-
1
-
-
84865957688
-
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features
-
Abdelmoity AT, LePichon JB, Nyp SS, Soden SE, Daniel CA, Yu S. 2012. 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features. J Dev Behav Pediatr 33:570-576.
-
(2012)
J Dev Behav Pediatr
, vol.33
, pp. 570-576
-
-
Abdelmoity, A.T.1
LePichon, J.B.2
Nyp, S.S.3
Soden, S.E.4
Daniel, C.A.5
Yu, S.6
-
3
-
-
84875965087
-
Prenatal counseling and the detection of copy-number variants
-
Benn PA. 2013. Prenatal counseling and the detection of copy-number variants. Genet Med 15:316-317.
-
(2013)
Genet Med
, vol.15
, pp. 316-317
-
-
Benn, P.A.1
-
4
-
-
33750128290
-
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
-
Bittel DC, Kibiryeva N, Butler MG. 2006. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 118:e1276-e1283.
-
(2006)
Pediatrics
, vol.118
-
-
Bittel, D.C.1
Kibiryeva, N.2
Butler, M.G.3
-
5
-
-
78650906267
-
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1
-
Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P. 2011. The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. Mol Cell Neurosci 46:122-135.
-
(2011)
Mol Cell Neurosci
, vol.46
, pp. 122-135
-
-
Botzolakis, E.J.1
Zhao, J.2
Gurba, K.N.3
Macdonald, R.L.4
Hedera, P.5
-
6
-
-
84865000639
-
Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice
-
Bozdagi O, Sakurai T, Dorr N, Pilorge M, Takahashi N, Buxbaum JD. 2012. Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. PLoS ONE 7:e42422.
-
(2012)
PLoS ONE
, vol.7
-
-
Bozdagi, O.1
Sakurai, T.2
Dorr, N.3
Pilorge, M.4
Takahashi, N.5
Buxbaum, J.D.6
-
7
-
-
80054848222
-
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
-
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. 2011. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 130:517-5528.
-
(2011)
Hum Genet
, vol.130
, pp. 517-5528
-
-
Burnside, R.D.1
Pasion, R.2
Mikhail, F.M.3
Carroll, A.J.4
Robin, N.H.5
Youngs, E.L.6
Gadi, I.K.7
Keitges, E.8
Jaswaney, V.L.9
Papenhausen, P.R.10
Potluri, V.R.11
Risheg, H.12
Rush, B.13
Smith, J.L.14
Schwartz, S.15
Tepperberg, J.H.16
Butler, M.G.17
-
8
-
-
1442323876
-
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
-
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. 2004. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 113:565-573.
-
(2004)
Pediatrics
, vol.113
, pp. 565-573
-
-
Butler, M.G.1
Bittel, D.C.2
Kibiryeva, N.3
Talebizadeh, Z.4
Thompson, T.5
-
9
-
-
0014686693
-
Polygenic inheritance and common diseases
-
Carter CO. 1969. Polygenic inheritance and common diseases. Lancet 1:1252-1256.
-
(1969)
Lancet
, vol.1
, pp. 1252-1256
-
-
Carter, C.O.1
-
10
-
-
0142027581
-
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
-
Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD. 2003. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 73:898-925.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 898-925
-
-
Chai, J.H.1
Locke, D.P.2
Greally, J.M.3
Knoll, J.H.4
Ohta, T.5
Dunai, J.6
Yavor, A.7
Eichler, E.E.8
Nicholls, R.D.9
-
11
-
-
13444309076
-
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
-
Chen S, Song C, Guo H, Xu P, Huang W, Zhou Y, Sun J, Li CX, Du Y, Li X, Liu Z, Geng D, Maxwell PH, Zhang C, Wang Y. 2005. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat 25:135-141.
-
(2005)
Hum Mutat
, vol.25
, pp. 135-141
-
-
Chen, S.1
Song, C.2
Guo, H.3
Xu, P.4
Huang, W.5
Zhou, Y.6
Sun, J.7
Li, C.X.8
Du, Y.9
Li, X.10
Liu, Z.11
Geng, D.12
Maxwell, P.H.13
Zhang, C.14
Wang, Y.15
-
12
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43:838-846.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
Rosenfeld, J.A.4
Vu, T.H.5
Baker, C.6
Williams, C.7
Stalker, H.8
Hamid, R.9
Hannig, V.10
Abdel-Hamid, H.11
Bader, P.12
McCracken, E.13
Niyazov, D.14
Leppig, K.15
Thiese, H.16
Hummel, M.17
Alexander, N.18
Gorski, J.19
Kussmann, J.20
Shashi, V.21
Johnson, K.22
Rehder, C.23
Ballif, B.C.24
Shaffer, L.G.25
Eichler, E.E.26
more..
-
13
-
-
79958110832
-
Contactin 4 as an autism susceptibility locus
-
Cottrell CE, Bir N, Varga E, Alvarez CE, Bouyain S, Zernzach R, Thrush DL, Evans J, Trimarchi M, Butter EM, Cunningham D, Gastier-Foster JM, McBride KL, Herman GE. 2011. Contactin 4 as an autism susceptibility locus. Autism Res 4:189-199.
-
(2011)
Autism Res
, vol.4
, pp. 189-199
-
-
Cottrell, C.E.1
Bir, N.2
Varga, E.3
Alvarez, C.E.4
Bouyain, S.5
Zernzach, R.6
Thrush, D.L.7
Evans, J.8
Trimarchi, M.9
Butter, E.M.10
Cunningham, D.11
Gastier-Foster, J.M.12
McBride, K.L.13
Herman, G.E.14
-
14
-
-
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, Trenite DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De Jonghe P, Suls A, Ruckert IM, Wichmann HE, Franke A, Schreiber S, Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. 2010. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:23-32.
-
(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
Trenite, 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
Moller, R.S.28
Hjalgrim, H.29
De Jonghe, P.30
Suls, A.31
Ruckert, I.M.32
Wichmann, H.E.33
Franke, A.34
Schreiber, S.35
Nurnberg, 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..
-
15
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921-1929.
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
Vulto-van Silfhout, A.T.7
Koolen, D.A.8
de Vries, P.9
Gilissen, C.10
del Rosario, M.11
Hoischen, A.12
Scheffer, H.13
de Vries, B.B.14
Brunner, H.G.15
Veltman, J.A.16
Vissers, L.E.17
-
16
-
-
80052389009
-
Regulation of molecular pathways in the fragile X syndrome: Insights into autism spectrum disorders
-
De Rubeis S, Bagni C. 2011. Regulation of molecular pathways in the fragile X syndrome: Insights into autism spectrum disorders. J Neurodev Disord 3:257-269.
-
(2011)
J Neurodev Disord
, vol.3
, pp. 257-269
-
-
De Rubeis, S.1
Bagni, C.2
-
17
-
-
67349130116
-
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
-
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. 2009. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet 52:108-115.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 108-115
-
-
Doornbos, M.1
Sikkema-Raddatz, B.2
Ruijvenkamp, C.A.3
Dijkhuizen, T.4
Bijlsma, E.K.5
Gijsbers, A.C.6
Hilhorst-Hofstee, Y.7
Hordijk, R.8
Verbruggen, K.T.9
Kerstjens-Frederikse, W.S.10
van Essen, T.11
Kok, K.12
van Silfhout, A.T.13
Breuning, M.14
van Ravenswaaij-Arts, C.M.15
-
18
-
-
50449083328
-
Behavior in Prader-Willi syndrome: Relationship to genetic subtypes and age
-
Dykens EM, Roof E. 2008. Behavior in Prader-Willi syndrome: Relationship to genetic subtypes and age. J Child Psychol Psychiatry 49:1001-1008.
-
(2008)
J Child Psychol Psychiatry
, vol.49
, pp. 1001-1008
-
-
Dykens, E.M.1
Roof, E.2
-
19
-
-
0029736830
-
The genetics of mental retardation
-
Flint J, Wilkie AO. 1996. The genetics of mental retardation. Br Med Bull 52:453-464.
-
(1996)
Br Med Bull
, vol.52
, pp. 453-464
-
-
Flint, J.1
Wilkie, A.O.2
-
20
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gecz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203-209.
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
Itsara, A.6
Vives, L.7
Walsh, T.8
McCarthy, S.E.9
Baker, C.10
Mefford, H.C.11
Kidd, J.M.12
Browning, S.R.13
Browning, B.L.14
Dickel, D.E.15
Levy, D.L.16
Ballif, B.C.17
Platky, K.18
Farber, D.M.19
Gowans, G.C.20
Wetherbee, J.J.21
Asamoah, A.22
Weaver, D.D.23
Mark, P.R.24
Dickerson, J.25
Garg, B.P.26
Ellingwood, S.A.27
Smith, R.28
Banks, V.C.29
Smith, W.30
McDonald, M.T.31
Hoo, J.J.32
French, B.N.33
Hudson, C.34
Johnson, J.P.35
Ozmore, J.R.36
Moeschler, J.B.37
Surti, U.38
Escobar, L.F.39
El-Khechen, D.40
Gorski, J.L.41
Kussmann, J.42
Salbert, B.43
Lacassie, Y.44
Biser, A.45
McDonald-McGinn, D.M.46
Zackai, E.H.47
Deardorff, M.A.48
Shaikh, T.H.49
Haan, E.50
Friend, K.L.51
Fichera, M.52
Romano, C.53
Gecz, J.54
DeLisi, L.E.55
Sebat, J.56
King, M.C.57
Shaffer, L.G.58
Eichler, E.E.59
more..
-
21
-
-
84867172514
-
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
-
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. 2012. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 367:1321-1331.
-
(2012)
N Engl J Med
, vol.367
, pp. 1321-1331
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Coe, B.P.3
Parikh, S.4
Friedman, N.5
Goldstein, A.6
Filipink, R.A.7
McConnell, J.S.8
Angle, B.9
Meschino, W.S.10
Nezarati, M.M.11
Asamoah, A.12
Jackson, K.E.13
Gowans, G.C.14
Martin, J.A.15
Carmany, E.P.16
Stockton, D.W.17
Schnur, R.E.18
Penney, L.S.19
Martin, D.M.20
Raskin, S.21
Leppig, K.22
Thiese, H.23
Smith, R.24
Aberg, E.25
Niyazov, D.M.26
Escobar, L.F.27
El-Khechen, D.28
Johnson, K.D.29
Lebel, R.R.30
Siefkas, K.31
Ball, S.32
Shur, N.33
McGuire, M.34
Brasington, C.K.35
Spence, J.E.36
Martin, L.S.37
Clericuzio, C.38
Ballif, B.C.39
Shaffer, L.G.40
Eichler, E.E.41
more..
-
22
-
-
34247275788
-
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter
-
Goytain A, Hines RM, El-Husseini A, Quamme GA. 2007. NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. J Biol Chem 282:8060-8068.
-
(2007)
J Biol Chem
, vol.282
, pp. 8060-8068
-
-
Goytain, A.1
Hines, R.M.2
El-Husseini, A.3
Quamme, G.A.4
-
23
-
-
84862759383
-
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
-
Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X. 2012. NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet 131:1217-1224.
-
(2012)
Hum Genet
, vol.131
, pp. 1217-1224
-
-
Jiang, Y.1
Zhang, Y.2
Zhang, P.3
Sang, T.4
Zhang, F.5
Ji, T.6
Huang, Q.7
Xie, H.8
Du, R.9
Cai, B.10
Zhao, H.11
Wang, J.12
Wu, Y.13
Wu, H.14
Xu, K.15
Liu, X.16
Chan, P.17
Wu, X.18
-
24
-
-
64549147485
-
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
-
Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P, Craddock N, Owen MJ, O'Donovan MC. 2009. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 18:1497-1503.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1497-1503
-
-
Kirov, G.1
Grozeva, D.2
Norton, N.3
Ivanov, D.4
Mantripragada, K.K.5
Holmans, P.6
Craddock, N.7
Owen, M.J.8
O'Donovan, M.C.9
-
25
-
-
84886272581
-
-
Analysis of CNVs of the BP1-BP2 region (15q11.2) suggests mild pathogenicity in autism families. American Society of Human Genetics/ICHG 2011.
-
Kommu N, Sanders S, Kaminsky E, Stankiewicz P, Martin APC, Wiszniewska J, Beaudet A. 2011. Analysis of CNVs of the BP1-BP2 region (15q11.2) suggests mild pathogenicity in autism families. American Society of Human Genetics/ICHG 2011.
-
(2011)
-
-
Kommu, N.1
Sanders, S.2
Kaminsky, E.3
Stankiewicz, P.4
Martin, A.P.C.5
Wiszniewska, J.6
Beaudet, A.7
-
26
-
-
78149255386
-
Two-hit wonder: A novel genetic model to explain variable expressivity in severe pediatric phenotypes
-
Kumar RA. 2010. Two-hit wonder: A novel genetic model to explain variable expressivity in severe pediatric phenotypes. Clin Genet 78:517-519.
-
(2010)
Clin Genet
, vol.78
, pp. 517-519
-
-
Kumar, R.A.1
-
27
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsater H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemiere N, Skuse D, Poot M, Holt R, Monaco AP, Jarvela I, Kantojarvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. 2012. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 8:e1002521.
-
(2012)
PLoS Genet
, vol.8
-
-
Leblond, C.S.1
Heinrich, J.2
Delorme, R.3
Proepper, C.4
Betancur, C.5
Huguet, G.6
Konyukh, M.7
Chaste, P.8
Ey, E.9
Rastam, M.10
Anckarsater, H.11
Nygren, G.12
Gillberg, I.C.13
Melke, J.14
Toro, R.15
Regnault, B.16
Fauchereau, F.17
Mercati, O.18
Lemiere, N.19
Skuse, D.20
Poot, M.21
Holt, R.22
Monaco, A.P.23
Jarvela, I.24
Kantojarvi, K.25
Vanhala, R.26
Curran, S.27
Collier, D.A.28
Bolton, P.29
Chiocchetti, A.30
Klauck, S.M.31
Poustka, F.32
Freitag, C.M.33
Waltes, R.34
Kopp, M.35
Duketis, E.36
Bacchelli, E.37
Minopoli, F.38
Ruta, L.39
Battaglia, A.40
Mazzone, L.41
Maestrini, E.42
Sequeira, A.F.43
Oliveira, B.44
Vicente, A.45
Oliveira, G.46
Pinto, D.47
Scherer, S.W.48
Zelenika, D.49
Delepine, M.50
Lathrop, M.51
Bonneau, D.52
Guinchat, V.53
Devillard, F.54
Assouline, B.55
Mouren, M.C.56
Leboyer, M.57
Gillberg, C.58
Boeckers, T.M.59
Bourgeron, T.60
more..
-
28
-
-
84865539083
-
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
-
Madrigal I, Rodriguez-Revenga L, Xuncla M, Mila M. 2012. 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. Gene 508:92-95.
-
(2012)
Gene
, vol.508
, pp. 92-95
-
-
Madrigal, I.1
Rodriguez-Revenga, L.2
Xuncla, M.3
Mila, M.4
-
29
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
-
Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. 2009. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 19:1579-1585.
-
(2009)
Genome Res
, vol.19
, pp. 1579-1585
-
-
Mefford, H.C.1
Cooper, G.M.2
Zerr, T.3
Smith, J.D.4
Baker, C.5
Shafer, N.6
Thorland, E.C.7
Skinner, C.8
Schwartz, C.E.9
Nickerson, D.A.10
Eichler, E.E.11
-
30
-
-
33644678754
-
Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype
-
Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF. 2005. Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry 46:1089-1096.
-
(2005)
J Child Psychol Psychiatry
, vol.46
, pp. 1089-1096
-
-
Milner, K.M.1
Craig, E.E.2
Thompson, R.J.3
Veltman, M.W.4
Thomas, N.S.5
Roberts, S.6
Bellamy, M.7
Curran, S.R.8
Sporikou, C.M.9
Bolton, P.F.10
-
31
-
-
0035196659
-
GCP5 and GCP6: Two new members of the human gamma-tubulin complex
-
Murphy SM, Preble AM, Patel UK, O'Connell KL, Dias DP, Moritz M, Agard D, Stults JT, Stearns T. 2001. GCP5 and GCP6: Two new members of the human gamma-tubulin complex. Mol Biol Cell 12:3340-3352.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 3340-3352
-
-
Murphy, S.M.1
Preble, A.M.2
Patel, U.K.3
O'Connell, K.L.4
Dias, D.P.5
Moritz, M.6
Agard, D.7
Stults, J.T.8
Stearns, T.9
-
32
-
-
33846669291
-
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
-
Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT. 2007. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. Cytogenet Genome Res 116:135-140.
-
(2007)
Cytogenet Genome Res
, vol.116
, pp. 135-140
-
-
Murthy, S.K.1
Nygren, A.O.2
El Shakankiry, H.M.3
Schouten, J.P.4
Al Khayat, A.I.5
Ridha, A.6
Al Ali, M.T.7
-
33
-
-
51549108502
-
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
-
Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C. 2008. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell 134:1042-1054.
-
(2008)
Cell
, vol.134
, pp. 1042-1054
-
-
Napoli, I.1
Mercaldo, V.2
Boyl, P.P.3
Eleuteri, B.4
Zalfa, F.5
De Rubeis, S.6
Di Marino, D.7
Mohr, E.8
Massimi, M.9
Falconi, M.10
Witke, W.11
Costa-Mattioli, M.12
Sonenberg, N.13
Achsel, T.14
Bagni, C.15
-
34
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. 2011. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43:585-589.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
Karakoc, E.7
Mackenzie, A.P.8
Ng, S.B.9
Baker, C.10
Rieder, M.J.11
Nickerson, D.A.12
Bernier, R.13
Fisher, S.E.14
Shendure, J.15
Eichler, E.E.16
-
35
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. 2003. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73:967-971.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
36
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. 2012. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380:1674-1682.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
Albrecht, B.7
Bartholdi, D.8
Beygo, J.9
Di Donato, N.10
Dufke, A.11
Cremer, K.12
Hempel, M.13
Horn, D.14
Hoyer, J.15
Joset, P.16
Ropke, A.17
Moog, U.18
Riess, A.19
Thiel, C.T.20
Tzschach, A.21
Wiesener, A.22
Wohlleber, E.23
Zweier, C.24
Ekici, A.B.25
Zink, A.M.26
Rump, A.27
Meisinger, C.28
Grallert, H.29
Sticht, H.30
Schenck, A.31
Engels, H.32
Rappold, G.33
Schrock, E.34
Wieacker, P.35
Riess, O.36
Meitinger, T.37
Reis, A.38
Strom, T.M.39
more..
-
37
-
-
78650549600
-
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
-
Robinson PN. 2010. Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biol 11:144.
-
(2010)
Genome Biol
, vol.11
, pp. 144
-
-
Robinson, P.N.1
-
38
-
-
84878873338
-
Estimates of penetrance for recurrent pathogenic copy-number variations
-
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. 2012. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med 15:478-481.
-
(2012)
Genet Med
, vol.15
, pp. 478-481
-
-
Rosenfeld, J.A.1
Coe, B.P.2
Eichler, E.E.3
Cuckle, H.4
Shaffer, L.G.5
-
39
-
-
79959372833
-
[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]
-
Sempere Perez A, Manchon Trives I, Palazon Azorin I, Alcaraz Mas L, Perez Lledo E, Galan Sanchez F. 2011. [15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. An Pediatr (Barc) 75:58-562.
-
(2011)
An Pediatr (Barc)
, vol.75
, pp. 58-562
-
-
Sempere Perez, A.1
Manchon Trives, I.2
Palazon Azorin, I.3
Alcaraz Mas, L.4
Perez Lledo, E.5
Galan Sanchez, F.6
-
40
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Moller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Muhleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nothen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. 2008. Large recurrent microdeletions associated with schizophrenia. Nature 455:232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietilainen, O.P.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
Hansen, T.11
Jakobsen, K.D.12
Muglia, P.13
Francks, C.14
Matthews, P.M.15
Gylfason, A.16
Halldorsson, B.V.17
Gudbjartsson, D.18
Thorgeirsson, T.E.19
Sigurdsson, A.20
Jonasdottir, A.21
Bjornsson, A.22
Mattiasdottir, S.23
Blondal, T.24
Haraldsson, M.25
Magnusdottir, B.B.26
Giegling, I.27
Moller, H.J.28
Hartmann, A.29
Shianna, K.V.30
Ge, D.31
Need, A.C.32
Crombie, C.33
Fraser, G.34
Walker, N.35
Lonnqvist, J.36
Suvisaari, J.37
Tuulio-Henriksson, A.38
Paunio, T.39
Toulopoulou, T.40
Bramon, E.41
Di Forti, M.42
Murray, R.43
Ruggeri, M.44
Vassos, E.45
Tosato, S.46
Walshe, M.47
Li, T.48
Vasilescu, C.49
Muhleisen, T.W.50
Wang, A.G.51
Ullum, H.52
Djurovic, S.53
Melle, I.54
Olesen, J.55
Kiemeney, L.A.56
Franke, B.57
Sabatti, C.58
Freimer, N.B.59
Gulcher, J.R.60
Thorsteinsdottir, U.61
Kong, A.62
Andreassen, O.A.63
Ophoff, R.A.64
Georgi, A.65
Rietschel, M.66
Werge, T.67
Petursson, H.68
Goldstein, D.B.69
Nothen, M.M.70
Peltonen, L.71
Collier, D.A.72
St Clair, D.73
Stefansson, K.74
more..
-
41
-
-
70349579493
-
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
-
Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E. 2009. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum Mol Genet 18:3805-3821.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3805-3821
-
-
Tsang, H.T.1
Edwards, T.L.2
Wang, X.3
Connell, J.W.4
Davies, R.J.5
Durrington, H.J.6
O'Kane, C.J.7
Luzio, J.P.8
Reid, E.9
-
42
-
-
12744274907
-
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients
-
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. 2005. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients. Clin Genet 67:47-52.
-
(2005)
Clin Genet
, vol.67
, pp. 47-52
-
-
Varela, M.C.1
Kok, F.2
Setian, N.3
Kim, C.A.4
Koiffmann, C.P.5
-
43
-
-
77649134592
-
Understanding variable expressivity in microdeletion syndromes
-
Veltman JA, Brunner HG. 2010. Understanding variable expressivity in microdeletion syndromes. Nat Genet 42:192-193.
-
(2010)
Nat Genet
, vol.42
, pp. 192-193
-
-
Veltman, J.A.1
Brunner, H.G.2
-
44
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. 2010. A de novo paradigm for mental retardation. Nat Genet 42:1109-1112.
-
(2010)
Nat Genet
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
de Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
de Vries, P.6
van Lier, B.7
Arts, P.8
Wieskamp, N.9
del Rosario, M.10
van Bon, B.W.11
Hoischen, A.12
de Vries, B.B.13
Brunner, H.G.14
Veltman, J.A.15
-
45
-
-
79955474079
-
15q11.2 microdeletion-Seven new patients with delayed development and/or behavioural problems
-
von der Lippe C, Rustad C, Heimdal K, Rodningen OK. 2011. 15q11.2 microdeletion-Seven new patients with delayed development and/or behavioural problems. Eur J Med Genet 54:357-360.
-
(2011)
Eur J Med Genet
, vol.54
, pp. 357-360
-
-
von der Lippe, C.1
Rustad, C.2
Heimdal, K.3
Rodningen, O.K.4
-
46
-
-
58149396830
-
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism
-
Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P. 2008. Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J Neurosci 28:13938-13951.
-
(2008)
J Neurosci
, vol.28
, pp. 13938-13951
-
-
Zhao, J.1
Matthies, D.S.2
Botzolakis, E.J.3
Macdonald, R.L.4
Blakely, R.D.5
Hedera, P.6
|