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TypeTitleAuthor(s)YearViews
Systems biology approaches to the search for disease genes in Hirschsprung's disease
Proceedings/Conference:
European Conference of Human Genetics, Milan, Italy, 31 May - 3 June 2014
Luzon-Toro, B; Bleda, M; Fernandez, RM; Garcia-Alonso, L; Arnold, S; Sribudiani, Y; Besmond, C; Lantieri, F; Torroglosa, A; Enguix-Riego, M; Garcia-Barcelo, MM; Tam, PKH; Ceccherini, I; Lyonnet, S; Hofstra, RM; Chakravarti, A; Antinolo, G; Dopazo, J; Borrego, S201419
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceedings/Conference:
European Conference of Human Genetics, Milan, Italy, 31 May - 3 June 2014
Hofstra, RMW; Gui, H; Schriemer, D; Griseri, P; Pelet, A; Ruiz-Ferrer, M; Berrios, C; van Ijcken, W; van den Hout, M; Tam, PKH; Cheng, W; Tang, SM; Eggen, BJL; Matera, I; Ceccherini, I; Amiel, J; Lyonnet, S; Antinolo, G; Borrego, S; Chakravarti, A; Garcia-Barcelo, MM201423
 
Contribution of rare and common variants determine complex diseases - Hirschsprung disease as a model
Journal:
Developmental Biology
Alves, MM; Sribudiani, Y; Brouwer, RWW; Amiel, J; Antinolo, G; Borrego, S; Ceccherini, I; Chakravarti, A; Fernandez, RM; Garcia-Barcelo, MM; Griseri, P; Lyonnet, S; Tam, PKH; van Ijcken, WFJ; Eggen, BJL; te Meerman, GJ; Hofstra, RMW201349
 
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients
Proceedings/Conference:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Gui, H; Schriemer, D; Eggen, BJL; Hofstra, RMW; van Ijcken, W; van den Hout, M; Griseri, P; Matera, I; Ceccherini, I; Pelet, A; Amiel, J; Lyonnet, S; Garcia-Barcelo, M; Tam, PKH; Ruiz-Ferrer, M; Antinolo, G; Borrego, S; Berrios, C; Chakravarti, A201375
 
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
Journal:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Jannot, AS; Amiel, J; Pelet, A; Lantieri, F; Fernandez, RM; Verheij, JBGM; GarciaBarcelo, M; Arnold, S; Ceccherini, I; Borrego, S; Hofstra, RMW; Tam, PKH; Munnich, A; Chakravarti, A; ClergetDarpoux, F; Lyonnet, S2012166
 
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Emison, ES; GarciaBarcelo, M; Grice, EA; Lantieri, F; Amiel, J; Burzynski, G; Fernandez, RM; Hao, L; Kashuk, C; West, K; Miao, X; Tam, PKH; Griseri, P; Ceccherini, I; Pelet, A; Jannot, AS; De Pontual, L; HenrionCaude, A; Lyonnet, S; Verheij, JBGM; Hofstra, RMW; Antiñolo, G; Borrego, S; McCallion, AS; Chakravarti, A2010704
 
Hirschsprung disease, associated syndromes and genetics: A review
Journal:
Journal of Medical Genetics
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Amiel, J; SproatEmison, E; GarciaBarcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, AS; Antinolo, G; De Pontual, L; ClementZiza, M; Munnich, A; Kashuk, C; West, K; Wong, KKY; Lyonnet, S; Chakravarti, A; Tam, PKH; Ceccherini, I; Hofstra, RMW; Fernandez, R2008492
 
A second generation human haplotype map of over 3.1 million SNPs
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Frazer, KA; Ballinger, DG; Cox, DR; Hinds, DA; Stuve, LL; Gibbs, RA; Belmont, JW; Boudreau, A; Hardenbol, P; Leal, SM; Pasternak, S; Wheeler, DA; Willis, TD; Yu, F; Yang, H; Zeng, C; Gao, Y; Hu, H; Hu, W; Li, C; Lin, W; Liu, S; Pan, H; Tang, X; Wang, J; Wang, W; Yu, J; Zhang, B; Zhang, Q; Zhao, H; Zhao, H; Zhou, J; Gabriel, SB; Barry, R; Blumenstiel, B; Camargo, A; Defelice, M; Faggart, M; Goyette, M; Gupta, S; Moore, J; Nguyen, H; Onofrio, RC; Parkin, M; Roy, J; Stahl, E; Winchester, E; Ziaugra, L; Altshuler, D; Shen, Y; Yao, Z; Huang, W; Chu, X; He, Y; Jin, L; Liu, Y; Shen, Y; Sun, W; Wang, H; Wang, Y; Wang, Y; Xiong, X; Xu, L; Waye, MMY; Tsui, SKW; Xue, H; Wong, JTF; Galver, LM; Fan, JB; Gunderson, K; Murray, SS; Oliphant, AR; Chee, MS; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Olivier, JF; Phillips, MS; Roumy, S; Sallée, C; Verner, A; Hudson, TJ; Kwok, PY; Cai, D; Koboldt, DC; Miller, RD; Pawlikowska, L; TaillonMiller, P; Xiao, M; Tsui, LC; Mak, W; You, QS; Tam, PKH; Nakamura, Y; Kawaguchi, T; Kitamoto, T; Morizono, T; Nagashima, A; Ohnishi, Y; Sekine, A; Tanaka, T; Tsunoda, T; Deloukas, P; Bird, CP; Delgado, M; Dermitzakis, ET; Gwilliam, R; Hunt, S; Morrison, J; Powell, D; Stranger, BE; Whittaker, P; Bentley, DR; Daly, MJ; De Bakker, PIW; Barrett, J; Chretien, YR; Maller, J; McCarroll, S; Patterson, N; Pe'Er, I; Price, A; Purcell, S; Richter, DJ; Sabeti, P; Saxena, R; Schaffner, SF; Sham, PC; Varilly, P; Stein, LD; Krishnan, L; Smith, AV; TelloRuiz, MK; Thorisson, GA; Chakravarti, A; Chen, PE; Cutler, DJ; Kashuk, CS; Lin, S; Abecasis, GR; Guan, W; Li, Y; Munro, HM; Qin, ZS; Thomas, DJ; McVean, G; Auton, A; Bottolo, L; Cardin, N; Eyheramendy, S; Freeman, C; Marchini, J; Myers, S; Spencer, C; Stephens, M; Donnelly, P; Cardon, LR; Clarke, G; Evans, DM; Morris, AP; Weir, BS; Johnson, TA; Mullikin, JC; Sherry, ST; Feolo, M; Skol, A; Zhang, H; Matsuda, I; Fukushima, Y; MacEr, DR; Suda, E; Rotimi, CN; Adebamowo, CA; Ajayi, I; Aniagwu, T; Marshall, PA; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Peiffer, A; Qiu, R; Kent, A; Kato, K; Niikawa, N; Adewole, IF; Knoppers, BM; Foster, MW; Clayton, EW; Watkin, J; Muzny, D; Nazareth, L; Sodergren, E; Weinstock, GM; Yakub, I; Birren, BW; Wilson, RK; Fulton, LL; Rogers, J; Burton, J; Carter, NP; Clee, CM; Griffiths, M; Jones, MC; McLay, K; Plumb, RW; Ross, MT; Sims, SK; Willey, DL; Chen, Z; Han, H; Kang, L; Godbout, M; Wallenburg, JC; L'Archevêque, P; Bellemare, G; Saeki, K; Wang, H; An, D; Fu, H; Li, Q; Wang, Z; Wang, R; Holden, AL; Brooks, LD; McEwen, JE; Guyer, MS; Wang, VO; Peterson, JL; Shi, M; Spiegel, J; Sung, LM; Zacharia, LF; Collins, FS; Kennedy, K; Jamieson, R; Stewart, J200711,144
 
Genome-wide detection and characterization of positive selection in human populations
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Sabeti, PC; Varilly, P; Fry, B; Lohmueller, J; Hostetter, E; Cotsapas, C; Xie, X; Byrne, EH; McCarroll, SA; Gaudet, R; Schaffner, SF; Lander, ES; Frazer, KA; Ballinger, DG; Cox, DR; Hinds, DA; Stuve, LL; Gibbs, RA; Belmont, JW; Boudreau, A; Hardenbol, P; Leal, SM; Pasternak, S; Wheeler, DA; Willis, TD; Yu, F; Yang, H; Zeng, C; Gao, Y; Hu, H; Hu, W; Li, C; Lin, W; Liu, S; Pan, H; Tang, X; Wang, J; Wang, W; Yu, J; Zhang, B; Zhang, Q; Zhao, H; Zhao, H; Zhou, J; Gabriel, SB; Barry, R; Blumenstiel, B; Camargo, A; Defelice, M; Faggart, M; Goyette, M; Gupta, S; Moore, J; Nguyen, H; Onofrio, RC; Parkin, M; Roy, J; Stahl, E; Winchester, E; Ziaugra, L; Altshuler, D; Shen, Y; Yao, Z; Huang, W; Chu, X; He, Y; Jin, L; Liu, Y; Shen, Y; Sun, W; Wang, H; Wang, Y; Wang, Y; Xiong, X; Xu, L; Waye, MMY; Tsui, SKW; Xue, H; Wong, JTF; Galver, LM; Fan, JB; Gunderson, K; Murray, SS; Oliphant, AR; Chee, MS; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Olivier, JF; Phillips, MS; Roumy, S; Sallée, C; Verner, A; Hudson, TJ; Kwok, PY; Cai, D; Koboldt, DC; Miller, RD; Pawlikowska, L; TaillonMiller, P; Xiao, M; Tsui, LC; Mak, W; You, QS; Tam, PKH; Nakamura, Y; Kawaguchi, T; Kitamoto, T; Morizono, T; Nagashima, A; Ohnishi, Y; Sekine, A; Tanaka, T; Tsunoda, T; Deloukas, P; Bird, CP; Delgado, M; Dermitzakis, ET; Gwilliam, R; Hunt, S; Morrison, J; Powell, D; Stranger, BE; Whittaker, P; Bentley, DR; Daly, MJ; De Bakker, PIW; Barrett, J; Chretien, YR; Maller, J; McCarroll, S; Patterson, N; Pe'Er, I; Price, A; Purcell, S; Richter, DJ; Saxena, R; Sham, PC; Stein, LD; Krishnan, L; Smith, AV; TelloRuiz, MK; Thorisson, GA; Chakravarti, A; Chen, PE; Cutler, DJ; Kashuk, CS; Lin, S; Abecasis, GR; Guan, W; Li, Y; Munro, HM; Qin, ZS; Thomas, DJ; McVean, G; Auton, A; Bottolo, L; Cardin, N; Eyheramendy, S; Freeman, C; Marchini, J; Myers, S; Spencer, C; Stephens, M; Donnelly, P; Cardon, LR; Clarke, G; Evans, DM; Morris, AP; Weir, BS; Johnson, TA; Mullikin, JC; Sherry, ST; Feolo, M; Skol, A; Zhang, H; Matsuda, I; Fukushima, Y; MacEr, DR; Suda, E; Rotimi, CN; Adebamowo, CA; Ajayi, I; Aniagwu, T; Marshall, PA; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Peiffer, A; Qiu, R; Kent, A; Kato, K; Niikawa, N; Adewole, IF; Knoppers, BM; Foster, MW; Clayton, EW; Watkin, J; Muzny, D; Nazareth, L; Sodergren, E; Weinstock, GM; Yakub, I; Birren, BW; Wilson, RK; Fulton, LL; Rogers, J; Burton, J; Carter, NP; Clee, CM; Griffiths, M; Jones, MC; McLay, K; Plumb, RW; Ross, MT; Sims, SK; Willey, DL; Chen, Z; Han, H; Kang, L; Godbout, M; Wallenburg, JC; L'Archevêque, P; Bellemare, G; Saeki, K; Wang, H; An, D; Fu, H; Li, Q; Wang, Z; Wang, R; Holden, AL; Brooks, LD; McEwen, JE; Guyer, MS; Wang, VO; Peterson, JL; Shi, M; Spiegel, J; Sung, LM; Zacharia, LF; Collins, FS; Kennedy, K; Jamieson, R; Stewart, J2007934
 
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
Proceedings/Conference:
53rd Annual International Congress of the British Association of Paediatric Suregons, Stockholm, Sweden, 18-21 July 2006
Tam, PKH; Garcia-Barcelo, MM; Tullio-Pelet, A; Lyonnet, S; Lantieri, F; Kashuk, C; Hofstra, R; Griseri, P; Fernandez, R; Eng, C; Emison, E; Burzynski, G; Ceccherini, I; Borrego, S; Antinolo, G; Amiel, J; West, K; Chakravarti, A2006179
 
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
Proceedings/Conference:
56th Annual Meeting of the American Society of Human Genetics, New Orleans, U.S.A., 9-13 October 2006
Garcia-Barcelo, MM; Amiel, J; Antinolo, G; Borrego, S; Burzynski, G; Ceccherini, I; Emison, E; Eng, C; Fernandez, R; Griseri, P; Hofstra, R; Kashuk, C; Lantien, F; Lyonnet, S; Miao, X; Tam, PKH; Tullio-Pelet, A; West, K; Chakravarti, A2006143
 
Differential liabilities of coding and non-coding mutations in complex disease
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics. Salt Lake City, USA, October 25-29 2005.
Burzynski, G.; Amiel, J.; Antinolo, G; Borrego,, S.; Ceccherini, I; Emison, E; Eng, C; Fernandez, R; Garcia-Barcelo, MM; Griseri, P.; Hofstra, R; Kashuk, C; Lantieri, F; Lyonnet, S; Tam, PKH; Tullio-Pelet, A; West, K; Chakravarti, A2005120
 
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.
Proceedings/Conference:
Gordon Research Conference on Human Genetics and Genomics Salve Regina University Newport, RI, USA, July 24-29, 2005
Emison, E; Burzynski, G; Amiel, J; Borrego, S; Ceccherini,, I; Fernandez, R; Garcia-Barcelo, MM; Griseri, P; Hofstra, R; Kashuk, CS; Lantieri, F; Lyonnet, S; Tam, PKH; Pecina, A; Tullio-Pelet,, A; West, K; Chakravarti, A2005157
 
A haplotype map of the human genome
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Belmont, JW; Boudreau, A; Leal, SM; Hardenbol, P; Pasternak, S; Wheeler, DA; Willis, TD; Yu, F; Yang, H; Gao, Y; Hu, H; Wang, Y; Wang, Y; Xiong, X; Xu, L; Waye, MMY; Tsui, SKW; Xue, H; Wong, JTF; Galver, LM; Barrett, J; Sodergren, E; Fan, JB; Murray, SS; Oliphant, AR; Chee, MS; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Olivier, JF; Phillips, MS; Weinstock, GM; Fry, B; Roumy, S; Sallée, C; Verner, A; Hudson, TJ; Frazer, KA; Ballinger, DG; Cox, DR; Hinds, DA; Stuve, LL; Yakub, I; Kwok, PY; Hu, W; Cai, D; Koboldt, DC; Miller, RD; Pawlikowska, L; TaillonMiller, P; Xiao, M; Tsui, LC; Mak, W; Gabriel, SB; Sham, PC; Song, YQ; Maller, J; Tam, PKH; Nakamura, Y; Kawaguchi, T; Kitamoto, T; Morizono, T; Nagashima, A; Ohnishi, Y; Onofrio, RC; Sekine, A; Tanaka, T; Deloukas, P; McCarroll, S; Bird, CP; Delgado, M; Dermitzakis, ET; Patterson, N; Pe'er, I; Purcell, S; Ziaugra, L; Richter, DJ; Sabeti, P; Saxena, R; Schaffner, SF; Varilly, P; Li, C; Stein, LD; Krishnan, L; Smith, AV; Thorisson, GA; Birren, BW; Chakravarti, A; Chen, PE; Cutler, DJ; Kashuk, CS; Lin, S; Abecasis, GR; Lin, W; Guan, W; Munro, HM; Qin, ZS; Daly, MJ; Thomas, DJ; McVean, G; Bottolo, L; Eyheramendy, S; Freeman, C; Marchini, J; Myers, S; Liu, S; Spencer, C; Stephens, M; Wilson, RK; Donnelly, P; Cardon, LR; Clarke, G; Evans, DM; Morris, AP; Weir, BS; Tsunoda, T; Mullikin, JC; Pan, H; Sherry, ST; Yu, J; Feolo, M; Zhang, H; Zeng, C; Zhao, H; Matsuda, I; Fukushima, Y; Macer, DR; Suda, E; Rotimi, CN; Tang, X; Gwilliam, R; Adebamowo, CA; Ajayi, I; Aniagwu, T; Marshall, PA; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Peiffer, A; Qiu, R; Fulton, LL; Wang, J; Kent, A; Kato, K; Niikawa, N; Adewole, IF; Knoppers, BM; Foster, MW; Clayton, EW; Watkin, J; Gibbs, RA; Rogers, J; Muzny, D; Wang, W; Nazareth, L; Burton, J; Carter, NP; Clee, CM; Griffiths, M; Jones, MC; McLay, K; Plumb, RW; Ross, MT; Hunt, S; Zhang, B; Sims, SK; Willey, DL; Chen, Z; Han, H; Kang, L; Godbout, M; Wallenburg, JC; L'Archevêque, P; Bellemare, G; Morrison, J; Saeki, K; Zhang, Q; Wang, H; An, D; Fu, H; Li, Q; Wang, Z; Wang, R; Holden, AL; Brooks, LD; Powell, D; McEwen, JE; Bird, CR; Zhao, H; Guyer, MS; Nailer, PJ; Wang, VO; Peterson, JL; Shi, M; Spiegel, J; Sung, LM; Stranger, BE; Witonsky, J; Zacharia, LF; Collins, FS; Zhou, J; Kennedy, K; Jamieson, R; Stewart, J; Barry, R; Blumenstiel, B; Camargo, A; Whittaker, P; Defelice, M; Faggart, M; Goyette, M; Gupta, S; Moore, J; Nguyen, H; Parkin, M; Roy, J; Stahl, E; Winchester, E; Bentley, DR; Altshuler, D; Shen, Y; Yao, Z; Huang, W; Chu, X; He, Y; Jin, L; Liu, Y; Shen, Y; Sun, W; De Bakker, PIW; Wang, H20051,868
 
The international HapMap project
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Belmont, JW; Hardenbol, P; Willis, TD; Yu, F; Yang, H; Ch'ang, LY; Huang, W; Liu, B; Shen, Y; Tam, PKH; Tsui, LC; Waye, MMY; Wong, JTF; Zeng, C; Zhang, Q; Chee, MS; Galver, LM; Kruglyak, S; Murray, SS; Oliphant, AR; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Phillips, MS; Verner, A; Duan, S; Lind, DL; Miller, RD; Rice, J; Saccone, NL; TaillonMiller, P; Xiao, M; Sekine, A; Sorimachi, K; Tanaka, Y; Tsunoda, T; Yoshino, E; Bentley, DR; Hunt, S; Powell, D; Zhang, H; Matsuda, I; Fukushima, Y; Macer, DR; Suda, E; Rotimi, C; Adebamowo, CA; Aniagwu, T; Marshall, PA; Matthew, O; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Cunningham, F; Kanani, A; Thorisson, GA; Chen, PE; Cutler, DJ; Kashuk, CS; Donnelly, P; Marchini, J; Mcvean, GAT; Myers, SR; Cardon, LR; Morris, A; Weir, BS; Mullikin, JC; Feolo, M; Daly, MJ; Qiu, R; Kent, A; Dunston, GM; Kato, K; Niikawa, N; Watkin, J; Gibbs, RA; Sodergren, E; Weinstock, GM; Wilson, RK; Fulton, LL; Rogers, J; Birren, BW; Han, H; Wang, H; Godbout, M; Wallenburg, JC; L'archevêque, P; Bellemare, G; Todani, K; Fujita, T; Tanaka, S; Holden, AL; Collins, FS; Brooks, LD; Mcewen, JE; Guyer, MS; Jordan, E; Peterson, JL; Spiegel, J; Sung, LM; Zacharia, LF; Kennedy, K; Dunn, MG; Seabrook, R; Shillito, M; Skene, B; Stewart, JG; Valle, DL; Clayton, EW; Jorde, LB; Chakravarti, A; Cho, MK; Duster, T; Foster, MW; Jasperse, M; Knoppers, BM; Kwok, PY; Licinio, J; Long, JC; Ossorio, P; Wang, VO; Rotimi, CN; Spallone, P; Terry, SF; Lander, ES; Lai, EH; Nickerson, DA; Abecasis, GR; Altshuler, D; Boehnke, M; Deloukas, P; Douglas, JA; Gabriel, SB; Hudson, RR; Hudson, TJ; Kruglyak, L; Nakamura, Y; Nussbaum, RL; Schaffner, SF; Sherry, ST; Stein, LD; Tanaka, T2003243
 
Identification of the cystic fibrosis gene: Genetic analysis
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
Kerem, BS; Rommens, JM; Buchanan, JA; Markiewicz, D; Cox, TK; Chakravarti, A; Buchwald, M; Tsui, LC1989393
 
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