Victoria Randall, Karen McCue, Catherine Roberts, Vanessa Kyriakopoulou, Sarah Beddow, Angela N Barrett, Francesca Vitelli, Katrina Prescott, Charles Shaw-Smith, Koen Devriendt, Erika Bosman, Georg Steffes, Karen P Steel, Subreena Simrick, M Albert Basson, Elizabeth Illingworth, Peter J Scambler. J Clin Invest 2009
Times Cited: 98
Times Cited: 98
Times Cited
Times Co-cited
Similarity
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
36
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler,[...]. Nature 2001
E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler,[...]. Nature 2001
33
CHD7 cooperates with PBAF to control multipotent neural crest formation.
Ruchi Bajpai, Denise A Chen, Alvaro Rada-Iglesias, Junmei Zhang, Yiqin Xiong, Jill Helms, Ching-Pin Chang, Yingming Zhao, Tomek Swigut, Joanna Wysocka. Nature 2010
Ruchi Bajpai, Denise A Chen, Alvaro Rada-Iglesias, Junmei Zhang, Yiqin Xiong, Jill Helms, Ching-Pin Chang, Yingming Zhao, Tomek Swigut, Joanna Wysocka. Nature 2010
33
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
Erika A Bosman, Andrew C Penn, John C Ambrose, Ross Kettleborough, Derek L Stemple, Karen P Steel. Hum Mol Genet 2005
Erika A Bosman, Andrew C Penn, John C Ambrose, Ross Kettleborough, Derek L Stemple, Karen P Steel. Hum Mol Genet 2005
31
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
L A Jerome, V E Papaioannou. Nat Genet 2001
L A Jerome, V E Papaioannou. Nat Genet 2001
30
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
S Merscher, B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor,[...]. Cell 2001
S Merscher, B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor,[...]. Cell 2001
28
Role of TBX1 in human del22q11.2 syndrome.
Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, Takashi Sasaki, Shuichi Asakawa, Shinsei Minoshima, Fukiko Ichida, Kunitaka Joo, Misa Kimura, Shin-ichiro Imamura,[...]. Lancet 2003
Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, Takashi Sasaki, Shuichi Asakawa, Shinsei Minoshima, Fukiko Ichida, Kunitaka Joo, Misa Kimura, Shin-ichiro Imamura,[...]. Lancet 2003
26
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Gabriel E Zentner, Wanda S Layman, Donna M Martin, Peter C Scacheri. Am J Med Genet A 2010
Gabriel E Zentner, Wanda S Layman, Donna M Martin, Peter C Scacheri. Am J Med Genet A 2010
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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
J E H Bergman, N Janssen, L H Hoefsloot, M C J Jongmans, R M W Hofstra, C M A van Ravenswaaij-Arts. J Med Genet 2011
J E H Bergman, N Janssen, L H Hoefsloot, M C J Jongmans, R M W Hofstra, C M A van Ravenswaaij-Arts. J Med Genet 2011
26
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm.
Amélie Calmont, Sarah Ivins, Kelly Lammerts Van Bueren, Irinna Papangeli, Vanessa Kyriakopoulou, William D Andrews, James F Martin, Anne M Moon, Elizabeth A Illingworth, M Albert Basson,[...]. Development 2009
Amélie Calmont, Sarah Ivins, Kelly Lammerts Van Bueren, Irinna Papangeli, Vanessa Kyriakopoulou, William D Andrews, James F Martin, Anne M Moon, Elizabeth A Illingworth, M Albert Basson,[...]. Development 2009
26
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.
Michael P Schnetz, Cynthia F Bartels, Kuntal Shastri, Dheepa Balasubramanian, Gabriel E Zentner, Ravishankar Balaji, Xiaodong Zhang, Lingyun Song, Zhenghe Wang, Thomas Laframboise,[...]. Genome Res 2009
Michael P Schnetz, Cynthia F Bartels, Kuntal Shastri, Dheepa Balasubramanian, Gabriel E Zentner, Ravishankar Balaji, Xiaodong Zhang, Lingyun Song, Zhenghe Wang, Thomas Laframboise,[...]. Genome Res 2009
23
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Nicole Janssen, Jorieke E H Bergman, Morris A Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M W Hofstra, Conny M A van Ravenswaaij-Arts, Lies H Hoefsloot. Hum Mutat 2012
Nicole Janssen, Jorieke E H Bergman, Morris A Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M W Hofstra, Conny M A van Ravenswaaij-Arts, Lies H Hoefsloot. Hum Mutat 2012
22
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.
Elizabeth A Hurd, Patrice L Capers, Marsha N Blauwkamp, Meredith E Adams, Yehoash Raphael, Heather K Poucher, Donna M Martin. Mamm Genome 2007
Elizabeth A Hurd, Patrice L Capers, Marsha N Blauwkamp, Meredith E Adams, Yehoash Raphael, Heather K Poucher, Donna M Martin. Mamm Genome 2007
21
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman,[...]. J Med Genet 2006
M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman,[...]. J Med Genet 2006
21
CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression.
Michael P Schnetz, Lusy Handoko, Batool Akhtar-Zaidi, Cynthia F Bartels, C Filipe Pereira, Amanda G Fisher, David J Adams, Paul Flicek, Gregory E Crawford, Thomas Laframboise,[...]. PLoS Genet 2010
Michael P Schnetz, Lusy Handoko, Batool Akhtar-Zaidi, Cynthia F Bartels, C Filipe Pereira, Amanda G Fisher, David J Adams, Paul Flicek, Gregory E Crawford, Thomas Laframboise,[...]. PLoS Genet 2010
21
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A Lindsay, Antonio Baldini. Hum Mol Genet 2002
Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A Lindsay, Antonio Baldini. Hum Mol Genet 2002
19
Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.
Huansheng Xu, Masae Morishima, John N Wylie, Robert J Schwartz, Benoit G Bruneau, Elizabeth A Lindsay, Antonio Baldini. Development 2004
Huansheng Xu, Masae Morishima, John N Wylie, Robert J Schwartz, Benoit G Bruneau, Elizabeth A Lindsay, Antonio Baldini. Development 2004
19
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Karine G Harutyunyan, Christina Thaller, Leif E Peterson, John D McPherson, Richard A Gibbs, Lisa D White, Margaret Hefner,[...]. Am J Hum Genet 2006
Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Karine G Harutyunyan, Christina Thaller, Leif E Peterson, John D McPherson, Richard A Gibbs, Lisa D White, Margaret Hefner,[...]. Am J Hum Genet 2006
19
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
D Sanlaville, H C Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud,[...]. J Med Genet 2006
D Sanlaville, H C Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud,[...]. J Med Genet 2006
19
A genetic link between Tbx1 and fibroblast growth factor signaling.
Francesca Vitelli, Ilaria Taddei, Masae Morishima, Erik N Meyers, Elizabeth A Lindsay, Antonio Baldini. Development 2002
Francesca Vitelli, Ilaria Taddei, Masae Morishima, Erik N Meyers, Elizabeth A Lindsay, Antonio Baldini. Development 2002
18
In vivo response to high-resolution variation of Tbx1 mRNA dosage.
Zhen Zhang, Antonio Baldini. Hum Mol Genet 2008
Zhen Zhang, Antonio Baldini. Hum Mol Genet 2008
21
CHARGE association: an update and review for the primary pediatrician.
K D Blake, S L Davenport, B D Hall, M A Hefner, R A Pagon, M S Williams, A E Lin, J M Graham. Clin Pediatr (Phila) 1998
K D Blake, S L Davenport, B D Hall, M A Hefner, R A Pagon, M S Williams, A E Lin, J M Graham. Clin Pediatr (Phila) 1998
18
The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.
Elizabeth A Hurd, Heather K Poucher, Katherine Cheng, Yehoash Raphael, Donna M Martin. Development 2010
Elizabeth A Hurd, Heather K Poucher, Katherine Cheng, Yehoash Raphael, Donna M Martin. Development 2010
21
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Soma Jyonouchi, Donna M McDonald-McGinn, Sherri Bale, Elaine H Zackai, Kathleen E Sullivan. Pediatrics 2009
Soma Jyonouchi, Donna M McDonald-McGinn, Sherri Bale, Elaine H Zackai, Kathleen E Sullivan. Pediatrics 2009
25
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
R A Pagon, J M Graham, J Zonana, S L Yong. J Pediatr 1981
R A Pagon, J M Graham, J Zonana, S L Yong. J Pediatr 1981
17
16
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E Campbell, Anita Rauch. Am J Hum Genet 2007
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E Campbell, Anita Rauch. Am J Hum Genet 2007
15
Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome.
Deborah L Guris, Gregg Duester, Virginia E Papaioannou, Akira Imamoto. Dev Cell 2006
Deborah L Guris, Gregg Duester, Virginia E Papaioannou, Akira Imamoto. Dev Cell 2006
15
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
Erik Engelen, Umut Akinci, Jan Christian Bryne, Jun Hou, Cristina Gontan, Maaike Moen, Dorota Szumska, Christel Kockx, Wilfred van Ijcken, Dick H W Dekkers,[...]. Nat Genet 2011
Erik Engelen, Umut Akinci, Jan Christian Bryne, Jun Hou, Cristina Gontan, Maaike Moen, Dorota Szumska, Christel Kockx, Wilfred van Ijcken, Dick H W Dekkers,[...]. Nat Genet 2011
15
Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.
Zhen Zhang, Fabiana Cerrato, Huansheng Xu, Francesca Vitelli, Masae Morishima, Joshua Vincentz, Yasuhide Furuta, Lijiang Ma, James F Martin, Antonio Baldini,[...]. Development 2005
Zhen Zhang, Fabiana Cerrato, Huansheng Xu, Francesca Vitelli, Masae Morishima, Joshua Vincentz, Yasuhide Furuta, Lijiang Ma, James F Martin, Antonio Baldini,[...]. Development 2005
14
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
W S Layman, D P McEwen, L A Beyer, S R Lalani, S D Fernbach, E Oh, A Swaroop, C C Hegg, Y Raphael, J R Martens,[...]. Hum Mol Genet 2009
W S Layman, D P McEwen, L A Beyer, S R Lalani, S D Fernbach, E Oh, A Swaroop, C C Hegg, Y Raphael, J R Martens,[...]. Hum Mol Genet 2009
17
Identification of downstream genetic pathways of Tbx1 in the second heart field.
Jun Liao, Vimla S Aggarwal, Sonja Nowotschin, Alexei Bondarev, Shari Lipner, Bernice E Morrow. Dev Biol 2008
Jun Liao, Vimla S Aggarwal, Sonja Nowotschin, Alexei Bondarev, Shari Lipner, Bernice E Morrow. Dev Biol 2008
13
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran,[...]. Proc Natl Acad Sci U S A 2006
Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran,[...]. Proc Natl Acad Sci U S A 2006
13
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study.
Karina A Issekutz, John M Graham, Chitra Prasad, Isabel M Smith, Kim D Blake. Am J Med Genet A 2005
Karina A Issekutz, John M Graham, Chitra Prasad, Isabel M Smith, Kim D Blake. Am J Med Genet A 2005
13
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
Gabriel E Zentner, Elizabeth A Hurd, Michael P Schnetz, Lusy Handoko, Chuanping Wang, Zhenghe Wang, Chialin Wei, Paul J Tesar, Maria Hatzoglou, Donna M Martin,[...]. Hum Mol Genet 2010
Gabriel E Zentner, Elizabeth A Hurd, Michael P Schnetz, Lusy Handoko, Chuanping Wang, Zhenghe Wang, Chialin Wei, Paul J Tesar, Maria Hatzoglou, Donna M Martin,[...]. Hum Mol Genet 2010
20
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
A R Gennery, M A Slatter, J Rice, L H Hoefsloot, D Barge, A McLean-Tooke, T Montgomery, J A Goodship, A D Burt, T J Flood,[...]. Clin Exp Immunol 2008
A R Gennery, M A Slatter, J Rice, L H Hoefsloot, D Barge, A McLean-Tooke, T Montgomery, J A Goodship, A D Burt, T J Flood,[...]. Clin Exp Immunol 2008
18
Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.
Sonja Nowotschin, Jun Liao, Philip J Gage, Jonathan A Epstein, Marina Campione, Bernice E Morrow. Development 2006
Sonja Nowotschin, Jun Liao, Philip J Gage, Jonathan A Epstein, Marina Campione, Bernice E Morrow. Development 2006
12
Congenital heart disease in mice deficient for the DiGeorge syndrome region.
E A Lindsay, A Botta, V Jurecic, S Carattini-Rivera, Y C Cheah, H M Rosenblatt, A Bradley, A Baldini. Nature 1999
E A Lindsay, A Botta, V Jurecic, S Carattini-Rivera, Y C Cheah, H M Rosenblatt, A Bradley, A Baldini. Nature 1999
12
Fate of the mammalian cardiac neural crest.
X Jiang, D H Rowitch, P Soriano, A P McMahon, H M Sucov. Development 2000
X Jiang, D H Rowitch, P Soriano, A P McMahon, H M Sucov. Development 2000
12
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Jorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, Hermien E K de Walle, Jeroen Schoots, Nanna D Rendtorff, Lisbeth Tranebjaerg, Lies H Hoefsloot, Conny M A van Ravenswaaij-Arts, Robert M W Hofstra. Hum Mutat 2012
Jorieke E H Bergman, Nicole Janssen, Almer M van der Sloot, Hermien E K de Walle, Jeroen Schoots, Nanna D Rendtorff, Lisbeth Tranebjaerg, Lies H Hoefsloot, Conny M A van Ravenswaaij-Arts, Robert M W Hofstra. Hum Mutat 2012
25
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.
Sarah Ivins, Kelly Lammerts van Beuren, Catherine Roberts, Chela James, Elizabeth Lindsay, Antonio Baldini, Paris Ataliotis, Peter J Scambler. Dev Biol 2005
Sarah Ivins, Kelly Lammerts van Beuren, Catherine Roberts, Chela James, Elizabeth Lindsay, Antonio Baldini, Paris Ataliotis, Peter J Scambler. Dev Biol 2005
16
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.
Huansheng Xu, Fabiana Cerrato, Antonio Baldini. Development 2005
Huansheng Xu, Fabiana Cerrato, Antonio Baldini. Development 2005
11
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.
Jun Liao, Lazaros Kochilas, Sonja Nowotschin, Jelena S Arnold, Vimla S Aggarwal, Jonathan A Epstein, M Christian Brown, Joe Adams, Bernice E Morrow. Hum Mol Genet 2004
Jun Liao, Lazaros Kochilas, Sonja Nowotschin, Jelena S Arnold, Vimla S Aggarwal, Jonathan A Epstein, M Christian Brown, Joe Adams, Bernice E Morrow. Hum Mol Genet 2004
11
Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development.
Zhen Zhang, Tuong Huynh, Antonio Baldini. Development 2006
Zhen Zhang, Tuong Huynh, Antonio Baldini. Development 2006
11
Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development.
V Garg, C Yamagishi, T Hu, I S Kathiriya, H Yamagishi, D Srivastava. Dev Biol 2001
V Garg, C Yamagishi, T Hu, I S Kathiriya, H Yamagishi, D Srivastava. Dev Biol 2001
11
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Hyung-Goo Kim, Ingo Kurth, Fei Lan, Irene Meliciani, Wolfgang Wenzel, Soo Hyun Eom, Gil Bu Kang, Georg Rosenberger, Mustafa Tekin, Metin Ozata,[...]. Am J Hum Genet 2008
Hyung-Goo Kim, Ingo Kurth, Fei Lan, Irene Meliciani, Wolfgang Wenzel, Soo Hyun Eom, Gil Bu Kang, Georg Rosenberger, Mustafa Tekin, Metin Ozata,[...]. Am J Hum Genet 2008
11
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
Wanda S Layman, Elizabeth A Hurd, Donna M Martin. Hum Mol Genet 2011
Wanda S Layman, Elizabeth A Hurd, Donna M Martin. Hum Mol Genet 2011
26
An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.
Deborah U Frank, Lori K Fotheringham, Judson A Brewer, Louis J Muglia, Martin Tristani-Firouzi, Mario R Capecchi, Anne M Moon. Development 2002
Deborah U Frank, Lori K Fotheringham, Judson A Brewer, Louis J Muglia, Martin Tristani-Firouzi, Mario R Capecchi, Anne M Moon. Development 2002
10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.