P J Scambler. Hum Mol Genet 2000
Times Cited: 348
Times Cited: 348
Times Cited
Times Co-cited
Similarity
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Maude Schneider, Martin Debbané, Anne S Bassett, Eva W C Chow, Wai Lun Alan Fung, Marianne van den Bree, Michael Owen, Kieran C Murphy, Maria Niarchou, Wendy R Kates,[...]. Am J Psychiatry 2014
Maude Schneider, Martin Debbané, Anne S Bassett, Eva W C Chow, Wai Lun Alan Fung, Marianne van den Bree, Michael Owen, Kieran C Murphy, Maria Niarchou, Wendy R Kates,[...]. Am J Psychiatry 2014
22
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Anne S Bassett, Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan,[...]. J Pediatr 2011
Anne S Bassett, Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan,[...]. J Pediatr 2011
20
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur,[...]. J Med Genet 1997
A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur,[...]. J Med Genet 1997
18
22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
18
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
15
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
14
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
14
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
S Oskarsdóttir, M Vujic, A Fasth. Arch Dis Child 2004
S Oskarsdóttir, M Vujic, A Fasth. Arch Dis Child 2004
14
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
Lorenzo D Botto, Kristin May, Paul M Fernhoff, Adolfo Correa, Karlene Coleman, Sonja A Rasmussen, Robert K Merritt, Leslie A O'Leary, Lee-Yang Wong, E Marsha Elixson,[...]. Pediatrics 2003
Lorenzo D Botto, Kristin May, Paul M Fernhoff, Adolfo Correa, Karlene Coleman, Sonja A Rasmussen, Robert K Merritt, Leslie A O'Leary, Lee-Yang Wong, E Marsha Elixson,[...]. Pediatrics 2003
13
Clinical features of 78 adults with 22q11 Deletion Syndrome.
Anne S Bassett, Eva W C Chow, Janice Husted, Rosanna Weksberg, Oana Caluseriu, Gary D Webb, Michael A Gatzoulis. Am J Med Genet A 2005
Anne S Bassett, Eva W C Chow, Janice Husted, Rosanna Weksberg, Oana Caluseriu, Gary D Webb, Michael A Gatzoulis. Am J Med Genet A 2005
12
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome.
Tamar Green, Doron Gothelf, Bronwyn Glaser, Martin Debbane, Amos Frisch, Moshe Kotler, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2009
Tamar Green, Doron Gothelf, Bronwyn Glaser, Martin Debbane, Amos Frisch, Moshe Kotler, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2009
12
Neurocognitive profile in 22q11 deletion syndrome and schizophrenia.
Eva W C Chow, Mark Watson, Donald A Young, Anne S Bassett. Schizophr Res 2006
Eva W C Chow, Mark Watson, Donald A Young, Anne S Bassett. Schizophr Res 2006
11
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
11
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Donna M McDonald-McGinn, Kathleen E Sullivan. Medicine (Baltimore) 2011
Donna M McDonald-McGinn, Kathleen E Sullivan. Medicine (Baltimore) 2011
11
A population study of chromosome 22q11 deletions in infancy.
J Goodship, I Cross, J LiLing, C Wren. Arch Dis Child 1998
J Goodship, I Cross, J LiLing, C Wren. Arch Dis Child 1998
10
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
D M McDonald-McGinn, M K Tonnesen, A Laufer-Cahana, B Finucane, D A Driscoll, B S Emanuel, E H Zackai. Genet Med 2001
D M McDonald-McGinn, M K Tonnesen, A Laufer-Cahana, B Finucane, D A Driscoll, B S Emanuel, E H Zackai. Genet Med 2001
9
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
Maria Karayiorgou, Tony J Simon, Joseph A Gogos. Nat Rev Neurosci 2010
Maria Karayiorgou, Tony J Simon, Joseph A Gogos. Nat Rev Neurosci 2010
9
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
9
The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
9
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
D M McDonald-McGinn, R Kirschner, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, C Solot, P Wang, I Jacobs,[...]. Genet Couns 1999
D M McDonald-McGinn, R Kirschner, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, C Solot, P Wang, I Jacobs,[...]. Genet Couns 1999
8
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives.
A E Pulver, G Nestadt, R Goldberg, R J Shprintzen, M Lamacz, P S Wolyniec, B Morrow, M Karayiorgou, S E Antonarakis, D Housman. J Nerv Ment Dis 1994
A E Pulver, G Nestadt, R Goldberg, R J Shprintzen, M Lamacz, P S Wolyniec, B Morrow, M Karayiorgou, S E Antonarakis, D Housman. J Nerv Ment Dis 1994
8
High rates of schizophrenia in adults with velo-cardio-facial syndrome.
K C Murphy, L A Jones, M J Owen. Arch Gen Psychiatry 1999
K C Murphy, L A Jones, M J Owen. Arch Gen Psychiatry 1999
8
8
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.
Rachel K Jonas, Caroline A Montojo, Carrie E Bearden. Biol Psychiatry 2014
Rachel K Jonas, Caroline A Montojo, Carrie E Bearden. Biol Psychiatry 2014
8
The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory.
C E Bearden, M F Woodin, P P Wang, E Moss, D McDonald-McGinn, E Zackai, B Emannuel, T D Cannon. J Clin Exp Neuropsychol 2001
C E Bearden, M F Woodin, P P Wang, E Moss, D McDonald-McGinn, E Zackai, B Emannuel, T D Cannon. J Clin Exp Neuropsychol 2001
7
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
7
Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
T M Maynard, D W Meechan, M L Dudevoir, D Gopalakrishna, A Z Peters, C C Heindel, T J Sugimoto, Y Wu, J A Lieberman, A-S Lamantia. Mol Cell Neurosci 2008
T M Maynard, D W Meechan, M L Dudevoir, D Gopalakrishna, A Z Peters, C C Heindel, T J Sugimoto, Y Wu, J A Lieberman, A-S Lamantia. Mol Cell Neurosci 2008
10
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, Danielle M Andrade, Erik Boot, Eva W C Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman,[...]. Genet Med 2015
Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, Danielle M Andrade, Erik Boot, Eva W C Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman,[...]. Genet Med 2015
7
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
T H Shaikh, H Kurahashi, S C Saitta, A M O'Hare, P Hu, B A Roe, D A Driscoll, D M McDonald-McGinn, E H Zackai, M L Budarf,[...]. Hum Mol Genet 2000
T H Shaikh, H Kurahashi, S C Saitta, A M O'Hare, P Hu, B A Roe, D A Driscoll, D M McDonald-McGinn, E H Zackai, M L Budarf,[...]. Hum Mol Genet 2000
7
Developmental trajectories in 22q11.2 deletion.
Ann Swillen, Donna McDonald-McGinn. Am J Med Genet C Semin Med Genet 2015
Ann Swillen, Donna McDonald-McGinn. Am J Med Genet C Semin Med Genet 2015
7
Premature death in adults with 22q11.2 deletion syndrome.
A S Bassett, E W C Chow, J Husted, K A Hodgkinson, E Oechslin, L Harris, C Silversides. J Med Genet 2009
A S Bassett, E W C Chow, J Husted, K A Hodgkinson, E Oechslin, L Harris, C Silversides. J Med Genet 2009
10
6
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski,[...]. Am J Hum Genet 2013
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski,[...]. Am J Hum Genet 2013
18
The schizophrenia phenotype in 22q11 deletion syndrome.
Anne S Bassett, Eva W C Chow, Philip AbdelMalik, Mirona Gheorghiu, Janice Husted, Rosanna Weksberg. Am J Psychiatry 2003
Anne S Bassett, Eva W C Chow, Philip AbdelMalik, Mirona Gheorghiu, Janice Husted, Rosanna Weksberg. Am J Psychiatry 2003
6
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.
Beverly A Karpinski, Thomas M Maynard, Matthew S Fralish, Samer Nuwayhid, Irene E Zohn, Sally A Moody, Anthony-S LaMantia. Dis Model Mech 2014
Beverly A Karpinski, Thomas M Maynard, Matthew S Fralish, Samer Nuwayhid, Irene E Zohn, Sally A Moody, Anthony-S LaMantia. Dis Model Mech 2014
16
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
6
Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study.
Marie Schaer, Martin Debbané, Meritxell Bach Cuadra, Marie-Christine Ottet, Bronwyn Glaser, Jean-Philippe Thiran, Stephan Eliez. Schizophr Res 2009
Marie Schaer, Martin Debbané, Meritxell Bach Cuadra, Marie-Christine Ottet, Bronwyn Glaser, Jean-Philippe Thiran, Stephan Eliez. Schizophr Res 2009
6
Clinical features and follow-up in patients with 22q11.2 deletion syndrome.
Caterina Cancrini, Pamela Puliafito, Maria Cristina Digilio, Annarosa Soresina, Silvana Martino, Roberto Rondelli, Rita Consolini, Ezia Maria Ruga, Fabio Cardinale, Andrea Finocchi,[...]. J Pediatr 2014
Caterina Cancrini, Pamela Puliafito, Maria Cristina Digilio, Annarosa Soresina, Silvana Martino, Roberto Rondelli, Rita Consolini, Ezia Maria Ruga, Fabio Cardinale, Andrea Finocchi,[...]. J Pediatr 2014
7
Prevalence of 22q11 microdeletion.
S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, N Philip. J Med Genet 1996
S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, N Philip. J Med Genet 1996
6
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega,[...]. Prenat Diagn 2015
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega,[...]. Prenat Diagn 2015
6
Diagnostic interview for children and adolescents (DICA)
W Reich. J Am Acad Child Adolesc Psychiatry 2000
W Reich. J Am Acad Child Adolesc Psychiatry 2000
6
Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.
Matthew J Schreiner, Maria T Lazaro, Maria Jalbrzikowski, Carrie E Bearden. Neuropharmacology 2013
Matthew J Schreiner, Maria T Lazaro, Maria Jalbrzikowski, Carrie E Bearden. Neuropharmacology 2013
28
Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia.
Laurie R Earls, R Gaines Fricke, Jing Yu, Raymond B Berry, Lisa T Baldwin, Stanislav S Zakharenko. J Neurosci 2012
Laurie R Earls, R Gaines Fricke, Jing Yu, Raymond B Berry, Lisa T Baldwin, Stanislav S Zakharenko. J Neurosci 2012
8
The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.
Irinna Papangeli, Peter Scambler. Wiley Interdiscip Rev Dev Biol 2013
Irinna Papangeli, Peter Scambler. Wiley Interdiscip Rev Dev Biol 2013
13
Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium.
P Devaraju, J Yu, D Eddins, M M Mellado-Lagarde, L R Earls, J J Westmoreland, G Quarato, D R Green, S S Zakharenko. Mol Psychiatry 2017
P Devaraju, J Yu, D Eddins, M M Mellado-Lagarde, L R Earls, J J Westmoreland, G Quarato, D R Green, S S Zakharenko. Mol Psychiatry 2017
16
Defining the clinical spectrum of deletion 22q11.2.
Nathaniel H Robin, Robert J Shprintzen. J Pediatr 2005
Nathaniel H Robin, Robert J Shprintzen. J Pediatr 2005
5
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, S R Patanjali, S M Weissman, K Anyane-Yeboa, D Warburton,[...]. Am J Hum Genet 1997
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, S R Patanjali, S M Weissman, K Anyane-Yeboa, D Warburton,[...]. Am J Hum Genet 1997
5
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome.
Doron Gothelf, Stephan Eliez, Tracy Thompson, Christine Hinard, Lauren Penniman, Carl Feinstein, Hower Kwon, Shuting Jin, Booil Jo, Stylianos E Antonarakis,[...]. Nat Neurosci 2005
Doron Gothelf, Stephan Eliez, Tracy Thompson, Christine Hinard, Lauren Penniman, Carl Feinstein, Hower Kwon, Shuting Jin, Booil Jo, Stylianos E Antonarakis,[...]. Nat Neurosci 2005
5
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.