-
1
-
-
57349087779
-
Genetic influences on thought problems in 7-year-olds: A twin-study of genetic, environmental and rater effects
-
Abdellaoui, A., Bartels, M., Hudziak, J. J., Rizzu, P., Van Beijsterveldt, T. C., & Boomsma, D. I. (2008). Genetic influences on thought problems in 7-year-olds: A twin-study of genetic, environmental and rater effects. Twin Research and Human Genetics, 11, 571-578.
-
(2008)
Twin Research and Human Genetics
, vol.11
, pp. 571-578
-
-
Abdellaoui, A.1
Bartels, M.2
Hudziak, J.J.3
Rizzu, P.4
Van Beijsterveldt, T.C.5
Boomsma, D.I.6
-
2
-
-
84856626611
-
Thought problems from adolescence to adulthood: Measurement invariance and longitudinal heritability
-
Abdellaoui, A., de Moor, M. H., Geels, L. M., van Beek, J. H., Willemsen, G., & Boomsma, D. I. (2012). Thought problems from adolescence to adulthood: Measurement invariance and longitudinal heritability. Behavior Genetics, 42, 19-29.
-
(2012)
Behavior Genetics
, vol.42
, pp. 19-29
-
-
Abdellaoui, A.1
De Moor, M.H.2
Geels, L.M.3
Van Beek, J.H.4
Willemsen, G.5
Boomsma, D.I.6
-
3
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov, A., Urban, A. E., Snyder, M., & Gerstein, M. (2011). CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Research, 21, 974-984.
-
(2011)
Genome Research
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
4
-
-
4444341935
-
-
Burlington, VT: University of Vermont, Research Center for Children, Youth, & Families
-
Achenbach, T., & Rescorla, L. (2003). Manual for the ASEBA adult forms and profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth, & Families.
-
(2003)
Manual for the ASEBA Adult Forms and Profiles.
-
-
Achenbach, T.1
Rescorla, L.2
-
5
-
-
77951836633
-
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
-
Baranzini, S. E., Mudge, J., van Velkinburgh, J. C., Khankhanian, P., Khrebtukova, I., Miller, N. A., . . . Kim, R.W. (2010). Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature, 464, 1351-1356.
-
(2010)
Nature
, vol.464
, pp. 1351-1356
-
-
Baranzini, S.E.1
Mudge, J.2
Van Velkinburgh, J.C.3
Khankhanian, P.4
Khrebtukova, I.5
Miller, N.A.6
Kim, R.W.7
-
6
-
-
84880817544
-
CNV analysis in monozygotic twin pairs discordant for urorectal malformations
-
Baudisch, F., Draaken, M., Bartels, E., Schmiedeke, E., Bagci, S., Bartmann, P., . . . Reutter, H. (2013). CNV analysis in monozygotic twin pairs discordant for urorectal malformations. Twin Research and Human Genetics, 16, 802-807.
-
(2013)
Twin Research and Human Genetics
, vol.16
, pp. 802-807
-
-
Baudisch, F.1
Draaken, M.2
Bartels, E.3
Schmiedeke, E.4
Bagci, S.5
Bartmann, P.6
Reutter, H.7
-
7
-
-
84875931719
-
Comprehensive analysis of copy number variation in monozygotic twins discordant for bipolar disorder or schizophrenia
-
Bloom, R. J., Kähler, A. K., Collins, A. L., Chen, G., Cannon, T. D., Hultman, C., . . . Sullivan, P. F. (2013). Comprehensive analysis of copy number variation in monozygotic twins discordant for bipolar disorder or schizophrenia. Schizophrenia Research, 146, 289-290.
-
(2013)
Schizophrenia Research
, vol.146
, pp. 289-290
-
-
Bloom, R.J.1
Kähler, A.K.2
Collins, A.L.3
Chen, G.4
Cannon, T.D.5
Hultman, C.6
Sullivan, P.F.7
-
8
-
-
0036844867
-
Classical twin studies and beyond
-
Boomsma, D. I., Busjahn, A., & Peltonen, L. (2002). Classical twin studies and beyond. Nature Reviews Genetics, 3, 872-882.
-
(2002)
Nature Reviews Genetics
, vol.3
, pp. 872-882
-
-
Boomsma, D.I.1
Busjahn, A.2
Peltonen, L.3
-
9
-
-
33846222753
-
Netherlands Twin Register: From twins to twin families
-
Boomsma, D. I., De Geus, E. J., Vink, J. M., Stubbe, J. H., Distel, M. A., Hottenga, J.-J., . . . Bartels, M. (2006). Netherlands Twin Register: From twins to twin families. Twin Research and Human Genetics, 9, 849-857.
-
(2006)
Twin Research and Human Genetics
, vol.9
, pp. 849-857
-
-
Boomsma, D.I.1
De Geus, E.J.2
Vink, J.M.3
Stubbe, J.H.4
Distel, M.A.5
Hottenga, J.-J.6
Bartels, M.7
-
10
-
-
84892798985
-
The genome of the Netherlands: Design, and project goals
-
Boomsma,D. I.,Wijmenga, C., Slagboom, E. P., Swertz, M. A., Karssen, L. C., Abdellaoui, A., . . . van Dijk, F. (2014). The genome of the Netherlands: Design, and project goals. European Journal of Human Genetics, 22, 221-227.
-
(2014)
European Journal of Human Genetics
, vol.22
, pp. 221-227
-
-
Boomsma, D.I.1
Wijmenga, C.2
Slagboom, E.P.3
Swertz, M.A.4
Karssen, L.C.5
Abdellaoui, A.6
Van Dijk, F.7
-
11
-
-
84856412296
-
Differences in copy number variation between discordant monozygotic twins as a model for exploring chromosomal mosaicism in congenital heart defects
-
Breckpot, J., Thienpont, B., Gewillig, M., Allegaert, K., Vermeesch, J., & Devriendt, K. (2012). Differences in copy number variation between discordant monozygotic twins as a model for exploring chromosomal mosaicism in congenital heart defects. Molecular Syndromology, 2, 81-87.
-
(2012)
Molecular Syndromology
, vol.2
, pp. 81-87
-
-
Breckpot, J.1
Thienpont, B.2
Gewillig, M.3
Allegaert, K.4
Vermeesch, J.5
Devriendt, K.6
-
12
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder, C. E., Piotrowski, A., Gijsbers, A. A., Andersson, R., Erickson, S., Diaz de Ståhl, T., . . . Poplawski, A. (2008). Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. The American Journal of HumanGenetics, 82, 763-771.
-
(2008)
The American Journal of Human Genetics
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
Piotrowski, A.2
Gijsbers, A.A.3
Andersson, R.4
Erickson, S.5
Diaz De Ståhl, T.6
Poplawski, A.7
-
13
-
-
80054848222
-
Microdeletion/ microduplication of proximal 15q11. 2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
-
Burnside,R. D.,Pasion,R.,Mikhail,F.M.,Carroll,A. J.,Robin, N. H., Youngs, E. L., . . . Papenhausen, P. R. (2011). Microdeletion/ microduplication of proximal 15q11. 2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay. Human Genetics, 130, 517-528.
-
(2011)
Human Genetics
, vol.130
, pp. 517-528
-
-
Burnside, R.D.1
Pasion, R.2
Mikhail, F.M.3
Carroll, A.J.4
Robin, N.H.5
Youngs, E.L.6
Papenhausen, P.R.7
-
14
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
Cook, Jr. E. H., & Scherer, S.W. (2008) Copy-number variations associated with neuropsychiatric conditions. Nature, 455, 919-923.
-
(2008)
Nature
, vol.455
, pp. 919-923
-
-
Cook, E.H.1
Scherer, S.W.2
-
15
-
-
74249088463
-
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
-
deKovel,C. G., Trucks,H.,Helbig, I.,Mefford,H. C.,Baker,C., Leu, C., . . . Ostertag,P. (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
Ostertag, P.7
-
16
-
-
84919674670
-
Genetics of ADHD, hyperactivity, and attention problems
-
Y. K. Kim (Ed.) New York: Springer
-
Derks, E. M., Hudziak, J. J., & Boomsma, D. I. (2009). Genetics of ADHD, hyperactivity, and attention problems. In Y. K. Kim (Ed.), Handbook of behavior genetics (pp. 361-378). New York: Springer.
-
(2009)
Handbook of Behavior Genetics
, pp. 361-378
-
-
Derks, E.M.1
Hudziak, J.J.2
Boomsma, D.I.3
-
17
-
-
32944477397
-
The relations between DISC-IV DSM diagnoses of ADHD and multi-informant CBCL-AP syndrome scores
-
Derks, E. M., Hudziak, J. J., Dolan, C. V., Ferdinand, R. F., & Boomsma, D. I. (2006). The relations between DISC-IV DSM diagnoses of ADHD and multi-informant CBCL-AP syndrome scores. Comprehensive Psychiatry, 47, 116-122.
-
(2006)
Comprehensive Psychiatry
, vol.47
, pp. 116-122
-
-
Derks, E.M.1
Hudziak, J.J.2
Dolan, C.V.3
Ferdinand, R.F.4
Boomsma, D.I.5
-
18
-
-
0024210659
-
Similar molecular deletions on chromosome 15q11. 2 are encountered in both the Prader-Willi and Angelman syndromes
-
Donlon, T. (1988). Similar molecular deletions on chromosome 15q11. 2 are encountered in both the Prader-Willi and Angelman syndromes. Human Genetics, 80, 322-328.
-
(1988)
Human Genetics
, vol.80
, pp. 322-328
-
-
Donlon, T.1
-
19
-
-
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, C. A., Dijkhuizen,T., Bijlsma, E. K.,Gijsbers, A. C., . . . Kerstjens-Frederikse, W. (2009). Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. European Journal of Medical Genetics, 52, 108-115.
-
(2009)
European Journal of Medical Genetics
, 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
Kerstjens-Frederikse, W.7
-
20
-
-
84866537913
-
De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems
-
Ehli, E. A., Abdellaoui, A., Hu, Y., Hottenga, J. J., Kattenberg, M., van Beijsterveldt, T., . . . Scheet, P. (2012).De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems. European Journal of Human Genetics, 20, 1037-1043.
-
(2012)
European Journal of Human Genetics
, vol.20
, pp. 1037-1043
-
-
Ehli, E.A.1
Abdellaoui, A.2
Hu, Y.3
Hottenga, J.J.4
Kattenberg, M.5
Van Beijsterveldt, T.6
Scheet, P.7
-
21
-
-
84857050624
-
Agerelated somatic structural changes in the nuclear genome of human blood cells
-
Forsberg, L. A., Rasi, C., Razzaghian, H. R., Pakalapati, G., Waite, L., Thilbeault, K. S., . . . Dumanski, J. P. (2012).Agerelated somatic structural changes in the nuclear genome of human blood cells. American Journal of Human Genetics, 90, 217-228.
-
(2012)
American Journal of Human Genetics
, vol.90
, pp. 217-228
-
-
Forsberg, L.A.1
Rasi, C.2
Razzaghian, H.R.3
Pakalapati, G.4
Waite, L.5
Thilbeault, K.S.6
Dumanski, J.P.7
-
22
-
-
84872616388
-
Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus
-
Furukawa, H., Oka, S., Matsui, T, Hashimoto, A., Arinuma, Y., Komiya, A., . . . Tohma, S. (2013). Genome, epigenome and transcriptome analyses of a pair of monozygotic twins discordant for systemic lupus erythematosus. Human Immunology, 74, 170-175.
-
(2013)
Human Immunology
, vol.74
, pp. 170-175
-
-
Furukawa, H.1
Oka, S.2
Matsui, T.3
Hashimoto, A.4
Arinuma, Y.5
Komiya, A.6
Tohma, S.7
-
23
-
-
84857956296
-
Chromosome 22q11. 2microdeletion in monozygotic twinswith discordant phenotype and deletion size
-
Halder, A., Jain,M., Chaudhary, I., & Varma, B. (2012). Chromosome 22q11. 2microdeletion in monozygotic twinswith discordant phenotype and deletion size. Molecular Cytogenetics, 5, 13.
-
(2012)
Molecular Cytogenetics
, vol.5
, pp. 13
-
-
Halder, A.1
Jain, M.2
Chaudhary, I.3
Varma, B.4
-
24
-
-
78649264297
-
De novo rates and selection of large copy number variation
-
Itsara, A., Wu, H., Smith, J. D., Nickerson, D. A., Romieu, I., London, S. J., . . . Eichler, E. E. (2010). De novo rates and selection of large copy number variation. Genome Research, 20, 1469-1481.
-
(2010)
Genome Research
, vol.20
, pp. 1469-1481
-
-
Itsara, A.1
Wu, H.2
Smith, J.D.3
Nickerson, D.A.4
Romieu, I.5
London, S.J.6
Eichler, E.E.7
-
25
-
-
79951991648
-
500 K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip
-
Jakobsen, L. P., Bugge, M., Ullmann, R., Schjerling, C. K., Borup, R., . . . Tommerup, N. (2011). 500 K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. American Journal of Medical Genetics Part A, 155, 652-655.
-
(2011)
American Journal of Medical Genetics Part A
, vol.155
, pp. 652-655
-
-
Jakobsen, L.P.1
Bugge, M.2
Ullmann, R.3
Schjerling, C.K.4
Borup, R.5
Tommerup, N.6
-
26
-
-
0030866651
-
Associations between different diagnostic approaches for child and adolescent psychopathology
-
Kasius, M. C., Ferdinand, R. F., Berg, H., & Verhulst, F. C. (1997). Associations between different diagnostic approaches for child and adolescent psychopathology. Journal of Child Psychology and Psychiatry, 38, 625-632.
-
(1997)
Journal of Child Psychology and Psychiatry
, vol.38
, pp. 625-632
-
-
Kasius, M.C.1
Ferdinand, R.F.2
Berg, H.3
Verhulst, F.C.4
-
27
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo, S., Schutte, B.C., Richardson, R. J., Bjork, B.C., Knight, A. S.,Watanabe, Y., . . . Murray, J. C. (2002).Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, 32, 285-289.
-
(2002)
Nature Genetics
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Bjork, B.C.4
Knight, A.S.5
Watanabe, Y.6
Murray, J.C.7
-
28
-
-
84865208871
-
Rate of de novo mutations and the importance of father's age to disease risk
-
Kong, A., Frigge,M. L.,Masson, G., Besenbacher, S., Sulem, P, Magnusson, G., . . . Jonasdottir, A. (2012). Rate of de novo mutations and the importance of father's age to disease risk. Nature, 488, 471-475.
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
Frigge, M.L.2
Masson, G.3
Besenbacher, S.4
Sulem, P.5
Magnusson, G.6
Jonasdottir, A.7
-
29
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., . . . Darvishi, K. (2008). Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nature Genetics, 40, 1253-1260.
-
(2008)
Nature Genetics
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
Wysoker, A.4
Nemesh, J.5
Cawley, S.6
Darvishi, K.7
-
30
-
-
84922493067
-
Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder
-
Laplana, M., Royo, J. L., Aluja, A., López, R., Heine-Sunyer, D., & Fibla, J. (2014). Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder. Case Reports in Genetics 2014, vol. 2014, Article ID 516529, 9 pages.
-
(2014)
Case Reports in Genetics 2014
, vol.2014
-
-
Laplana, M.1
Royo, J.L.2
Aluja, A.3
López, R.4
Heine-Sunyer, D.5
Fibla, J.6
-
31
-
-
79952117877
-
Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation
-
Lasa, A., y Cajal, T. R., Llort, G., Suela, J., Cigudosa, J., Cornet, M., . . . Baiget,M. (2010). Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation. Breast Cancer Research and Treatment, 123, 901-905.
-
(2010)
Breast Cancer Research and Treatment
, vol.123
, pp. 901-905
-
-
Lasa, A.1
Cajal, T.R.2
Llort, G.3
Suela, J.4
Cigudosa, J.5
Cornet, M.6
Baiget, M.7
-
32
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
Lupski, J. R. (2007). Genomic rearrangements and sporadic disease. Nature Genetics, 39, S43-S47.
-
(2007)
Nature Genetics
, vol.39
, pp. S43-S47
-
-
Lupski, J.R.1
-
33
-
-
79952289176
-
Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: Studies on two families with MZD twins for schizophrenia
-
Maiti, S., Kumar, K. H. B. G., Castellani, C. A., O'Reilly, R., & Singh, S. M. (2011). Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One, 6, e17125.
-
(2011)
PLoS One
, vol.6
-
-
Maiti, S.1
Kumar, K.H.B.G.2
Castellani, C.A.3
O'Reilly, R.4
Singh, S.M.5
-
34
-
-
84879255961
-
Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome
-
Miyake, K., Yang, C., Minakuchi, Y., Ohori, K., Soutome, M, Hirasawa, T, . . . Itoh, M. (2013). Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome. PLoS One, 8, e66729.
-
(2013)
PLoS One
, vol.8
-
-
Miyake, K.1
Yang, C.2
Minakuchi, Y.3
Ohori, K.4
Soutome, M.5
Hirasawa, T.6
Itoh, M.7
-
35
-
-
0032856150
-
Predicting DSM-III-R Disorders from the Youth Self-Report: Analysis of data from a field study
-
Morgan, C. J., & Cauce, A. (1999). Predicting DSM-III-R Disorders from the Youth Self-Report: Analysis of data from a field study. Journal of the American Academy of Child & Adolescent Psychiatry, 38, 1237-1245.
-
(1999)
Journal of the American Academy of Child & Adolescent Psychiatry
, vol.38
, pp. 1237-1245
-
-
Morgan, C.J.1
Cauce, A.2
-
36
-
-
77958104373
-
Failure to confirm CNVs as of etiological significance in twin pairs discordant for schizophrenia
-
Ono, S., Imamura, A., Tasaki, S., Kurotaki, N., Ozawa, H., Yoshiura, K.-I., . . . Okazaki, Y. (2010). Failure to confirm CNVs as of etiological significance in twin pairs discordant for schizophrenia. Twin Research and Human Genetics, 13, 455-460.
-
(2010)
Twin Research and Human Genetics
, vol.13
, pp. 455-460
-
-
Ono, S.1
Imamura, A.2
Tasaki, S.3
Kurotaki, N.4
Ozawa, H.5
Yoshiura, K.-I.6
Okazaki, Y.7
-
37
-
-
79960983213
-
Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
-
Pamphlett, R., &Morahan, J. M. (2011). Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis. Journal of Clinical Neuroscience, 18, 1231-1234.
-
(2011)
Journal of Clinical Neuroscience
, vol.18
, pp. 1231-1234
-
-
Pamphlett, R.1
Morahan, J.M.2
-
38
-
-
51549095601
-
Somatic mosaicism for copy number variation in differentiated human tissues
-
Piotrowski, A., Bruder, C. E., Andersson, R., Diaz de Stahl, T., Menzel, U., Sandgren, J., . . . Dumanski, J. P. (2008). Somatic mosaicism for copy number variation in differentiated human tissues. Human Mutation, 29, 1118-1124.
-
(2008)
Human Mutation
, vol.29
, pp. 1118-1124
-
-
Piotrowski, A.1
Bruder, C.E.2
Andersson, R.3
Diaz De Stahl, T.4
Menzel, U.5
Sandgren, J.6
Dumanski, J.P.7
-
39
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., . . . Daly, M. J. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. The American Journal ofHuman Genetics, 81, 559-575.
-
(2007)
The American Journal of Human Genetics
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Daly, M.J.7
-
40
-
-
78049450213
-
Accurately assessing the risk of schizophrenia conferred by rare copy number variation affecting genes with brain function
-
Raychaudhuri, S., Korn, J. M., McCarroll, S. A., Altshuler, D., Sklar, P., Purcell, S., . . . Consortium, IS. (2010). Accurately assessing the risk of schizophrenia conferred by rare copy number variation affecting genes with brain function. PLoS Genetics, 6, e1001097.
-
(2010)
PLoS Genetics
, vol.6
-
-
Raychaudhuri, S.1
Korn, J.M.2
McCarroll, S.A.3
Altshuler, D.4
Sklar, P.5
Purcell, S.6
-
41
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., . . . Chen, W. (2006). Global variation in copy number in the human genome. Nature, 444, 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Chen, W.7
-
42
-
-
84862908315
-
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
-
Reumers, J., De Rijk, P., Zhao, H., Liekens, A., Smeets, D., Cleary, J., . . . Del-Favero, J. (2012). Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nature Biotechnology, 30, 61-68.
-
(2012)
Nature Biotechnology
, vol.30
, pp. 61-68
-
-
Reumers, J.1
De Rijk, P.2
Zhao, H.3
Liekens, A.4
Smeets, D.5
Cleary, J.6
Del-Favero, J.7
-
43
-
-
0032978357
-
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
-
Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen,N., Burge, S., Monk, S., . . . Hovnanian, A. (1999). Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nature Genetics, 21, 271-277.
-
(1999)
Nature Genetics
, vol.21
, pp. 271-277
-
-
Sakuntabhai, A.1
Ruiz-Perez, V.2
Carter, S.3
Jacobsen, N.4
Burge, S.5
Monk, S.6
Hovnanian, A.7
-
44
-
-
79958118184
-
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: Discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
-
Sasaki, H., Emi, M., Iijima, H., Ito, N., Sato, H., Yabe, I., . . . Matsubara, K. (2011).Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: Discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Molecular Brain, 4, 24.
-
(2011)
Molecular Brain
, vol.4
, pp. 24
-
-
Sasaki, H.1
Emi, M.2
Iijima, H.3
Ito, N.4
Sato, H.5
Yabe, I.6
Matsubara, K.7
-
45
-
-
84874045407
-
Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association
-
Solomon, B., Pineda-Alvarez, D., Hadley, D., Hansen, N., Kamat, A., Donovan, F., . . . Mullikin, J. (2012). Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association. Molecular Syndromology, 4, 27-31.
-
(2012)
Molecular Syndromology
, vol.4
, pp. 27-31
-
-
Solomon, B.1
Pineda-Alvarez, D.2
Hadley, D.3
Hansen, N.4
Kamat, A.5
Donovan, F.6
Mullikin, J.7
-
46
-
-
84892620880
-
CNVs conferring risk of autism or schizophrenia affect cognition in controls
-
Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., . . . Doyle, O. M. (2014). CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature, 505, 361-366.
-
(2014)
Nature
, vol.505
, pp. 361-366
-
-
Stefansson, H.1
Meyer-Lindenberg, A.2
Steinberg, S.3
Magnusdottir, B.4
Morgen, K.5
Arnarsdottir, S.6
Doyle, O.M.7
-
47
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P., Ingason, A., Steinberg, S., . . . Buizer-Voskamp, J. E. (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
Pietiläinen, O.P.4
Ingason, A.5
Steinberg, S.6
Buizer-Voskamp, J.E.7
-
48
-
-
77957365024
-
Timing of de novomutagenesis-A twin study of sodium-channel mutations
-
Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., . . . Berkovic, S. F. (2010). Timing of de novomutagenesis-A twin study of sodium-channel mutations. The New England Journal of Medicine, 363, 1335-1340.
-
(2010)
The New England Journal of Medicine
, vol.363
, pp. 1335-1340
-
-
Vadlamudi, L.1
Dibbens, L.M.2
Lawrence, K.M.3
Iona, X.4
McMahon, J.M.5
Murrell, W.6
Berkovic, S.F.7
-
49
-
-
84873937105
-
The Young Netherlands Twin Register (YNTR): Longitudinal twin and family studies in over 70,000 children
-
van Beijsterveldt, C. E., Groen-Blokhuis, M., Hottenga, J. J., Frani'c, S., Hudziak, J. J., Lamb, D., . . . Schutte, N. (2013). The Young Netherlands Twin Register (YNTR): Longitudinal twin and family studies in over 70,000 children. Twin Research and Human Genetics, 16, 252-267.
-
(2013)
Twin Research and Human Genetics
, vol.16
, pp. 252-267
-
-
Van Beijsterveldt, C.E.1
Groen-Blokhuis, M.2
Hottenga, J.J.3
Frani'C, S.4
Hudziak, J.J.5
Lamb, D.6
Schutte, N.7
-
50
-
-
16844371343
-
Frequency of new copy number variation in humans
-
van Ommen, G.-J. B. (2005). Frequency of new copy number variation in humans. Nature Genetics, 37, 333-334.
-
(2005)
Nature Genetics
, vol.37
, pp. 333-334
-
-
Van Ommen, G.-J.B.1
-
51
-
-
84857194005
-
Copynumberdetection in discordantmonozygotic twins of congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) cohorts
-
Veenma, D., Brosens, E., de Jong, E., van de Ven, C.,Meeussen, C.,Cohen-Overbeek,T., . . . Tibboel,D. (2012).Copynumberdetection in discordantmonozygotic twins of congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) cohorts. European Journal of Human Genetics, 20, 298-304.
-
(2012)
European Journal of Human Genetics
, vol.20
, pp. 298-304
-
-
Veenma, D.1
Brosens, E.2
De Jong, E.3
Van De Ven, C.4
Meeussen, C.5
Cohen-Overbeek, T.6
Tibboel, D.7
-
52
-
-
35948984173
-
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang, K., Li,M.,Hadley,D., Lium, R., Glessner, J.,Grant, S. F., . . . Bucan, M. (2007). PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Research, 17, 1665-1674.
-
(2007)
Genome Research
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Lium, R.4
Glessner, J.5
Grant, S.F.6
Bucan, M.7
-
53
-
-
77649235168
-
Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution
-
Weaver, S., Dube, S., Mir, A., Qin, J., Sun, G., Ramakrishnan, R., . . . Livak, K. J. (2010). Taking qPCR to a higher level: analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution. Methods, 50, 271-276.
-
(2010)
Methods
, vol.50
, pp. 271-276
-
-
Weaver, S.1
Dube, S.2
Mir, A.3
Qin, J.4
Sun, G.5
Ramakrishnan, R.6
Livak, K.J.7
-
54
-
-
77953719116
-
The Netherlands Twin Register biobank: A resource for genetic epidemiological studies
-
Willemsen, G., De Geus, E. J., Bartels, M., Van Beijsterveldt, C., Brooks, A. I., Estourgie-van Burk, G. F., . . . Kluft, K. (2010). The Netherlands Twin Register biobank: A resource for genetic epidemiological studies. Twin Research and Human Genetics, 13, 231-245.
-
(2010)
Twin Research and Human Genetics
, vol.13
, pp. 231-245
-
-
Willemsen, G.1
De Geus, E.J.2
Bartels, M.3
Van Beijsterveldt, C.4
Brooks, A.I.5
Estourgie-van Burk, G.F.6
Kluft, K.7
-
55
-
-
84873901396
-
The Adult Netherlands Twin Register: Twenty-five years of survey and biological data collection
-
Willemsen, G., Vink, J.M., Abdellaoui, A., den Braber, A., van Beek, J.H., Draisma, H.H., . . . van Lien, R. (2013). The Adult Netherlands Twin Register: Twenty-five years of survey and biological data collection. Twin Research and Human Genetics, 16, 271-281.
-
(2013)
Twin Research and Human Genetics
, vol.16
, pp. 271-281
-
-
Willemsen, G.1
Vink, J.M.2
Abdellaoui, A.3
Den Braber, A.4
Van Beek, J.H.5
Draisma, H.H.6
Van Lien, R.7
-
56
-
-
78049303903
-
Rare chromosomal deletions and duplications in attention deficit hyperactivity disorder: A genome-wide analysis
-
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., . . . Gudmundsson, O. O. (2010). Rare chromosomal deletions and duplications in attention deficit hyperactivity disorder: A genome-wide analysis. The Lancet, 376, 1401-1408.
-
(2010)
The Lancet
, vol.376
, pp. 1401-1408
-
-
Williams, N.M.1
Zaharieva, I.2
Martin, A.3
Langley, K.4
Mantripragada, K.5
Gudmundsson, O.O.6
-
57
-
-
84888861117
-
Aging as accelerated accumulation of somatic variants: Whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs
-
Ye, K., Beekman, M., Lameijer, E.W., Zhang, Y., Moed, M. H., van den Akker, E. B., . . . Slagboom, P. E. (2013). Aging as accelerated accumulation of somatic variants: Whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs. Twin Research and Human Genetics, 16, 1026-1032.
-
(2013)
Twin Research and Human Genetics
, vol.16
, pp. 1026-1032
-
-
Ye, K.1
Beekman, M.2
Lameijer, E.W.3
Zhang, Y.4
Moed, M.H.5
Van Den Akker, E.B.6
Slagboom, P.E.7
-
58
-
-
79251545821
-
Accuracy of CNV detection from GWAS data
-
Zhang, D., Qian, Y., Akula, N., Alliey-Rodriguez, N., Tang, J., Gershon, E. S., . . . Liu, C. (2011). Accuracy of CNV detection from GWAS data. PLoS One, 6, e14511.
-
(2011)
PLoS One
, vol.6
-
-
Zhang, D.1
Qian, Y.2
Akula, N.3
Alliey-Rodriguez, N.4
Tang, J.5
Gershon, E.S.6
Liu, C.7
-
59
-
-
33645450956
-
Analysis of the DNA sequence and duplication history of human chromosome 15
-
Zody, M.C., Garber, M., Sharpe, T., Young, S.K., Rowen, L., O'Neill, K., . . . Cuomo, C. A. (2006). Analysis of the DNA sequence and duplication history of human chromosome 15. Nature, 440, 671-675.
-
(2006)
Nature
, vol.440
, pp. 671-675
-
-
Zody, M.C.1
Garber, M.2
Sharpe, T.3
Young, S.K.4
Rowen, L.5
O'Neill, K.6
Cuomo, C.A.7
|