-
1
-
-
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..
-
2
-
-
84927022057
-
Parental expression is overvalued in the interpretation of rare inherited variants
-
E-published 23 April 2014. doi: 10.1038/ejhg.2014.64.
-
Costain G. 2014. Parental expression is overvalued in the interpretation of rare inherited variants. Eur J Hum Genet E-published 23 April 2014. doi: 10.1038/ejhg.2014.64.
-
(2014)
Eur J Hum Genet
-
-
Costain, G.1
-
3
-
-
84855992342
-
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
-
Costain G, Chow EW, Silversides CK, Bassett AS. 2011. Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 48:819-824.
-
(2011)
J Med Genet
, vol.48
, pp. 819-824
-
-
Costain, G.1
Chow, E.W.2
Silversides, C.K.3
Bassett, A.S.4
-
4
-
-
84887006110
-
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
-
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. 2013. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet 22:4485-4501.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 4485-4501
-
-
Costain, G.1
Lionel, A.C.2
Merico, D.3
Forsythe, P.4
Russell, K.5
Lowther, C.6
Yuen, T.7
Husted, J.8
Stavropoulos, D.J.9
Speevak, M.10
Chow, E.W.11
Marshall, C.R.12
Scherer, S.W.13
Bassett, A.S.14
-
5
-
-
84892651065
-
Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age
-
Costain G, Esplen MJ, Toner B, Hodgkinson KA, Bassett AS. 2014a. Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age. Schizophr Bull 40:88-99.
-
(2014)
Schizophr Bull
, vol.40
, pp. 88-99
-
-
Costain, G.1
Esplen, M.J.2
Toner, B.3
Hodgkinson, K.A.4
Bassett, A.S.5
-
6
-
-
84892648059
-
Evaluating genetic counseling for individuals with schizophrenia in the molecular age
-
Costain G, Esplen MJ, Toner B, Scherer SW, Meschino WS, Hodgkinson KA, Bassett AS. 2014b. Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophr Bull 40:78-87.
-
(2014)
Schizophr Bull
, vol.40
, pp. 78-87
-
-
Costain, G.1
Esplen, M.J.2
Toner, B.3
Scherer, S.W.4
Meschino, W.S.5
Hodgkinson, K.A.6
Bassett, A.S.7
-
7
-
-
77956102280
-
Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts
-
Dick DM, Meyers J, Aliev F, Nurnberger J Jr, Kramer J, Kuperman S, Porjesz B, Tischfield J, Edenberg HJ, Foroud T, Schuckit M, Goate A, Hesselbrock V, Bierut L. 2010. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. Am J Med Genet Part B 153B:1179-1188.
-
(2010)
Am J Med Genet Part B
, vol.153 B
, pp. 1179-1188
-
-
Dick, D.M.1
Meyers, J.2
Aliev, F.3
Nurnberger Jr, J.4
Kramer, J.5
Kuperman, S.6
Porjesz, B.7
Tischfield, J.8
Edenberg, H.J.9
Foroud, T.10
Schuckit, M.11
Goate, A.12
Hesselbrock, V.13
Bierut, L.14
-
8
-
-
84875933554
-
1q21.1 Microduplication expression in adults
-
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. 2013. 1q21.1 Microduplication expression in adults. Genet Med 15:282-289.
-
(2013)
Genet Med
, vol.15
, pp. 282-289
-
-
Dolcetti, A.1
Silversides, C.K.2
Marshall, C.R.3
Lionel, A.C.4
Stavropoulos, D.J.5
Scherer, S.W.6
Bassett, A.S.7
-
9
-
-
84869872719
-
Hair pulling disorder (trichotillomania): Genes, neurobiology, and a model for understanding impulsivity and compulsivity
-
Flessner CA, Knopik VS, McGeary J. 2012. Hair pulling disorder (trichotillomania): Genes, neurobiology, and a model for understanding impulsivity and compulsivity. Psychiatry Res 199:151-158.
-
(2012)
Psychiatry Res
, vol.199
, pp. 151-158
-
-
Flessner, C.A.1
Knopik, V.S.2
McGeary, J.3
-
10
-
-
0031978783
-
Trisomy 2q11.2→q21.1 resulting from an unbalanced insertion in two generations
-
Glass IA, Stormer P, Oei PT, Hacking E, Cotter PD. 1998. Trisomy 2q11.2→q21.1 resulting from an unbalanced insertion in two generations. J Med Genet 35:319-322.
-
(1998)
J Med Genet
, vol.35
, pp. 319-322
-
-
Glass, I.A.1
Stormer, P.2
Oei, P.T.3
Hacking, E.4
Cotter, P.D.5
-
11
-
-
84863494837
-
Functional regulation of GABAA receptors in nervous system pathologies
-
Hines RM, Davies PA, Moss SJ, Maguire J. 2012. Functional regulation of GABAA receptors in nervous system pathologies. Curr Opin Neurobiol 22:552-558.
-
(2012)
Curr Opin Neurobiol
, vol.22
, pp. 552-558
-
-
Hines, R.M.1
Davies, P.A.2
Moss, S.J.3
Maguire, J.4
-
12
-
-
79960812993
-
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
-
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. 2011. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 13:680-685.
-
(2011)
Genet Med
, vol.13
, pp. 680-685
-
-
Kearney, H.M.1
Thorland, E.C.2
Brown, K.K.3
Quintero-Rivera, F.4
South, S.T.5
-
13
-
-
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
-
14
-
-
79952710338
-
Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
-
Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Kendler KS, Freedman R, Dudbridge F, Pe'er I, Hakonarson H, Bergen SE, Fanous AH, Holmans PA, Gejman PV. 2011. Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 168:302-316.
-
(2011)
Am J Psychiatry
, vol.168
, pp. 302-316
-
-
Levinson, D.F.1
Duan, J.2
Oh, S.3
Wang, K.4
Sanders, A.R.5
Shi, J.6
Zhang, N.7
Mowry, B.J.8
Olincy, A.9
Amin, F.10
Cloninger, C.R.11
Silverman, J.M.12
Buccola, N.G.13
Byerley, W.F.14
Black, D.W.15
Kendler, K.S.16
Freedman, R.17
Dudbridge, F.18
Pe'er, I.19
Hakonarson, H.20
Bergen, S.E.21
Fanous, A.H.22
Holmans, P.A.23
Gejman, P.V.24
more..
-
15
-
-
0038003196
-
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia
-
Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, Hovatta I, Williams NM, Schwab SG, Pulver AE, Faraone SV, Brzustowicz LM, Kaufmann CA, Garver DL, Gurling HM, Lindholm E, Coon H, Moises HW, Byerley W, Shaw SH, Mesen A, Sherrington R, O'Neill FA, Walsh D, Kendler KS, Ekelund J, Paunio T, Lonnqvist J, Peltonen L, O'Donovan MC, Owen MJ, Wildenauer DB, Maier W, Nestadt G, Blouin JL, Antonarakis SE, Mowry BJ, Silverman JM, Crowe RR, Cloninger CR, Tsuang MT, Malaspina D, Harkavy-Friedman JM, Svrakic DM, Bassett AS, Holcomb J, Kalsi G, McQuillin A, Brynjolfson J, Sigmundsson T, Petursson H, Jazin E, Zoega T, Helgason T. 2003. Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet 73:34-48.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 34-48
-
-
Lewis, C.M.1
Levinson, D.F.2
Wise, L.H.3
DeLisi, L.E.4
Straub, R.E.5
Hovatta, I.6
Williams, N.M.7
Schwab, S.G.8
Pulver, A.E.9
Faraone, S.V.10
Brzustowicz, L.M.11
Kaufmann, C.A.12
Garver, D.L.13
Gurling, H.M.14
Lindholm, E.15
Coon, H.16
Moises, H.W.17
Byerley, W.18
Shaw, S.H.19
Mesen, A.20
Sherrington, R.21
O'Neill, F.A.22
Walsh, D.23
Kendler, K.S.24
Ekelund, J.25
Paunio, T.26
Lonnqvist, J.27
Peltonen, L.28
O'Donovan, M.C.29
Owen, M.J.30
Wildenauer, D.B.31
Maier, W.32
Nestadt, G.33
Blouin, J.L.34
Antonarakis, S.E.35
Mowry, B.J.36
Silverman, J.M.37
Crowe, R.R.38
Cloninger, C.R.39
Tsuang, M.T.40
Malaspina, D.41
Harkavy-Friedman, J.M.42
Svrakic, D.M.43
Bassett, A.S.44
Holcomb, J.45
Kalsi, G.46
McQuillin, A.47
Brynjolfson, J.48
Sigmundsson, T.49
Petursson, H.50
Jazin, E.51
Zoega, T.52
Helgason, T.53
more..
-
16
-
-
80051709029
-
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
-
95ra75
-
Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, Franke A, Schreiber S, Zwaigenbaum L, Fernandez BA, Roberts W, Arnold PD, Szatmari P, Marshall CR, Schachar R, Scherer SW. 2011. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med 3:95ra75.
-
(2011)
Sci Transl Med
, vol.3
-
-
Lionel, A.C.1
Crosbie, J.2
Barbosa, N.3
Goodale, T.4
Thiruvahindrapuram, B.5
Rickaby, J.6
Gazzellone, M.7
Carson, A.R.8
Howe, J.L.9
Wang, Z.10
Wei, J.11
Stewart, A.F.12
Roberts, R.13
McPherson, R.14
Fiebig, A.15
Franke, A.16
Schreiber, S.17
Zwaigenbaum, L.18
Fernandez, B.A.19
Roberts, W.20
Arnold, P.D.21
Szatmari, P.22
Marshall, C.R.23
Schachar, R.24
Scherer, S.W.25
more..
-
17
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 2010. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
Church, D.M.7
Crolla, J.A.8
Eichler, E.E.9
Epstein, C.J.10
Faucett, W.A.11
Feuk, L.12
Friedman, J.M.13
Hamosh, A.14
Jackson, L.15
Kaminsky, E.B.16
Kok, K.17
Krantz, I.D.18
Kuhn, R.M.19
Lee, C.20
Ostell, J.M.21
Rosenberg, C.22
Scherer, S.W.23
Spinner, N.B.24
Stavropoulos, D.J.25
Tepperberg, J.H.26
Thorland, E.C.27
Vermeesch, J.R.28
Waggoner, D.J.29
Watson, M.S.30
Martin, C.L.31
Ledbetter, D.H.32
more..
-
18
-
-
84874161631
-
Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family
-
Myles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA. 2013. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. Am J Med Genet Part B 162B:87-95.
-
(2013)
Am J Med Genet Part B
, vol.162 B
, pp. 87-95
-
-
Myles-Worsley, M.1
Tiobech, J.2
Browning, S.R.3
Korn, J.4
Goodman, S.5
Gentile, K.6
Melhem, N.7
Byerley, W.8
Faraone, S.V.9
Middleton, F.A.10
-
19
-
-
10744223321
-
Genetic epidemiology of alcohol-induced blackouts
-
Nelson EC, Heath AC, Bucholz KK, Madden PA, Fu Q, Knopik V, Lynskey MT, Whitfield JB, Statham DJ, Martin NG. 2004. Genetic epidemiology of alcohol-induced blackouts. Arch Gen Psychiatry 61:257-263.
-
(2004)
Arch Gen Psychiatry
, vol.61
, pp. 257-263
-
-
Nelson, E.C.1
Heath, A.C.2
Bucholz, K.K.3
Madden, P.A.4
Fu, Q.5
Knopik, V.6
Lynskey, M.T.7
Whitfield, J.B.8
Statham, D.J.9
Martin, N.G.10
-
20
-
-
0034740954
-
Noradrenergic pathways involved in the development of vertigo and dizziness-A review
-
Nishiike S, Takeda N, Kubo T, Nakamura S. 2001. Noradrenergic pathways involved in the development of vertigo and dizziness-A review. Acta Otolaryngol Suppl 545:61-64.
-
(2001)
Acta Otolaryngol Suppl
, vol.545
, pp. 61-64
-
-
Nishiike, S.1
Takeda, N.2
Kubo, T.3
Nakamura, S.4
-
22
-
-
79958720872
-
Phenotype mining in CNV carriers from a population cohort
-
Pietilainen OP, Rehnstrom K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen AL, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin MR, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L. 2011. Phenotype mining in CNV carriers from a population cohort. Hum Mol Genet 20:2686-2695.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2686-2695
-
-
Pietilainen, O.P.1
Rehnstrom, K.2
Jakkula, E.3
Service, S.K.4
Congdon, E.5
Tilgmann, C.6
Hartikainen, A.L.7
Taanila, A.8
Heikura, U.9
Paunio, T.10
Ripatti, S.11
Jarvelin, M.R.12
Isohanni, M.13
Sabatti, C.14
Palotie, A.15
Freimer, N.B.16
Peltonen, L.17
-
23
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. 2010. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
Conroy, J.7
Magalhaes, T.R.8
Correia, C.9
Abrahams, B.S.10
Almeida, J.11
Bacchelli, E.12
Bader, G.D.13
Bailey, A.J.14
Baird, G.15
Battaglia, A.16
Berney, T.17
Bolshakova, N.18
Bolte, S.19
Bolton, P.F.20
Bourgeron, T.21
Brennan, S.22
Brian, J.23
Bryson, S.E.24
Carson, A.R.25
Casallo, G.26
Casey, J.27
Chung, B.H.28
Cochrane, L.29
Corsello, C.30
Crawford, E.L.31
Crossett, A.32
Cytrynbaum, C.33
Dawson, G.34
de Jonge, M.35
Delorme, R.36
Drmic, I.37
Duketis, E.38
Duque, F.39
Estes, A.40
Farrar, P.41
Fernandez, B.A.42
Folstein, S.E.43
Fombonne, E.44
Freitag, C.M.45
Gilbert, J.46
Gillberg, C.47
Glessner, J.T.48
Goldberg, J.49
Green, A.50
Green, J.51
Guter, S.J.52
Hakonarson, H.53
Heron, E.A.54
Hill, M.55
Holt, R.56
Howe, J.L.57
Hughes, G.58
Hus, V.59
Igliozzi, R.60
Kim, C.61
Klauck, S.M.62
Kolevzon, A.63
Korvatska, O.64
Kustanovich, V.65
Lajonchere, C.M.66
Lamb, J.A.67
Laskawiec, M.68
Leboyer, M.69
Le Couteur, A.70
Leventhal, B.L.71
Lionel, A.C.72
Liu, X.Q.73
Lord, C.74
Lotspeich, L.75
Lund, S.C.76
Maestrini, E.77
Mahoney, W.78
Mantoulan, C.79
Marshall, C.R.80
McConachie, H.81
McDougle, C.J.82
McGrath, J.83
McMahon, W.M.84
Merikangas, A.85
Migita, O.86
Minshew, N.J.87
Mirza, G.K.88
Munson, J.89
Nelson, S.F.90
Noakes, C.91
Noor, A.92
Nygren, G.93
Oliveira, G.94
Papanikolaou, K.95
Parr, J.R.96
Parrini, B.97
Paton, T.98
Pickles, A.99
Pilorge, M.100
Piven, J.101
Ponting, C.P.102
Posey, D.J.103
Poustka, A.104
Poustka, F.105
Prasad, A.106
Ragoussis, J.107
Renshaw, K.108
Rickaby, J.109
Roberts, W.110
Roeder, K.111
Roge, B.112
Rutter, M.L.113
Bierut, L.J.114
Rice, J.P.115
Salt, J.116
Sansom, K.117
Sato, D.118
Segurado, R.119
Sequeira, A.F.120
Senman, L.121
Shah, N.122
Sheffield, V.C.123
Soorya, L.124
Sousa, I.125
Stein, O.126
Sykes, N.127
Stoppioni, V.128
Strawbridge, C.129
Tancredi, R.130
Tansey, K.131
Thiruvahindrapduram, B.132
Thompson, A.P.133
Thomson, S.134
Tryfon, A.135
Tsiantis, J.136
Van Engeland, H.137
Vincent, J.B.138
Volkmar, F.139
Wallace, S.140
Wang, K.141
Wang, Z.142
Wassink, T.H.143
Webber, C.144
Weksberg, R.145
Wing, K.146
Wittemeyer, K.147
Wood, S.148
Wu, J.149
Yaspan, B.L.150
Zurawiecki, D.151
Zwaigenbaum, L.152
Buxbaum, J.D.153
Cantor, R.M.154
Cook, E.H.155
Coon, H.156
Cuccaro, M.L.157
Devlin, B.158
Ennis, S.159
Gallagher, L.160
Geschwind, D.H.161
Gill, M.162
Haines, J.L.163
Hallmayer, J.164
Miller, J.165
Monaco, A.P.166
Nurnberger Jr, J.I.167
Paterson, A.D.168
Pericak-Vance, M.A.169
Schellenberg, G.D.170
Szatmari, P.171
Vicente, A.M.172
Vieland, V.J.173
Wijsman, E.M.174
Scherer, S.W.175
Sutcliffe, J.S.176
Betancur, C.177
more..
-
24
-
-
68049112641
-
Segmental duplications mediate novel, clinically relevant chromosome rearrangements
-
Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. 2009. Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet 18:2957-2962.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2957-2962
-
-
Rudd, M.K.1
Keene, J.2
Bunke, B.3
Kaminsky, E.B.4
Adam, M.P.5
Mulle, J.G.6
Ledbetter, D.H.7
Martin, C.L.8
-
25
-
-
84866162425
-
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
-
Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS. 2012. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet 8:e1002843.
-
(2012)
PLoS Genet
, vol.8
-
-
Silversides, C.K.1
Lionel, A.C.2
Costain, G.3
Merico, D.4
Migita, O.5
Liu, B.6
Yuen, T.7
Rickaby, J.8
Thiruvahindrapuram, B.9
Marshall, C.R.10
Scherer, S.W.11
Bassett, A.S.12
-
26
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Roge B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bolte S, Feineis-Matthews S, Herbrecht E, Schmotzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328.
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
Liu, X.Q.6
Vincent, J.B.7
Skaug, J.L.8
Thompson, A.P.9
Senman, L.10
Feuk, L.11
Qian, C.12
Bryson, S.E.13
Jones, M.B.14
Marshall, C.R.15
Scherer, S.W.16
Vieland, V.J.17
Bartlett, C.18
Mangin, L.V.19
Goedken, R.20
Segre, A.21
Pericak-Vance, M.A.22
Cuccaro, M.L.23
Gilbert, J.R.24
Wright, H.H.25
Abramson, R.K.26
Betancur, C.27
Bourgeron, T.28
Gillberg, C.29
Leboyer, M.30
Buxbaum, J.D.31
Davis, K.L.32
Hollander, E.33
Silverman, J.M.34
Hallmayer, J.35
Lotspeich, L.36
Sutcliffe, J.S.37
Haines, J.L.38
Folstein, S.E.39
Piven, J.40
Wassink, T.H.41
Sheffield, V.42
Geschwind, D.H.43
Bucan, M.44
Brown, W.T.45
Cantor, R.M.46
Constantino, J.N.47
Gilliam, T.C.48
Herbert, M.49
Lajonchere, C.50
Ledbetter, D.H.51
Lese-Martin, C.52
Miller, J.53
Nelson, S.54
Samango-Sprouse, C.A.55
Spence, S.56
State, M.57
Tanzi, R.E.58
Coon, H.59
Dawson, G.60
Devlin, B.61
Estes, A.62
Flodman, P.63
Klei, L.64
McMahon, W.M.65
Minshew, N.66
Munson, J.67
Korvatska, E.68
Rodier, P.M.69
Schellenberg, G.D.70
Smith, M.71
Spence, M.A.72
Stodgell, C.73
Tepper, P.G.74
Wijsman, E.M.75
Yu, C.E.76
Roge, B.77
Mantoulan, C.78
Wittemeyer, K.79
Poustka, A.80
Felder, B.81
Klauck, S.M.82
Schuster, C.83
Poustka, F.84
Bolte, S.85
Feineis-Matthews, S.86
Herbrecht, E.87
Schmotzer, G.88
Tsiantis, J.89
Papanikolaou, K.90
Maestrini, E.91
Bacchelli, E.92
Blasi, F.93
Carone, S.94
Toma, C.95
Van Engeland, H.96
de Jonge, M.97
Kemner, C.98
Koop, F.99
Langemeijer, M.100
Hijmans, C.101
Staal, W.G.102
Baird, G.103
Bolton, P.F.104
Rutter, M.L.105
Weisblatt, E.106
Green, J.107
Aldred, C.108
Wilkinson, J.A.109
Pickles, A.110
Le Couteur, A.111
Berney, T.112
McConachie, H.113
Bailey, A.J.114
Francis, K.115
Honeyman, G.116
Hutchinson, A.117
Parr, J.R.118
Wallace, S.119
Monaco, A.P.120
Barnby, G.121
Kobayashi, K.122
Lamb, J.A.123
Sousa, I.124
Sykes, N.125
Cook, E.H.126
Guter, S.J.127
Leventhal, B.L.128
Salt, J.129
Lord, C.130
Corsello, C.131
Hus, V.132
Weeks, D.E.133
Volkmar, F.134
Tauber, M.135
Fombonne, E.136
Shih, A.137
Meyer, K.J.138
more..
-
27
-
-
84876337451
-
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders
-
Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, Andrieux J, Vassos E, Ogilvie CM, Curran S, Collier DA. 2013. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS ONE 8:e61365.
-
(2013)
PLoS ONE
, vol.8
-
-
Tropeano, M.1
Ahn, J.W.2
Dobson, R.J.3
Breen, G.4
Rucker, J.5
Dixit, A.6
Pal, D.K.7
McGuffin, P.8
Farmer, A.9
White, P.S.10
Andrieux, J.11
Vassos, E.12
Ogilvie, C.M.13
Curran, S.14
Collier, D.A.15
-
28
-
-
84870549609
-
Chromosomal microarray versus karyotyping for prenatal diagnosis
-
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. 2012. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367:2175-2184.
-
(2012)
N Engl J Med
, vol.367
, pp. 2175-2184
-
-
Wapner, R.J.1
Martin, C.L.2
Levy, B.3
Ballif, B.C.4
Eng, C.M.5
Zachary, J.M.6
Savage, M.7
Platt, L.D.8
Saltzman, D.9
Grobman, W.A.10
Klugman, S.11
Scholl, T.12
Simpson, J.L.13
McCall, K.14
Aggarwal, V.S.15
Bunke, B.16
Nahum, O.17
Patel, A.18
Lamb, A.N.19
Thom, E.A.20
Beaudet, A.L.21
Ledbetter, D.H.22
Shaffer, L.G.23
Jackson, L.24
more..
-
29
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. 2008. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40:880-885.
-
(2008)
Nat Genet
, vol.40
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
van Rensburg, E.J.4
Gogos, J.A.5
Karayiorgou, M.6
-
30
-
-
84856428775
-
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism
-
Yu HE, Hawash K, Picker J, Stoler J, Urion D, Wu BL, Shen Y. 2012. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet 81:257-264.
-
(2012)
Clin Genet
, vol.81
, pp. 257-264
-
-
Yu, H.E.1
Hawash, K.2
Picker, J.3
Stoler, J.4
Urion, D.5
Wu, B.L.6
Shen, Y.7
|