1.Mapping of a Hirschsprung's disease locus in 3p21

Garcia-Barcelo, MM,     More...

Garcia-Barcelo, MM, Fong, PY, Tang, CS, Miao, XP, So, MT, Yuan, ZW, Li, L, Guo, WH, Liu, L, Wang, B, Sun, XB, Huang, LM, Tou, JF, Wong, KKY, Ngan, ESW, Lui, VCH, Cherny, SS, Sham, PC, Tam, PKH     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2008, Volume 16, Issue 7, Pages 833-840

收錄情况： WOS SCOPUS

WOS核心合集引用: 15  2023影響因子:  3.7  发表年影響因子:  3.925 

2.Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Tang, CSM, Zhuang, X     More...

Tang, CSM, Zhuang, XH, Lam, WY, Ngan, ESW, Hsu, JS, Michelle, Y, Man-Ting, S, Cherny, SS, Ngo, ND, Sham, PC, Tam, PKH, Garcia-Barcelo, MM     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2018, Volume 26, Issue 6, Pages 818-826

收錄情况： WOS SCOPUS

WOS核心合集引用: 19  2023影響因子:  3.7  发表年影響因子:  3.650 

3.Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Jannot, AS, Amiel, J     More...

Jannot, AS, Amiel, J, Pelet, A, Lantieri, F, Fernandez, RM, Verheij, JBGM, Garcia-Barcelo, M, Arnold, S, Ceccherini, I, Borrego, S, Hofstra, RMW, Tam, PKH, Munnich, A, Chakravarti, A, Clerget-Darpoux, F, Lyonnet, S     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2012, Volume 20, Issue 9, Pages 917-920

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WOS核心合集引用: 9  2023影響因子:  3.7  发表年影響因子:  4.319 

4.Genes regulating enteric nervous system development are impacted by Copy Number loss and modify penetrance in epistasis with RET

Kuil, L, Tang, CS, W     More...

Kuil, L, Tang, CS, Windster, JD, Le, T, Karim, A, de Graaf, BM, van der Helm, R, van Bever, Y, Sloots, CEJ, Meeussen, C, Tibboel, D, de Klein, A, Wijnen, RMH, Amiel, J, Lyonnet, S, Garcia-Barcelo, M, Tam, PKH, Alves, MM, Brooks, AS, Hofstra, RMW, Brosens, E     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2020, Volume 28, Issue SUPPL 1, Pages 215-216

收錄情况： WOS

WOS核心合集引用: 0  2023影響因子:  3.7  发表年影響因子:  4.246 

5.Enrichment for large deletions encompassing genes expressed in the enteric nervous system in Hirschsprung disease patients with additional associated anomalies

MacKenzie, KC, Tang,     More...

MacKenzie, KC, Tang, CS, Windster, JD, Le, T, de Graaf, BM, van der Helm, R, van Bever, Y, Sloots, CEJ, Meeussen, C, Tibboel, D, de Klein, A, Wijnen, RMH, Lyonnet, S, Garcia-Barcelo, M, Tam, PKH, Alves, M, Brooks, A, Hofstra, RMW, Brosens, E     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2019, Volume 27, Pages 1253-1253

收錄情况： WOS

WOS核心合集引用: 0  2023影響因子:  3.7  发表年影響因子:  3.657 

6.A complementary study approach unravels novel players in the pathoetiology of Hirschsprung's disease

Mederer, T, Schmitte     More...

Mederer, T, Schmitteckert, S, Volz, J, Martinez, C, Roth, R, Thumberger, T, Eckstein, V, Scheuerer, J, Thoni, C, Lasitschka, F, Carstensen, L, Gunther, P, Holland-Cunz, S, Hofstra, R, Brosens, E, Schriemer, D, Ceccherini, I, Rusmini, M, Tilghman, J, Luzon-Toro, B, Torroglosa, A, Borrego, S, Tang, CS, Garcia-Barcelo, M, Tam, P, Paramasivam, N, Bewerunge-Hudler, M, de la Torre, C, Gretz, N, Rappold, G, Romero, P, Niesler, B     Less

EUROPEAN JOURNAL OF HUMAN GENETICS[1018-4813], Published 2020, Volume 28, Issue SUPPL 1, Pages 78-79

收錄情况： WOS

WOS核心合集引用: 0  2023影響因子:  3.7  发表年影響因子:  4.246 

7.De novo mutations associated with sporadic cases of Caudal regresion syndrome

Porsch, RM, Merello,     More...

Porsch, RM, Merello, E, De Marco, P, So, MT, Sham, PC, Tam, PKH, Cherny, SS, Capra, V, Garcia-Barcelo, MM, Campbell, DD     Less

European Journal of Human Genetics[1018-4813], Published 2014,

2023影響因子:  3.7  发表年影響因子:  4.349 

8.Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients

Gui, H, Schriemer, D     More...

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, A     Less

European Journal of Human Genetics[1018-4813], Published 2013,

2023影響因子:  3.7  发表年影響因子:  4.225 

9.Systems biology approaches to the search for disease genes in Hirschsprung's disease

Luzon-Toro, B, Bleda     More...

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, S     Less

European Journal of Human Genetics[1018-4813], Published 2014,

2023影響因子:  3.7  发表年影響因子:  4.349