-
1
-
-
84870469320
-
-
American Psychiatric Association Task Force on DSM-IV Washington, DC: American Psychiatric Association 4
-
American Psychiatric Association, Task Force on DSM-IV, Diagnostic and statistical manual of mental disorders: DSM-IV-TR Washington, DC: American Psychiatric Association 4 2000
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders: DSM-IV-TR
-
-
-
2
-
-
84859394070
-
Prevalence of autism spectrum disorders - Autism and developmental disabilities monitoring network, 14 sites, United States, 2008
-
Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2008. Jon Baio E, Centers Dis Contr Prev 2012 61 1 19
-
(2012)
Centers Dis Contr Prev
, vol.61
, pp. 1-19
-
-
Jon Baio, E.1
-
3
-
-
34147168331
-
The lifetime distribution of the incremental societal costs of autism
-
10.1001/archpedi.161.4.343 17404130
-
The lifetime distribution of the incremental societal costs of autism. Ganz ML, Arch Pediatr Adolesc Med 2007 161 343 349 10.1001/archpedi.161.4.343 17404130
-
(2007)
Arch Pediatr Adolesc Med
, vol.161
, pp. 343-349
-
-
Ganz, M.L.1
-
4
-
-
78349293844
-
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood
-
10.1176/appi.ajp.2010.10020223 20686188
-
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Lichtenstein P, Carlstrom E, Rastam M, Gillberg C, Anckarsater H, Am J Psychiatry 2010 167 1357 1363 10.1176/appi.ajp.2010.10020223 20686188
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1357-1363
-
-
Lichtenstein, P.1
Carlstrom, E.2
Rastam, M.3
Gillberg, C.4
Anckarsater, H.5
-
5
-
-
65449184161
-
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
-
10.1111/j.1469-1809.2009.00523.x 19456320
-
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA, Ann Hum Genet 2009 73 263 273 10.1111/j.1469-1809.2009.00523.x 19456320
-
(2009)
Ann Hum Genet
, vol.73
, pp. 263-273
-
-
Ma, D.1
Salyakina, D.2
Jaworski, J.M.3
Konidari, I.4
Whitehead, P.L.5
Andersen, A.N.6
Hoffman, J.D.7
Slifer, S.H.8
Hedges, D.J.9
Cukier, H.N.10
Griswold, A.J.11
McCauley, J.L.12
Beecham, G.W.13
Wright, H.H.14
Abramson, R.K.15
Martin, E.R.16
Hussman, J.P.17
Gilbert, J.R.18
Cuccaro, M.L.19
Haines, J.L.20
Pericak-Vance, M.A.21
more..
-
6
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
10.1038/nature07999 19404256
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Nature 2009 459 528 533 10.1038/nature07999 19404256
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
Bucan, M.4
Glessner, J.T.5
Abrahams, B.S.6
Salyakina, D.7
Imielinski, M.8
Bradfield, J.P.9
Sleiman, P.M.10
Kim, C.E.11
Hou, C.12
Frackelton, E.13
Chiavacci, R.14
Takahashi, N.15
Sakurai, T.16
Rappaport, E.17
Lajonchere, C.M.18
Munson, J.19
Estes, A.20
Korvatska, O.21
Piven, J.22
Sonnenblick, L.I.23
Alvarez Retuerto, A.I.24
Herman, E.I.25
Dong, H.26
Hutman, T.27
Sigman, M.28
Ozonoff, S.29
Klin, A.30
more..
-
7
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
10.1038/nature08490 19812673
-
A genome-wide linkage and association scan reveals novel loci for autism. Weiss LA, Arking DE, Daly MJ, Chakravarti A, Nature 2009 461 802 808 10.1038/nature08490 19812673
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
8
-
-
77957735529
-
A genome-wide scan for common alleles affecting risk for autism
-
10.1093/hmg/ddq307 20663923
-
A genome-wide scan for common alleles affecting risk for autism. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Hum Mol Genet 2010 19 4072 4082 10.1093/hmg/ddq307 20663923
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Regan, R.4
Conroy, J.5
Magalhaes, T.R.6
Correia, C.7
Abrahams, B.S.8
Sykes, N.9
Pagnamenta, A.T.10
Almeida, J.11
Bacchelli, E.12
Bailey, A.J.13
Baird, G.14
Battaglia, A.15
Berney, T.16
Bolshakova, N.17
Bolte, S.18
Bolton, P.F.19
Bourgeron, T.20
Brennan, S.21
Brian, J.22
Carson, A.R.23
Casallo, G.24
Casey, J.25
Chu, S.H.26
Cochrane, L.27
Corsello, C.28
Crawford, E.L.29
Crossett, A.30
more..
-
9
-
-
84867829870
-
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
-
10.1093/hmg/dds301 22843504
-
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, De Jonge M, Delorme R, Duketis E, Dugue F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Hum Mol Genet 2012 21 4781 4792 10.1093/hmg/dds301 22843504
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4781-4792
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Almeida, J.4
Bacchelli, E.5
Baird, G.6
Bolshakova, N.7
Bolte, S.8
Bolton, P.F.9
Bourgeron, T.10
Brennan, S.11
Brian, J.12
Casey, J.13
Conroy, J.14
Correia, C.15
Corsello, C.16
Crawford, E.L.17
De Jonge, M.18
Delorme, R.19
Duketis, E.20
Dugue, F.21
Estes, A.22
Farrar, P.23
Fernandez, B.A.24
Folstein, S.E.25
Fombonne, E.26
Gilbert, J.27
Gillberg, C.28
Glessner, J.T.29
Green, A.30
more..
-
10
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
10.1038/nature07953 19404257
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Nature 2009 459 569 573 10.1038/nature07953 19404257
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
Imielinski, M.11
Frackelton, E.C.12
Reichert, J.13
Crawford, E.L.14
Munson, J.15
Sleiman, P.M.16
Chiavacci, R.17
Annaiah, K.18
Thomas, K.19
Hou, C.20
Glaberson, W.21
Flory, J.22
Otieno, F.23
Garris, M.24
Soorya, L.25
Klei, L.26
Piven, J.27
Meyer, K.J.28
Anagnostou, E.29
Sakurai, T.30
more..
-
11
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
10.1038/nature09146 20531469
-
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, Nature 2010 466 368 372 10.1038/nature09146 20531469
-
(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
more..
-
12
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
10.1126/science.1138659 17363630
-
Strong association of de novo copy number mutations with autism. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Science 2007 316 445 449 10.1126/science.1138659 17363630
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
Leotta, A.11
Pai, D.12
Zhang, R.13
Lee, Y.H.14
Hicks, J.15
Spence, S.J.16
Lee, A.T.17
Puura, K.18
Lehtimaki, T.19
Ledbetter, D.20
Gregersen, P.K.21
Bregman, J.22
Sutcliffe, J.S.23
Jobanputra, V.24
Chung, W.25
Warburton, D.26
King, M.C.27
Skuse, D.28
Geschwind, D.H.29
Gilliam, T.C.30
more..
-
13
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
10.1016/j.neuron.2011.05.002 21658581
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilquvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, Neuron 2011 70 863 885 10.1016/j.neuron.2011.05.002 21658581
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
Moreno-De-Luca, D.6
Chu, S.H.7
Moreau, M.P.8
Gupta, A.R.9
Thomson, S.A.10
Mason, C.E.11
Bilquvar, K.12
Celestino-Soper, P.B.13
Choi, M.14
Crawford, E.L.15
Davis, L.16
Wright, N.R.17
Dhodapkar, R.M.18
Dicola, M.19
Dilullo, N.M.20
Fernandez, T.V.21
Fielding-Singh, V.22
Fishman, D.O.23
Frahm, S.24
Garagaloyan, R.25
Goh, G.S.26
Kammela, S.27
Klei, L.28
Lowe, J.K.29
Lund, S.C.30
more..
-
14
-
-
72849144434
-
Sequencing technologies - The next generation
-
10.1038/nrg2626 19997069
-
Sequencing technologies-the next generation. Metzker ML, Nat Rev Genet 2010 11 31 46 10.1038/nrg2626 19997069
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
15
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
10.1038/nrg3031 21946919
-
Exome sequencing as a tool for Mendelian disease gene discovery. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J, Nat Rev Genet 2011 12 745 755 10.1038/nrg3031 21946919
-
(2011)
Nat Rev Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
16
-
-
80052838640
-
Unlocking Mendelian disease using exome sequencing
-
10.1186/gb-2011-12-9-228 21920049
-
Unlocking Mendelian disease using exome sequencing. Gilissen C, Hoischen A, Brunner HG, Veltman JA, Genome Biol 2011 12 228 10.1186/gb-2011-12-9-228 21920049
-
(2011)
Genome Biol
, vol.12
, pp. 228
-
-
Gilissen, C.1
Hoischen, A.2
Brunner, H.G.3
Veltman, J.A.4
-
17
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
10.1038/ng.835 21572417
-
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, Nat Genet 2011 43 585 589 10.1038/ng.835 21572417
-
(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
-
18
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
10.1038/nature10989 22495309
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Maliq M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE, Nature 2012 485 246 250 10.1038/nature10989 22495309
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
Coe, B.P.6
Levy, R.7
Ko, A.8
Lee, C.9
Smith, J.D.10
Turner, E.H.11
Stanaway, I.B.12
Vernot, B.13
Maliq, M.14
Baker, C.15
Reilly, B.16
Akey, J.M.17
Borenstein, E.18
Rieder, M.J.19
Nickerson, D.A.20
Bernier, R.21
Shendure, J.22
Eichler, E.E.23
more..
-
19
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
10.1038/nature10945 22495306
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilquvar K, Mane SM, Sestan N, Lifton RP, Gunel M, Roeder K, Geschwind DH, Devlin B, State MW, Nature 2012 485 237 241 10.1038/nature10945 22495306
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
Murdoch, J.D.4
Raubeson, M.J.5
Willsey, A.J.6
Ercan-Sencicek, A.G.7
Dilullo, N.M.8
Parikshak, N.N.9
Stein, J.L.10
Walker, M.F.11
Ober, G.T.12
Teran, N.A.13
Song, Y.14
El-Fishawy, P.15
Murtha, R.C.16
Choi, M.17
Overton, J.D.18
Bjornson, R.D.19
Carriero, N.J.20
Meyer, K.A.21
Bilquvar, K.22
Mane, S.M.23
Sestan, N.24
Lifton, R.P.25
Gunel, M.26
Roeder, K.27
Geschwind, D.H.28
Devlin, B.29
State, M.W.30
more..
-
20
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
10.1038/nature11011 22495311
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Nature 2012 485 242 245 10.1038/nature11011 22495311
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'Ayan, A.4
Samocha, K.E.5
Sabo, A.6
Lin, C.F.7
Stevens, C.8
Wang, L.S.9
Makarov, V.10
Polak, P.11
Yoon, S.12
Maguire, J.13
Crawford, E.L.14
Campbell, N.G.15
Geller, E.T.16
Valladares, O.17
Schafer, C.18
Liu, H.19
Zhao, T.20
Cai, G.21
Lihm, J.22
Dannenfelser, R.23
Jabado, O.24
Peralta, Z.25
Nagaswamy, U.26
Muzny, D.27
Reid, J.G.28
Newsham, I.29
Wu, Y.30
more..
-
21
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
10.1016/j.neuron.2012.04.009 22542183
-
De novo gene disruptions in children on the autistic spectrum. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell RB, Neuron 2012 74 285 299 10.1016/j.neuron.2012.04.009 22542183
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
Wang, Z.4
Hakker, I.5
Rosenbaum, J.6
Yamrom, B.7
Lee, Y.H.8
Narzisi, G.9
Leotta, A.10
Kendall, J.11
Grabowska, E.12
Ma, B.13
Marks, S.14
Rodgers, L.15
Stepansky, A.16
Troge, J.17
Andrews, P.18
Bekritsky, M.19
Pradhan, K.20
Ghiban, E.21
Kramer, M.22
Parla, J.23
Demeter, R.24
Fulton, L.L.25
Fulton, R.S.26
Magrini, V.J.27
Ye, K.28
Darnell, R.B.29
more..
-
22
-
-
84865208871
-
Rate of de novo mutations and the importance of father's age to disease risk
-
10.1038/nature11396 22914163
-
Rate of de novo mutations and the importance of father's age to disease risk. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K, Nature 2012 488 471 475 10.1038/nature11396 22914163
-
(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
Gudjonsson, S.A.7
Sigurdsson, A.8
Jonasdottir, A.9
Wong, W.S.10
Sigurdsson, G.11
Walters, G.B.12
Steinberg, S.13
Helgason, H.14
Thorleifsson, G.15
Gudbjartsson, D.F.16
Helgason, A.17
Magnusson, O.T.18
Thorsteinsdottir, U.19
Stefansson, K.20
more..
-
23
-
-
84860347597
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
-
10.1016/j.cell.2012.03.028 22521361
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Cell 2012 149 525 537 10.1016/j.cell.2012.03.028 22521361
-
(2012)
Cell
, vol.149
, pp. 525-537
-
-
Talkowski, M.E.1
Rosenfeld, J.A.2
Blumenthal, I.3
Pillalamarri, V.4
Chiang, C.5
Heilbut, A.6
Ernst, C.7
Hanscom, C.8
Rossin, E.9
Lindgren, A.M.10
Pereira, S.11
Ruderfer, D.12
Kirby, A.13
Ripke, S.14
Harris, D.J.15
Lee, J.H.16
Ha, K.17
Kim, H.G.18
Solomon, B.D.19
Gropman, A.L.20
Lucente, D.21
Sims, K.22
Ohsumi, T.K.23
Borowsky, M.L.24
Loranger, S.25
Quade, B.26
Lage, K.27
Miles, J.28
Wu, B.L.29
Shen, Y.30
more..
-
24
-
-
84872696957
-
Using whole-exome sequencing to identify inherited causes of autism
-
10.1016/j.neuron.2012.11.002 23352163
-
Using whole-exome sequencing to identify inherited causes of autism. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukkades NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Neuron 2013 77 259 273 10.1016/j.neuron.2012.11.002 23352163
-
(2013)
Neuron
, vol.77
, pp. 259-273
-
-
Yu, T.W.1
Chahrour, M.H.2
Coulter, M.E.3
Jiralerspong, S.4
Okamura-Ikeda, K.5
Ataman, B.6
Schmitz-Abe, K.7
Harmin, D.A.8
Adli, M.9
Malik, A.N.10
D'Gama, A.M.11
Lim, E.T.12
Sanders, S.J.13
Mochida, G.H.14
Partlow, J.N.15
Sunu, C.M.16
Felie, J.M.17
Rodriguez, J.18
Nasir, R.H.19
Ware, J.20
Joseph, R.M.21
Hill, R.S.22
Kwan, B.Y.23
Al-Saffar, M.24
Mukkades, N.M.25
Hashmi, A.26
Balkhy, S.27
Gascon, G.G.28
Hisama, F.M.29
Leclair, E.30
more..
-
25
-
-
0034916325
-
The autism genetic resource exchange: A resource for the study of autism and related neuropsychiatric conditions
-
10.1086/321292 11452364
-
The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ, Am J Hum Genet 2001 69 463 466 10.1086/321292 11452364
-
(2001)
Am J Hum Genet
, vol.69
, pp. 463-466
-
-
Geschwind, D.H.1
Sowinski, J.2
Lord, C.3
Iversen, P.4
Shestack, J.5
Jones, P.6
Ducat, L.7
Spence, S.J.8
-
26
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
10.1126/science.1181498 19892942
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Science 2010 327 78 81 10.1126/science.1181498 19892942
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
Kermani, B.G.6
Carnevali, P.7
Nazarenko, I.8
Nilsen, G.B.9
Yeung, G.10
-
27
-
-
0028987725
-
Pairwise end sequencing: A unified approach to genomic mapping and sequencing
-
10.1016/0888-7543(95)80219-C 7601461
-
Pairwise end sequencing: a unified approach to genomic mapping and sequencing. Roach JC, Boysen C, Wang K, Hood L, Genomics 1995 26 345 353 10.1016/0888-7543(95)80219-C 7601461
-
(1995)
Genomics
, vol.26
, pp. 345-353
-
-
Roach, J.C.1
Boysen, C.2
Wang, K.3
Hood, L.4
-
28
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
10.1126/science.1181498 19892942
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Science 2010 327 78 81 10.1126/science.1181498 19892942
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
Kermani, B.G.6
Carnevali, P.7
Nazarenko, I.8
Nilsen, G.B.9
Yeung, G.10
Dahl, F.11
Fernandez, A.12
Staker, B.13
Pant, K.P.14
Baccash, J.15
Borcherding, A.P.16
Brownley, A.17
Cedeno, R.18
Chen, L.19
Chernikoff, D.20
Cheung, A.21
Chirita, R.22
Curson, B.23
Ebert, J.C.24
Hacker, C.R.25
Hartlage, R.26
Hauser, B.27
Huang, S.28
Jiang, Y.29
Karpinchyk, V.30
more..
-
29
-
-
35948984173
-
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
10.1101/gr.6861907 17921354
-
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, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M, Genome Res 2007 17 1665 1674 10.1101/gr.6861907 17921354
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.A.6
Hakonarson, H.7
Bucan, M.8
-
30
-
-
56049110212
-
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
-
10.1093/nar/gkn556 18784189
-
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K, Nucleic Acids Res 2008 36 126 10.1093/nar/gkn556 18784189
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 5126
-
-
Diskin, S.J.1
Li, M.2
Hou, C.3
Yang, S.4
Glessner, J.5
Hakonarson, H.6
Bucan, M.7
Maris, J.M.8
Wang, K.9
-
31
-
-
84866092268
-
Using ERDS to infer copy-number variants in high-coverage genomes
-
10.1016/j.ajhg.2012.07.004 22939633
-
Using ERDS to infer copy-number variants in high-coverage genomes. Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, Goldstein DB, Am J Hum Genet 2012 91 408 421 10.1016/j.ajhg.2012.07.004 22939633
-
(2012)
Am J Hum Genet
, vol.91
, pp. 408-421
-
-
Zhu, M.1
Need, A.C.2
Han, Y.3
Ge, D.4
Maia, J.M.5
Zhu, Q.6
Heinzen, E.L.7
Cirulli, E.T.8
Pelak, K.9
He, M.10
Ruzzo, E.K.11
Gumbs, C.12
Singh, A.13
Feng, S.14
Shianna, K.V.15
Goldstein, D.B.16
-
32
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
10.1093/nar/gkq603 20601685
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Wang K, Li M, Hakonarson H, Nucleic Acids Res 2010 38 164 10.1093/nar/gkq603 20601685
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 5164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
33
-
-
84864294140
-
WANNOVAR: Annotating genetic variants for personal genomes via the web
-
10.1136/jmedgenet-2012-100918 22717648
-
wANNOVAR: annotating genetic variants for personal genomes via the web. Chang X, Wang K, J Med Genet 2012 49 433 436 10.1136/jmedgenet-2012-100918 22717648
-
(2012)
J Med Genet
, vol.49
, pp. 433-436
-
-
Chang, X.1
Wang, K.2
-
34
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
10.1371/journal.pcbi.1001025 21152010
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++. Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S, PLoS Comput Biol 2010 6 1001025 10.1371/journal.pcbi.1001025 21152010
-
(2010)
PLoS Comput Biol
, vol.6
, pp. 51001025
-
-
Davydov, E.V.1
Goode, D.L.2
Sirota, M.3
Cooper, G.M.4
Sidow, A.5
Batzoglou, S.6
-
35
-
-
79955583542
-
Mapping and analysis of chromatin state dynamics in nine human cell types
-
10.1038/nature09906 21441907
-
Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, Kheradpour P, Mikkelsen TS, Shoresh N, Ward LD, Epstein CB, Zhang X, Wang L, Issner R, Coyne M, Ku M, Durham T, Kellis M, Bernstein BE, Nature 2011 473 43 49 10.1038/nature09906 21441907
-
(2011)
Nature
, vol.473
, pp. 43-49
-
-
Ernst, J.1
Kheradpour, P.2
Mikkelsen, T.S.3
Shoresh, N.4
Ward, L.D.5
Epstein, C.B.6
Zhang, X.7
Wang, L.8
Issner, R.9
Coyne, M.10
Ku, M.11
Durham, T.12
Kellis, M.13
Bernstein, B.E.14
-
36
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
10.1038/ng786 11731797
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, Nat Genet 2002 30 97 101 10.1038/ng786 11731797
-
(2002)
Nat Genet
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
37
-
-
0033600187
-
Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex
-
10.1006/bbrc.1999.0894 10381382
-
Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. Suetsugu S, Miki H, Takenawa T, Biochem Biophys Res Commun 1999 260 296 302 10.1006/bbrc.1999. 0894 10381382
-
(1999)
Biochem Biophys Res Commun
, vol.260
, pp. 296-302
-
-
Suetsugu, S.1
Miki, H.2
Takenawa, T.3
-
38
-
-
11144358198
-
A gene atlas of the mouse and human protein-encoding transcriptomes
-
10.1073/pnas.0400782101
-
A gene atlas of the mouse and human protein-encoding transcriptomes. Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, Block D, Zhang J, Soden R, Hayakawa M, Kreiman G, Cooke MP, Walker JR, Hogenesch JB, Proc Natl Acac Sci U S A 2004 101 6062 6067 10.1073/pnas.0400782101
-
(2004)
Proc Natl Acac Sci U S A
, vol.101
, pp. 6062-6067
-
-
Su, A.I.1
Wiltshire, T.2
Batalov, S.3
Lapp, H.4
Ching, K.A.5
Block, D.6
Zhang, J.7
Soden, R.8
Hayakawa, M.9
Kreiman, G.10
Cooke, M.P.11
Walker, J.R.12
Hogenesch, J.B.13
-
39
-
-
33646021647
-
CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues
-
16547280
-
CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues. Kraus DM, Elliott GS, Chute H, Horan T, Pfenninger KH, Sanford SD, Foster S, Scully S, Welcher AA, Holers VM, J Immunol 2006 176 4419 4430 16547280
-
(2006)
J Immunol
, vol.176
, pp. 4419-4430
-
-
Kraus, D.M.1
Elliott, G.S.2
Chute, H.3
Horan, T.4
Pfenninger, K.H.5
Sanford, S.D.6
Foster, S.7
Scully, S.8
Welcher, A.A.9
Holers, V.M.10
-
40
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
Performance comparison of whole-genome sequencing platforms. Lam HY, Clark MJ, Chen R, Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA, Gerstein MB, Butte AJ, Ji HP, Snyder M, Nat Biotechnol 2012 30 78 82
-
(2012)
Nat Biotechnol
, vol.30
, pp. 78-82
-
-
Lam, H.Y.1
Clark, M.J.2
Chen, R.3
Natsoulis, G.4
O'Huallachain, M.5
Dewey, F.E.6
Habegger, L.7
Ashley, E.A.8
Gerstein, M.B.9
Butte, A.J.10
Ji, H.P.11
Snyder, M.12
-
41
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
10.1126/science.1186802 20220176
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ, Science 2010 328 636 639 10.1126/science.1186802 20220176
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
Shendure, J.11
Drmanac, R.12
Jorde, L.B.13
Hood, L.14
Galas, D.J.15
-
42
-
-
84862833585
-
Exome sequencing and unrelated findings in the context of complex disease research: Ethical and clinical implications
-
21794208
-
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K, Discov Med 2011 12 41 55 21794208
-
(2011)
Discov Med
, vol.12
, pp. 41-55
-
-
Lyon, G.J.1
Jiang, T.2
Van Wijk, R.3
Wang, W.4
Bodily, P.M.5
Xing, J.6
Tian, L.7
Robison, R.J.8
Clement, M.9
Lin, Y.10
Zhang, P.11
Liu, Y.12
Moore, B.13
Glessner, J.T.14
Elia, J.15
Reimherr, F.16
Van Solinge, W.W.17
Yandell, M.18
Hakonarson, H.19
Wang, J.20
Johnson, W.E.21
Wei, Z.22
Wang, K.23
more..
-
43
-
-
0025154931
-
Organization, structure, and polymorphisms of the human profilaggrin gene
-
10.1021/bi00492a018 2248957
-
Organization, structure, and polymorphisms of the human profilaggrin gene. Gan SQ, McBride OW, Idler WW, Markova N, Steinert PM, Biochemistry 1990 29 9432 9440 10.1021/bi00492a018 2248957
-
(1990)
Biochemistry
, vol.29
, pp. 9432-9440
-
-
Gan, S.Q.1
McBride, O.W.2
Idler, W.W.3
Markova, N.4
Steinert, P.M.5
-
44
-
-
33644622891
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
-
10.1038/ng1743 16444271
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH, Nat Genet 2006 38 337 342 10.1038/ng1743 16444271
-
(2006)
Nat Genet
, vol.38
, pp. 337-342
-
-
Smith, F.J.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
Sandilands, A.4
Campbell, L.E.5
Zhao, Y.6
Liao, H.7
Evans, A.T.8
Goudie, D.R.9
Lewis-Jones, S.10
Arseculeratne, G.11
Munro, C.S.12
Sergeant, A.13
O'Regan, G.14
Bale, S.J.15
Compton, J.G.16
Digiovanna, J.J.17
Presland, R.B.18
Fleckman, P.19
McLean, W.H.20
more..
-
45
-
-
34247578168
-
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
-
10.1038/ng2020 17417636
-
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke R, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD, Nat Genet 2007 39 650 654 10.1038/ng2020 17417636
-
(2007)
Nat Genet
, vol.39
, pp. 650-654
-
-
Sandilands, A.1
Terron-Kwiatkowski, A.2
Hull, P.R.3
O'Regan, G.M.4
Clayton, T.H.5
Watson, R.M.6
Carrick, T.7
Evans, A.T.8
Liao, H.9
Zhao, Y.10
Campbell, L.E.11
Schmuth, M.12
Gruber, R.13
Janecke, R.14
Elias, P.M.15
Van Steensel, M.A.16
Nagtzaam, I.17
Van Geel, M.18
Steijlen, P.M.19
Munro, C.S.20
Bradley, D.G.21
Palmer, C.N.22
Smith, F.J.23
McLean, W.H.24
Irvine, A.D.25
more..
-
46
-
-
0142103315
-
Trichohyalin mechanically strengthens the hair follicle: Multiple cross-bridging roles in the inner root shealth
-
10.1074/jbc.M302037200 12853460
-
Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth. Steinert PM, Parry DA, Marekov LN, J Biol Chem 2003 278 41409 41419 10.1074/jbc.M302037200 12853460
-
(2003)
J Biol Chem
, vol.278
, pp. 41409-41419
-
-
Steinert, P.M.1
Parry, D.A.2
Marekov, L.N.3
-
47
-
-
33745232796
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
-
10.1086/505332 16773578
-
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB, Am J Hum Genet 2006 79 169 173 10.1086/505332 16773578
-
(2006)
Am J Hum Genet
, vol.79
, pp. 169-173
-
-
McDaniell, R.1
Warthen, D.M.2
Sanchez-Lara, P.A.3
Pai, A.4
Krantz, I.D.5
Piccoli, D.A.6
Spinner, N.B.7
-
48
-
-
79953197889
-
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
-
10.1038/ng.779 21378985
-
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC, Nat Genet 2011 43 303 305 10.1038/ng.779 21378985
-
(2011)
Nat Genet
, vol.43
, pp. 303-305
-
-
Simpson, M.A.1
Irving, M.D.2
Asilmaz, E.3
Gray, M.J.4
Dafou, D.5
Elmslie, F.V.6
Mansour, S.7
Holder, S.E.8
Brain, C.E.9
Burton, B.K.10
Kim, K.H.11
Pauli, R.M.12
Aftimos, S.13
Stewart, H.14
Kim, C.A.15
Holder-Espinasse, M.16
Robertson, S.P.17
Drake, W.M.18
Trembath, R.C.19
-
49
-
-
79953168016
-
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
-
10.1038/ng.778 21378989
-
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cornier-Daire V, Redon R, Le Ciagnec C, Nat Genet 2011 43 306 308 10.1038/ng.778 21378989
-
(2011)
Nat Genet
, vol.43
, pp. 306-308
-
-
Isidor, B.1
Lindenbaum, P.2
Pichon, O.3
Bezieau, S.4
Dina, C.5
Jacquemont, S.6
Martin-Coignard, D.7
Thauvin-Robinet, C.8
Le Merrer, M.9
Mandel, J.L.10
David, A.11
Faivre, L.12
Cornier-Daire, V.13
Redon, R.14
Le Ciagnec, C.15
-
50
-
-
0036122849
-
Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis
-
10.1007/s00294-001-0269-4 11935223
-
Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis. Eschrich D, Buchhaupt M, Kotter P, Entian KD, Curr Genet 2002 40 326 338 10.1007/s00294-001-0269-4 11935223
-
(2002)
Curr Genet
, vol.40
, pp. 326-338
-
-
Eschrich, D.1
Buchhaupt, M.2
Kotter, P.3
Entian, K.D.4
-
51
-
-
19944429247
-
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3
-
10.1002/ajmg.a.30420 15578624
-
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T, Am J Med Genet A 2005 132A 136 143 10.1002/ajmg.a.30420 15578624
-
(2005)
Am J Med Genet A
, vol.132
, pp. 136-143
-
-
Lamont, R.E.1
Loredo-Osti, J.2
Roslin, N.M.3
Mauthe, J.4
Coghlan, G.5
Nylen, E.6
Frappier, D.7
Innes, A.M.8
Lemire, E.G.9
Lowry, R.B.10
Greenberg, C.R.11
Triggs-Raine, B.L.12
Morgan, K.13
Wrogemann, K.14
Fujiwara, T.M.15
Zelinski, T.16
-
52
-
-
0034705117
-
Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin
-
10.1073/pnas.97.11.5919
-
Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin. Flory MR, Moser MJ, Monnat RJ Jr, Davis TN, Proc Natl Acac Sci U S A 2000 97 5919 5923 10.1073/pnas.97.11.5919
-
(2000)
Proc Natl Acac Sci U S A
, vol.97
, pp. 5919-5923
-
-
Flory, M.R.1
Moser, M.J.2
Monnat Jr., R.J.3
Davis, T.N.4
-
53
-
-
38949087294
-
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
-
10.1126/science.1151174 18174396
-
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dorr HG, Reis A, Science 2008 319 816 819 10.1126/science.1151174 18174396
-
(2008)
Science
, vol.319
, pp. 816-819
-
-
Rauch, A.1
Thiel, C.T.2
Schindler, D.3
Wick, U.4
Crow, Y.J.5
Ekici, A.B.6
Van Essen, A.J.7
Goecke, T.O.8
Al-Gazali, L.9
Chrzanowska, K.H.10
Zweier, C.11
Brunner, H.G.12
Becker, K.13
Curry, C.J.14
Dallapiccola, B.15
Devriendt, K.16
Dorfler, A.17
Kinning, E.18
Megarbane, A.19
Meinecke, P.20
Semple, R.K.21
Spranger, S.22
Toutain, A.23
Trembath, R.C.24
Voss, E.25
Wilson, L.26
Hennekam, R.27
De Zegher, F.28
Dorr, H.G.29
Reis, A.30
more..
-
54
-
-
79955666388
-
Hornerin is a component of the epidermal cornified cell envelopes
-
10.1096/fj.10-168658 21282207
-
Hornerin is a component of the epidermal cornified cell envelopes. Henry J, Hsu CY, Haftek M, Nachat R, de Koning HD, Gardinal-Galera I, Hitomi K, Balica S, Jean-Decoster C, Schmitt AM, Paul C, Serre G, Simon M, FASEB J 2011 25 1567 1576 10.1096/fj.10-168658 21282207
-
(2011)
FASEB J
, vol.25
, pp. 1567-1576
-
-
Henry, J.1
Hsu, C.Y.2
Haftek, M.3
Nachat, R.4
De Koning, H.D.5
Gardinal-Galera, I.6
Hitomi, K.7
Balica, S.8
Jean-Decoster, C.9
Schmitt, A.M.10
Paul, C.11
Serre, G.12
Simon, M.13
-
55
-
-
67349252610
-
A common variant on chromosome 11q13 is associated with atopic dermatitis
-
10.1038/ng.347 19349984
-
A common variant on chromosome 11q13 is associated with atopic dermatitis. Esparza-Gordillo J, Weidinger S, Folster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illiq T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A, Nat Genet 2009 41 596 601 10.1038/ng.347 19349984
-
(2009)
Nat Genet
, vol.41
, pp. 596-601
-
-
Esparza-Gordillo, J.1
Weidinger, S.2
Folster-Holst, R.3
Bauerfeind, A.4
Ruschendorf, F.5
Patone, G.6
Rohde, K.7
Marenholz, I.8
Schulz, F.9
Kerscher, T.10
Hubner, N.11
Wahn, U.12
Schreiber, S.13
Franke, A.14
Vogler, R.15
Heath, S.16
Baurecht, H.17
Novak, N.18
Rodriguez, E.19
Illiq, T.20
Lee-Kirsch, M.A.21
Ciechanowicz, A.22
Kurek, M.23
Piskackova, T.24
MacEk, M.25
Lee, Y.A.26
Ruether, A.27
more..
-
56
-
-
84872722295
-
Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders
-
10.1016/j.neuron.2012.12.029 23352160
-
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, Macarthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, Neuron 2013 77 235 242 10.1016/j.neuron.2012.12.029 23352160
-
(2013)
Neuron
, vol.77
, pp. 235-242
-
-
Lim, E.T.1
Raychaudhuri, S.2
Sanders, S.J.3
Stevens, C.4
Sabo, A.5
MacArthur, D.G.6
Neale, B.M.7
Kirby, A.8
Ruderfer, D.M.9
Fromer, M.10
Lek, M.11
Liu, L.12
Flannick, J.13
Ripke, S.14
Nagaswamy, U.15
Muzny, D.16
Reid, J.G.17
Hawes, A.18
Newsham, I.19
Wu, Y.20
Lewis, L.21
Dinh, H.22
Gross, S.23
Wang, L.S.24
Lin, C.F.25
Valladares, O.26
Gabriel, S.B.27
Depristo, M.28
Altshuler, D.M.29
Purcell, S.M.30
more..
-
57
-
-
77955983296
-
Sporadic cases are the norm for complex disease
-
10.1038/ejhg.2009.177 19826454
-
Sporadic cases are the norm for complex disease. Yang J, Visscher PM, Wray NR, Eur J Hum Genet 2010 18 1039 1043 10.1038/ejhg.2009.177 19826454
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1039-1043
-
-
Yang, J.1
Visscher, P.M.2
Wray, N.R.3
-
58
-
-
84862777863
-
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
-
10.1038/ng.1108 22344220
-
Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Lee SH, DeCandia TR, Ripke S, Yang J, Sullivan PF, Goddard ME, Keller MC, Visscher PM, Wray NR, Nat Genet 2012 44 247 250 10.1038/ng.1108 22344220
-
(2012)
Nat Genet
, vol.44
, pp. 247-250
-
-
Lee, S.H.1
Decandia, T.R.2
Ripke, S.3
Yang, J.4
Sullivan, P.F.5
Goddard, M.E.6
Keller, M.C.7
Visscher, P.M.8
Wray, N.R.9
-
59
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
10.1038/nprot.2009.86 19561590
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Kumar P, Henikoff S, Ng PC, Nat Protoc 2009 4 1073 1081 10.1038/nprot.2009.86 19561590
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
60
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
10.1038/nmeth0410-248 20354512
-
A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR, Nat Methods 2010 7 248 249 10.1038/nmeth0410-248 20354512
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
62
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
19131956
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. da Huang W, Sherman BT, Lempicki RA, Nat Protoc 2009 4 44 57 19131956
-
(2009)
Nat Protoc
, vol.4
, pp. 44-57
-
-
Da Huang, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
63
-
-
50449089356
-
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
-
10.1038/ng.209 18711365
-
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Nat Genet 2008 40 1056 1058 10.1038/ng.209 18711365
-
(2008)
Nat Genet
, vol.40
, pp. 1056-1058
-
-
Ferreira, M.A.1
O'Donovan, M.C.2
Meng, Y.A.3
Jones, I.R.4
Ruderfer, D.M.5
Jones, L.6
Fan, J.7
Kirov, G.8
Perlis, R.H.9
Green, E.K.10
Smoller, J.W.11
Grozeva, D.12
Stone, J.13
Nikolov, I.14
Chambert, K.15
Hamshere, M.L.16
Nimgaonkar, V.L.17
Moskvina, V.18
Thase, M.E.19
Caesar, S.20
Sachs, G.S.21
Franklin, J.22
Gordon-Smith, K.23
Ardlie, K.G.24
Gabriel, S.B.25
Fraser, C.26
Blumenstiel, B.27
Defelice, M.28
Breen, G.29
Gill, M.30
more..
-
64
-
-
67349153674
-
Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder
-
Nimh Genetics Initiative Bipolar Disorder Consortium Rietschel McMahon M F.J. 10.1038/mp.2008.134 19088739
-
Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Schulze TG, Detera-Wadleigh SD, Akula N, Gupta A, Kassem L, Steele J, Pearl J, Strohmaier J, Breuer R, Schwarz M, Propping P, Nothen NM, Cichon S, Schumacher J, NIMH Genetics Initiative Bipolar Disorder Consortium, Rietschel M, McMahon FJ, Mol Psychiatry 2009 14 487 491 10.1038/mp.2008.134 19088739
-
(2009)
Mol Psychiatry
, vol.14
, pp. 487-491
-
-
Schulze, T.G.1
Detera-Wadleigh, S.D.2
Akula, N.3
Gupta, A.4
Kassem, L.5
Steele, J.6
Pearl, J.7
Strohmaier, J.8
Breuer, R.9
Schwarz, M.10
Propping, P.11
Nothen, N.M.12
Cichon, S.13
Schumacher, J.14
-
65
-
-
84869089377
-
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility
-
10.1002/humu.22174 22865819
-
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility. Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS, Hum Mutat 2012 33 1635 1638 10.1002/humu.22174 22865819
-
(2012)
Hum Mutat
, vol.33
, pp. 1635-1638
-
-
Bi, C.1
Wu, J.2
Jiang, T.3
Liu, Q.4
Cai, W.5
Yu, P.6
Cai, T.7
Zhao, M.8
Jiang, Y.H.9
Sun, Z.S.10
-
66
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
ENCODE Project Consortium 10.1038/nature11247 22955616
-
An integrated encyclopedia of DNA elements in the human genome. Dunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, Doyle F, Epstein CB, Frietze S, Harrow J, Kaul R, Khatun J, Lajoie BR, Landt SG, Lee BK, Pauli F, Rosenbloom KR, Sabo P, Safi A, Sanyal A, Shoresh N, Simon JM, Song L, Trinklein ND, Altschuler RC, Birney E, Brown JB, Cheng C, Djebali S, Dong X, ENCODE Project Consortium, Nature 2012 489 57 74 10.1038/nature11247 22955616
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Dunham, I.1
Kundaje, A.2
Aldred, S.F.3
Collins, P.J.4
Davis, C.A.5
Doyle, F.6
Epstein, C.B.7
Frietze, S.8
Harrow, J.9
Kaul, R.10
Khatun, J.11
Lajoie, B.R.12
Landt, S.G.13
Lee, B.K.14
Pauli, F.15
Rosenbloom, K.R.16
Sabo, P.17
Safi, A.18
Sanyal, A.19
Shoresh, N.20
Simon, J.M.21
Song, L.22
Trinklein, N.D.23
Altschuler, R.C.24
Birney, E.25
Brown, J.B.26
Cheng, C.27
Djebali, S.28
Dong, X.29
more..
-
67
-
-
77957940722
-
The NIH roadmap epigenomics mapping consortium
-
10.1038/nbt1010-1045 20944595
-
The NIH roadmap epigenomics mapping consortium. Bernstein BE, Stamatoyannopoulos JA, Costello JF, Ren B, Milosavljevic A, Meissner A, Kellis M, Marra MA, Beaudet AL, Ecker JR, Farnham PJ, Hirst M, Lander ES, Mikkelsen TS, Thomson JA, Nat Biotechnol 2010 28 1045 1048 10.1038/nbt1010-1045 20944595
-
(2010)
Nat Biotechnol
, vol.28
, pp. 1045-1048
-
-
Bernstein, B.E.1
Stamatoyannopoulos, J.A.2
Costello, J.F.3
Ren, B.4
Milosavljevic, A.5
Meissner, A.6
Kellis, M.7
Marra, M.A.8
Beaudet, A.L.9
Ecker, J.R.10
Farnham, P.J.11
Hirst, M.12
Lander, E.S.13
Mikkelsen, T.S.14
Thomson, J.A.15
-
68
-
-
84869436774
-
Interpreting noncoding genetic variation in complex traits and human disease
-
10.1038/nbt.2422 23138309
-
Interpreting noncoding genetic variation in complex traits and human disease. Ward LD, Kellis M, Nat Biotechnol 2012 30 1095 1106 10.1038/nbt.2422 23138309
-
(2012)
Nat Biotechnol
, vol.30
, pp. 1095-1106
-
-
Ward, L.D.1
Kellis, M.2
-
69
-
-
0030988484
-
Characterization of the COQ5 gene from Saccharomyces cerevisiae. Evidence for a C-methyltransferase in ubiquinone biosynthesis
-
10.1074/jbc.272.14.9182 9083049
-
Characterization of the COQ5 gene from Saccharomyces cerevisiae. Evidence for a C-methyltransferase in ubiquinone biosynthesis. Barkovich RJ, Shtanko A, Shepherd JA, Lee PT, Myles DC, Tzagoloff A, Clarke CF, J Biol Chem 1997 272 9182 9188 10.1074/jbc.272.14.9182 9083049
-
(1997)
J Biol Chem
, vol.272
, pp. 9182-9188
-
-
Barkovich, R.J.1
Shtanko, A.2
Shepherd, J.A.3
Lee, P.T.4
Myles, D.C.5
Tzagoloff, A.6
Clarke, C.F.7
-
70
-
-
13944259434
-
SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway
-
10.1016/j.molcel.2005.01.010 15721257
-
SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway. Fukuhara N, Ebert J, Unterholzner L, Lindner D, Izaurralde E, Conti E, Mol Cell 2005 17 537 547 10.1016/j.molcel.2005.01.010 15721257
-
(2005)
Mol Cell
, vol.17
, pp. 537-547
-
-
Fukuhara, N.1
Ebert, J.2
Unterholzner, L.3
Lindner, D.4
Izaurralde, E.5
Conti, E.6
-
71
-
-
80052273655
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia
-
10.1038/ng.902 21822266
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia. Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA, Karayiorgou M, Nat Genet 2011 43 864 868 10.1038/ng.902 21822266
-
(2011)
Nat Genet
, vol.43
, pp. 864-868
-
-
Xu, B.1
Roos, J.L.2
Dexheimer, P.3
Boone, B.4
Plummer, B.5
Levy, S.6
Gogos, J.A.7
Karayiorgou, M.8
-
72
-
-
80052269336
-
Increased exonic de novo mutation rate in individuals with schizophrenia
-
10.1038/ng.886 21743468
-
Increased exonic de novo mutation rate in individuals with schizophrenia. Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Nat Genet 2011 43 860 863 10.1038/ng.886 21743468
-
(2011)
Nat Genet
, vol.43
, pp. 860-863
-
-
Girard, S.L.1
Gauthier, J.2
Noreau, A.3
Xiong, L.4
Zhou, S.5
Jouan, L.6
Dionne-Laporte, A.7
Spiegelman, D.8
Henrion, E.9
Diallo, O.10
-
73
-
-
84863825848
-
Limitations of the human reference genome for personalized genomics
-
10.1371/journal.pone.0040294 22811759
-
Limitations of the human reference genome for personalized genomics. Rosenfeld JA, Mason CE, Smith TM, PLoS One 2012 7 40294 10.1371/journal.pone. 0040294 22811759
-
(2012)
PLoS One
, vol.7
, pp. 540294
-
-
Rosenfeld, J.A.1
Mason, C.E.2
Smith, T.M.3
|