P.M.29
Hosford, D.30
Kälviäinen, R.31
Eriksson, K.32
Kantanen, A.M.33
Dorn, T.34
Hansen, J.35
Krämer, G.36
Steinhoff, B.J.37
Wieser, H.G.38
Zumsteg, D.39
Ortega, M.40
Wood, N.W.41
Huxley-Jones, J.42
Mikati, M.43
Gallentine, W.B.44
Husain, A.M.45
Buckley, P.G.46
Stallings, R.L.47
Podgoreanu, M.V.48
Delanty, N.49
Sisodiya, S.M.50
Goldstein, D.B.51
more..
-
10
-
-
77956628767
-
Genomewide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
-
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. Genomewide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 2010;6:e1000962.
-
(2010)
PLoS Genetics
, vol.6
-
-
Mefford, H.C.1
Muhle, H.2
Ostertag, P.3
von Spiczak, S.4
Buysse, K.5
Baker, C.6
Franke, A.7
Malafosse, A.8
Genton, P.9
Thomas, P.10
Gurnett, C.A.11
Schreiber, S.12
Bassuk, A.G.13
Guipponi, M.14
Stephani, U.15
Helbig, I.16
Eichler, E.E.17
-
11
-
-
84924980404
-
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis
-
Hartmann C, von Spiczak S, Suls A, Weckhuysen S, Buyse G, Vilain C, Van Bogaert P, De Jonghe P, Cook J, Muhle H, Stephani U, Helbig I, Mefford HC. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Epilepsia 2015;56:e26-32.
-
(2015)
Epilepsia
, vol.56
, pp. e26-e32
-
-
Hartmann, C.1
von Spiczak, S.2
Suls, A.3
Weckhuysen, S.4
Buyse, G.5
Vilain, C.6
Van Bogaert, P.7
De Jonghe, P.8
Cook, J.9
Muhle, H.10
Stephani, U.11
Helbig, I.12
Mefford, H.C.13
-
12
-
-
84903701403
-
Copy number variation plays an important role in clinical epilepsy
-
Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol 2014;75:943-958.
-
(2014)
Ann Neurol
, vol.75
, pp. 943-958
-
-
Olson, H.1
Shen, Y.2
Avallone, J.3
Sheidley, B.R.4
Pinsky, R.5
Bergin, A.M.6
Berry, G.T.7
Duffy, F.H.8
Eksioglu, Y.9
Harris, D.J.10
Hisama, F.M.11
Ho, E.12
Irons, M.13
Jacobsen, C.M.14
James, P.15
Kothare, S.16
Khwaja, O.17
Lipton, J.18
Loddenkemper, T.19
Markowitz, J.20
Maski, K.21
Megerian, J.T.22
Neilan, E.23
Raffalli, P.C.24
Robbins, M.25
Roberts, A.26
Roe, E.27
Rollins, C.28
Sahin, M.29
Sarco, D.30
Schonwald, A.31
Smith, S.E.32
Soul, J.33
Stoler, J.M.34
Takeoka, M.35
Tan, W.H.36
Torres, A.R.37
Tsai, P.38
Urion, D.K.39
Weissman, L.40
Wolff, R.41
Wu, B.L.42
Miller, D.T.43
Poduri, A.44
more..
-
13
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013;501:217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
Berkovic, S.F.2
Cossette, P.3
Delanty, N.4
Dlugos, D.5
Eichler, E.E.6
Epstein, M.P.7
Glauser, T.8
Goldstein, D.B.9
Han, Y.10
Heinzen, E.L.11
Hitomi, Y.12
Howell, K.B.13
Johnson, M.R.14
Kuzniecky, R.15
Lowenstein, D.H.16
Lu, Y.F.17
Madou, M.R.18
Marson, A.G.19
Mefford, H.C.20
Esmaeeli Nieh, S.21
O'Brien, T.J.22
Ottman, R.23
Petrovski, S.24
Poduri, A.25
Ruzzo, E.K.26
Scheffer, I.E.27
Sherr, E.H.28
Yuskaitis, C.J.29
Abou-Khalil, B.30
Alldredge, B.K.31
Bautista, J.F.32
Berkovic, S.F.33
Boro, A.34
Cascino, G.D.35
Consalvo, D.36
Crumrine, P.37
Devinsky, O.38
Dlugos, D.39
Epstein, M.P.40
Fiol, M.41
Fountain, N.B.42
French, J.43
Friedman, D.44
Geller, E.B.45
Glauser, T.46
Glynn, S.47
Haut, S.R.48
Hayward, J.49
Helmers, S.L.50
Joshi, S.51
Kanner, A.52
Kirsch, H.E.53
Knowlton, R.C.54
Kossoff, E.H.55
Kuperman, R.56
Kuzniecky, R.57
Lowenstein, D.H.58
McGuire, S.M.59
Motika, P.V.60
Novotny, E.J.61
Ottman, R.62
Paolicchi, J.M.63
Parent, J.M.64
Park, K.65
Poduri, A.66
Scheffer, I.E.67
Shellhaas, R.A.68
Sherr, E.H.69
Shih, J.J.70
Singh, R.71
Sirven, J.72
Smith, M.C.73
Sullivan, J.74
Lin Thio, L.75
Venkat, A.76
Vining, E.P.77
Von Allmen, G.K.78
Weisenberg, J.L.79
Widdess-Walsh, P.80
Winawer, M.R.81
more..
-
14
-
-
84921803785
-
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
-
Appenzeller S, Balling R, Barisic N, Baulac S, Caglayan H, Craiu D, De Jonghe P, Depienne C, Dimova P, Djémié T, Gormley P, Guerrini R, Helbig I, Hjalgrim H, Hoffman-Zacharska D, Jähn J, Klein KM, Koeleman B, Komarek V, Krause R, Kuhlenbäumer G, Leguern E, Lehesjoki AE, Lemke JR, Lerche H, Linnankivi T, Marini C, May P, Møller RS, Muhle H, Pal D, Palotie A, Pendziwiat M, Robbiano A, Roelens F, Rosenow F, Selmer K, Serratosa JM, Sisodiya S, Stephani U, Sterbova K, Striano P, Suls A, Talvik T, von Spiczak S, Weber Y, Weckhuysen S, Zara F, Abou-Khalil B, Alldredge BK, Andermann E, Andermann F, Amron D, Bautista JF, Berkovic SF, Bluvstein J, Boro A, Cascino G, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haas K, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent J, Park K, Poduri A, Sadleir L, Scheffer IE, Shellhaas RA, Sherr E, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Thio LL, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Johnson MR, Kuzniecky R, Lowenstein DH, Marson AG, Mefford HC, Nieh SE, O'Brien TJ, Ottman R, Petrou S, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr E; EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014;95:360-370.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 360-370
-
-
Appenzeller, S.1
Balling, R.2
Barisic, N.3
Baulac, S.4
Caglayan, H.5
Craiu, D.6
De Jonghe, P.7
Depienne, C.8
Dimova, P.9
Djémié, T.10
Gormley, P.11
Guerrini, R.12
Helbig, I.13
Hjalgrim, H.14
Hoffman-Zacharska, D.15
Jähn, J.16
Klein, K.M.17
Koeleman, B.18
Komarek, V.19
Krause, R.20
Kuhlenbäumer, G.21
Leguern, E.22
Lehesjoki, A.E.23
Lemke, J.R.24
Lerche, H.25
Linnankivi, T.26
Marini, C.27
May, P.28
Møller, R.S.29
Muhle, H.30
Pal, D.31
Palotie, A.32
Pendziwiat, M.33
Robbiano, A.34
Roelens, F.35
Rosenow, F.36
Selmer, K.37
Serratosa, J.M.38
Sisodiya, S.39
Stephani, U.40
Sterbova, K.41
Striano, P.42
Suls, A.43
Talvik, T.44
von Spiczak, S.45
Weber, Y.46
Weckhuysen, S.47
Zara, F.48
Abou-Khalil, B.49
Alldredge, B.K.50
Andermann, E.51
Andermann, F.52
Amron, D.53
Bautista, J.F.54
Berkovic, S.F.55
Bluvstein, J.56
Boro, A.57
Cascino, G.58
Consalvo, D.59
Crumrine, P.60
Devinsky, O.61
Dlugos, D.62
Epstein, M.P.63
Fiol, M.64
Fountain, N.B.65
French, J.66
Friedman, D.67
Geller, E.B.68
Glauser, T.69
Glynn, S.70
Haas, K.71
Haut, S.R.72
Hayward, J.73
Helmers, S.L.74
Joshi, S.75
Kanner, A.76
Kirsch, H.E.77
Knowlton, R.C.78
Kossoff, E.H.79
Kuperman, R.80
Kuzniecky, R.81
Lowenstein, D.H.82
McGuire, S.M.83
Motika, P.V.84
Novotny, E.J.85
Ottman, R.86
Paolicchi, J.M.87
Parent, J.88
Park, K.89
Poduri, A.90
Sadleir, L.91
Scheffer, I.E.92
Shellhaas, R.A.93
Sherr, E.94
Shih, J.J.95
Singh, R.96
Sirven, J.97
Smith, M.C.98
Sullivan, J.99
more..
-
15
-
-
84868196552
-
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
-
Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012;44:1188-1190.
-
(2012)
Nat Genet
, vol.44
, pp. 1188-1190
-
-
Heron, S.E.1
Smith, K.R.2
Bahlo, M.3
Nobili, L.4
Kahana, E.5
Licchetta, L.6
Oliver, K.L.7
Mazarib, A.8
Afawi, Z.9
Korczyn, A.10
Plazzi, G.11
Petrou, S.12
Berkovic, S.F.13
Scheffer, I.E.14
Dibbens, L.M.15
-
16
-
-
84868196065
-
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
-
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012;44:1255-1259.
-
(2012)
Nat Genet
, vol.44
, pp. 1255-1259
-
-
Barcia, G.1
Fleming, M.R.2
Deligniere, A.3
Gazula, V.R.4
Brown, M.R.5
Langouet, M.6
Chen, H.7
Kronengold, J.8
Abhyankar, A.9
Cilio, R.10
Nitschke, P.11
Kaminska, A.12
Boddaert, N.13
Casanova, J.L.14
Desguerre, I.15
Munnich, A.16
Dulac, O.17
Kaczmarek, L.K.18
Colleaux, L.19
Nabbout, R.20
more..
-
17
-
-
84858070732
-
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
-
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012;90:502-510.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 502-510
-
-
Veeramah, K.R.1
O'Brien, J.E.2
Meisler, M.H.3
Cheng, X.4
Dib-Hajj, S.D.5
Waxman, S.G.6
Talwar, D.7
Girirajan, S.8
Eichler, E.E.9
Restifo, L.L.10
Erickson, R.P.11
Hammer, M.F.12
-
18
-
-
77956394126
-
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
-
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 2010;87:371-375.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 371-375
-
-
Corbett, M.A.1
Bahlo, M.2
Jolly, L.3
Afawi, Z.4
Gardner, A.E.5
Oliver, K.L.6
Tan, S.7
Coffey, A.8
Mulley, J.C.9
Dibbens, L.M.10
Simri, W.11
Shalata, A.12
Kivity, S.13
Jackson, G.D.14
Berkovic, S.F.15
Gecz, J.16
-
19
-
-
77956361137
-
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
-
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 2010;87:365-370.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 365-370
-
-
Falace, A.1
Filipello, F.2
La Padula, V.3
Vanni, N.4
Madia, F.5
De Pietri Tonelli, D.6
de Falco, F.A.7
Striano, P.8
Dagna Bricarelli, F.9
Minetti, C.10
Benfenati, F.11
Fassio, A.12
Zara, F.13
-
20
-
-
84902171183
-
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
-
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome. Neurology 2014;82:1245-1253.
-
(2014)
Neurology
, vol.82
, pp. 1245-1253
-
-
Carvill, G.L.1
Weckhuysen, S.2
McMahon, J.M.3
Hartmann, C.4
Møller, R.S.5
Hjalgrim, H.6
Cook, J.7
Geraghty, E.8
O'Roak, B.J.9
Petrou, S.10
Clarke, A.11
Gill, D.12
Sadleir, L.G.13
Muhle, H.14
von Spiczak, S.15
Nikanorova, M.16
Hodgson, B.L.17
Gazina, E.V.18
Suls, A.19
Shendure, J.20
Dibbens, L.M.21
De Jonghe, P.22
Helbig, I.23
Berkovic, S.F.24
Scheffer, I.E.25
Mefford, H.C.26
more..
-
21
-
-
84883446382
-
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
-
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013;45:1073-1076.
-
(2013)
Nat Genet
, vol.45
, pp. 1073-1076
-
-
Carvill, G.L.1
Regan, B.M.2
Yendle, S.C.3
O'Roak, B.J.4
Lozovaya, N.5
Bruneau, N.6
Burnashev, N.7
Khan, A.8
Cook, J.9
Geraghty, E.10
Sadleir, L.G.11
Turner, S.J.12
Tsai, M.H.13
Webster, R.14
Ouvrier, R.15
Damiano, J.A.16
Berkovic, S.F.17
Shendure, J.18
Hildebrand, M.S.19
Szepetowski, P.20
Scheffer, I.E.21
Mefford, H.C.22
more..
-
22
-
-
84883463114
-
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
-
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013;45:1067-1072.
-
(2013)
Nat Genet
, vol.45
, pp. 1067-1072
-
-
Lemke, J.R.1
Lal, D.2
Reinthaler, E.M.3
Steiner, I.4
Nothnagel, M.5
Alber, M.6
Geider, K.7
Laube, B.8
Schwake, M.9
Finsterwalder, K.10
Franke, A.11
Schilhabel, M.12
Jähn, J.A.13
Muhle, H.14
Boor, R.15
Van Paesschen, W.16
Caraballo, R.17
Fejerman, N.18
Weckhuysen, S.19
De Jonghe, P.20
Larsen, J.21
Møller, R.S.22
Hjalgrim, H.23
Addis, L.24
Tang, S.25
Hughes, E.26
Pal, D.K.27
Veri, K.28
Vaher, U.29
Talvik, T.30
Dimova, P.31
Guerrero López, R.32
Serratosa, J.M.33
Linnankivi, T.34
Lehesjoki, A.E.35
Ruf, S.36
Wolff, M.37
Buerki, S.38
Wohlrab, G.39
Kroell, J.40
Datta, A.N.41
Fiedler, B.42
Kurlemann, G.43
Kluger, G.44
Hahn, A.45
Haberlandt, D.E.46
Kutzer, C.47
Sperner, J.48
Becker, F.49
Weber, Y.G.50
Feucht, M.51
Steinböck, H.52
Neophythou, B.53
Ronen, G.M.54
Gruber-Sedlmayr, U.55
Geldner, J.56
Harvey, R.J.57
Hoffmann, P.58
Herms, S.59
Altmüller, J.60
Toliat, M.R.61
Thiele, H.62
Nürnberg, P.63
Wilhelm, C.64
Stephani, U.65
Helbig, I.66
Lerche, H.67
Zimprich, F.68
Neubauer, B.A.69
Biskup, S.70
von Spiczak, S.71
more..
-
23
-
-
84883462975
-
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
-
Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 2013;45:1061-1066.
-
(2013)
Nat Genet
, vol.45
, pp. 1061-1066
-
-
Lesca, G.1
Rudolf, G.2
Bruneau, N.3
Lozovaya, N.4
Labalme, A.5
Boutry-Kryza, N.6
Salmi, M.7
Tsintsadze, T.8
Addis, L.9
Motte, J.10
Wright, S.11
Tsintsadze, V.12
Michel, A.13
Doummar, D.14
Lascelles, K.15
Strug, L.16
Waters, P.17
de Bellescize, J.18
Vrielynck, P.19
de Saint Martin, A.20
Ville, D.21
Ryvlin, P.22
Arzimanoglou, A.23
Hirsch, E.24
Vincent, A.25
Pal, D.26
Burnashev, N.27
Sanlaville, D.28
Szepetowski, P.29
more..
-
24
-
-
84894060054
-
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy
-
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014;75:147-154.
-
(2014)
Ann Neurol
, vol.75
, pp. 147-154
-
-
Lemke, J.R.1
Hendrickx, R.2
Geider, K.3
Laube, B.4
Schwake, M.5
Harvey, R.J.6
James, V.M.7
Pepler, A.8
Steiner, I.9
Hörtnagel, K.10
Neidhardt, J.11
Ruf, S.12
Wolff, M.13
Bartholdi, D.14
Caraballo, R.15
Platzer, K.16
Suls, A.17
De Jonghe, P.18
Biskup, S.19
Weckhuysen, S.20
more..
-
25
-
-
84929264219
-
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
-
Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genet 2015;96:808-815.
-
(2015)
Am J Hum Genet
, vol.96
, pp. 808-815
-
-
Carvill, G.L.1
McMahon, J.M.2
Schneider, A.3
Zemel, M.4
Myers, C.T.5
Saykally, J.6
Nguyen, J.7
Robbiano, A.8
Zara, F.9
Specchio, N.10
Mecarelli, O.11
Smith, R.L.12
Leventer, R.J.13
Møller, R.S.14
Nikanorova, M.15
Dimova, P.16
Jordanova, A.17
Petrou, S.18
Helbig, I.19
Striano, P.20
Weckhuysen, S.21
Berkovic, S.F.22
Scheffer, I.E.23
Mefford, H.C.24
more..
-
26
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013;45:825-830.
-
(2013)
Nat Genet
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
McMahon, J.M.4
O'Roak, B.J.5
Cook, J.6
Khan, A.7
Dorschner, M.O.8
Weaver, M.9
Calvert, S.10
Malone, S.11
Wallace, G.12
Stanley, T.13
Bye, A.M.14
Bleasel, A.15
Howell, K.B.16
Kivity, S.17
Mackay, M.T.18
Rodriguez-Casero, V.19
Webster, R.20
Korczyn, A.21
Afawi, Z.22
Zelnick, N.23
Lerman-Sagie, T.24
Lev, D.25
Møller, R.S.26
Gill, D.27
Andrade, D.M.28
Freeman, J.L.29
Sadleir, L.G.30
Shendure, J.31
Berkovic, S.F.32
Scheffer, I.E.33
Mefford, H.C.34
more..
-
27
-
-
84865020270
-
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
-
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012;53:1387-1398.
-
(2012)
Epilepsia
, vol.53
, pp. 1387-1398
-
-
Lemke, J.R.1
Riesch, E.2
Scheurenbrand, T.3
Schubach, M.4
Wilhelm, C.5
Steiner, I.6
Hansen, J.7
Courage, C.8
Gallati, S.9
Bürki, S.10
Strozzi, S.11
Simonetti, B.G.12
Grunt, S.13
Steinlin, M.14
Alber, M.15
Wolff, M.16
Klopstock, T.17
Prott, E.C.18
Lorenz, R.19
Spaich, C.20
Rona, S.21
Lakshminarasimhan, M.22
Kröll, J.23
Dorn, T.24
Krämer, G.25
Synofzik, M.26
Becker, F.27
Weber, Y.G.28
Lerche, H.29
Böhm, D.30
Biskup, S.31
more..
-
28
-
-
84879800722
-
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
-
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia 2013;54:1262-1269.
-
(2013)
Epilepsia
, vol.54
, pp. 1262-1269
-
-
Kodera, H.1
Kato, M.2
Nord, A.S.3
Walsh, T.4
Lee, M.5
Yamanaka, G.6
Tohyama, J.7
Nakamura, K.8
Nakagawa, E.9
Ikeda, T.10
Ben-Zeev, B.11
Lev, D.12
Lerman-Sagie, T.13
Straussberg, R.14
Tanabe, S.15
Ueda, K.16
Amamoto, M.17
Ohta, S.18
Nonoda, Y.19
Nishiyama, K.20
Tsurusaki, Y.21
Nakashima, M.22
Miyake, N.23
Hayasaka, K.24
King, M.C.25
Matsumoto, N.26
Saitsu, H.27
more..
-
29
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-1511.
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
Hardison, M.11
Person, R.12
Bekheirnia, M.R.13
Leduc, M.S.14
Kirby, A.15
Pham, P.16
Scull, J.17
Wang, M.18
Ding, Y.19
Plon, S.E.20
Lupski, J.R.21
Beaudet, A.L.22
Gibbs, R.A.23
Eng, C.M.24
more..
|