Nathaniel H Robin, Robert J Shprintzen. J Pediatr 2005
Times Cited: 155
Times Cited: 155
Times Cited
Times Co-cited
Similarity
27
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
21
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
20
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
19
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
18
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
16
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
16
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
16
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
15
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
14
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.
Doron Gothelf, Carl Feinstein, Tracy Thompson, Eugene Gu, Lauren Penniman, Ellen Van Stone, Hower Kwon, Stephan Eliez, Allan L Reiss. Am J Psychiatry 2007
Doron Gothelf, Carl Feinstein, Tracy Thompson, Eugene Gu, Lauren Penniman, Ellen Van Stone, Hower Kwon, Stephan Eliez, Allan L Reiss. Am J Psychiatry 2007
13
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
13
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
13
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
13
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
12
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
12
Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
12
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
12
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
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
11
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
10
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
L Edelmann, R K Pandita, B E Morrow. Am J Hum Genet 1999
L Edelmann, R K Pandita, B E Morrow. Am J Hum Genet 1999
10
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
10
ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome.
Kevin M Antshel, Wanda Fremont, Nancy J Roizen, Robert Shprintzen, Anne Marie Higgins, Amit Dhamoon, Wendy R Kates. J Am Acad Child Adolesc Psychiatry 2006
Kevin M Antshel, Wanda Fremont, Nancy J Roizen, Robert Shprintzen, Anne Marie Higgins, Amit Dhamoon, Wendy R Kates. J Am Acad Child Adolesc Psychiatry 2006
10
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.
Jacob A S Vorstman, Monique E J Morcus, Sasja N Duijff, Petra W J Klaassen, Josien A Heineman-de Boer, Frits A Beemer, Hanna Swaab, René S Kahn, Herman van Engeland. J Am Acad Child Adolesc Psychiatry 2006
Jacob A S Vorstman, Monique E J Morcus, Sasja N Duijff, Petra W J Klaassen, Josien A Heineman-de Boer, Frits A Beemer, Hanna Swaab, René S Kahn, Herman van Engeland. J Am Acad Child Adolesc Psychiatry 2006
10
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
P J Scambler, D Kelly, E Lindsay, R Williamson, R Goldberg, R Shprintzen, D I Wilson, J A Goodship, I E Cross, J Burn. Lancet 1992
P J Scambler, D Kelly, E Lindsay, R Williamson, R Goldberg, R Shprintzen, D I Wilson, J A Goodship, I E Cross, J Burn. Lancet 1992
10
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
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
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
Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion.
M Woodin, P P Wang, D Aleman, D McDonald-McGinn, E Zackai, E Moss. Genet Med 2001
M Woodin, P P Wang, D Aleman, D McDonald-McGinn, E Zackai, E Moss. Genet Med 2001
9
COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome.
Kate Baker, Torsten Baldeweg, Sinthuja Sivagnanasundaram, Peter Scambler, David Skuse. Biol Psychiatry 2005
Kate Baker, Torsten Baldeweg, Sinthuja Sivagnanasundaram, Peter Scambler, David Skuse. Biol Psychiatry 2005
9
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.
R J Shprintzen, R B Goldberg, M L Lewin, E J Sidoti, M D Berkman, R V Argamaso, D Young. Cleft Palate J 1978
R J Shprintzen, R B Goldberg, M L Lewin, E J Sidoti, M D Berkman, R V Argamaso, D Young. Cleft Palate J 1978
9
Strong association of de novo copy number mutations with sporadic schizophrenia.
Bin Xu, J Louw Roos, Shawn Levy, E J van Rensburg, Joseph A Gogos, Maria Karayiorgou. Nat Genet 2008
Bin Xu, J Louw Roos, Shawn Levy, E J van Rensburg, Joseph A Gogos, Maria Karayiorgou. Nat Genet 2008
9
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
8
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.
E M Moss, M L Batshaw, C B Solot, M Gerdes, D M McDonald-McGinn, D A Driscoll, B S Emanuel, E H Zackai, P P Wang. J Pediatr 1999
E M Moss, M L Batshaw, C B Solot, M Gerdes, D M McDonald-McGinn, D A Driscoll, B S Emanuel, E H Zackai, P P Wang. J Pediatr 1999
8
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update.
B De Smedt, K Devriendt, J-P Fryns, A Vogels, M Gewillig, A Swillen. J Intellect Disabil Res 2007
B De Smedt, K Devriendt, J-P Fryns, A Vogels, M Gewillig, A Swillen. J Intellect Disabil Res 2007
8
Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.
Kathryn Eve Lewandowski, Vandana Shashi, Peggy M Berry, Thomas R Kwapil. Am J Med Genet B Neuropsychiatr Genet 2007
Kathryn Eve Lewandowski, Vandana Shashi, Peggy M Berry, Thomas R Kwapil. Am J Med Genet B Neuropsychiatr Genet 2007
9
Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study.
Kevin M Antshel, Robert Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V Faraone, Wendy R Kates. J Am Acad Child Adolesc Psychiatry 2010
Kevin M Antshel, Robert Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V Faraone, Wendy R Kates. J Am Acad Child Adolesc Psychiatry 2010
8
Otolaryngologic manifestations of the 22q11.2 deletion syndrome.
Orville Dyce, Donna McDonald-McGinn, Richard E Kirschner, Elaine Zackai, Kathleen Young, Ian N Jacobs. Arch Otolaryngol Head Neck Surg 2002
Orville Dyce, Donna McDonald-McGinn, Richard E Kirschner, Elaine Zackai, Kathleen Young, Ian N Jacobs. Arch Otolaryngol Head Neck Surg 2002
10
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).
Kevin M Antshel, Alka Aneja, Leslie Strunge, Jena Peebles, Wanda P Fremont, Kimberly Stallone, Nuria Abdulsabur, Anne Marie Higgins, Robert J Shprintzen, Wendy R Kates. J Autism Dev Disord 2007
Kevin M Antshel, Alka Aneja, Leslie Strunge, Jena Peebles, Wanda P Fremont, Kimberly Stallone, Nuria Abdulsabur, Anne Marie Higgins, Robert J Shprintzen, Wendy R Kates. J Autism Dev Disord 2007
8
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
7
Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study.
Doron Gothelf, Lauren Penniman, Eugene Gu, Stephan Eliez, Allan L Reiss. Schizophr Res 2007
Doron Gothelf, Lauren Penniman, Eugene Gu, Stephan Eliez, Allan L Reiss. Schizophr Res 2007
8
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
M Karayiorgou, M A Morris, B Morrow, R J Shprintzen, R Goldberg, J Borrow, A Gos, G Nestadt, P S Wolyniec, V K Lasseter. Proc Natl Acad Sci U S A 1995
M Karayiorgou, M A Morris, B Morrow, R J Shprintzen, R Goldberg, J Borrow, A Gos, G Nestadt, P S Wolyniec, V K Lasseter. Proc Natl Acad Sci U S A 1995
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
7
Velo-Cardio-Facial Syndrome.
Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert J Shprintzen. J Ment Health Res Intellect Disabil 2009
Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert J Shprintzen. J Ment Health Res Intellect Disabil 2009
18
7
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, J P Fryns. J Med Genet 1997
A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, J P Fryns. J Med Genet 1997
7
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
A Swillen, K Devriendt, E Legius, P Prinzie, A Vogels, P Ghesquière, J P Fryns. Genet Couns 1999
A Swillen, K Devriendt, E Legius, P Prinzie, A Vogels, P Ghesquière, J P Fryns. Genet Couns 1999
7
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.
Lena Niklasson, Peder Rasmussen, Sólveig Oskarsdóttir, Christopher Gillberg. Res Dev Disabil 2009
Lena Niklasson, Peder Rasmussen, Sólveig Oskarsdóttir, Christopher Gillberg. Res Dev Disabil 2009
7
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.