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, William T Mahle, Robert M Campbell. Pediatrics 2003
Times Cited: 408
Times Cited: 408
Times Cited
Times Co-cited
Similarity
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
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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
30
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
30
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
24
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
24
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
21
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
21
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
19
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
16
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
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15
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
14
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
13
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
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
12
12
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
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
11
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
11
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
11
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
11
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
10
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
10
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
9
Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.
Jacob A S Vorstman, Elemi J Breetvelt, Sasja N Duijff, Stephan Eliez, Maude Schneider, Maria Jalbrzikowski, Marco Armando, Stefano Vicari, Vandana Shashi, Stephen R Hooper,[...]. JAMA Psychiatry 2015
Jacob A S Vorstman, Elemi J Breetvelt, Sasja N Duijff, Stephan Eliez, Maude Schneider, Maria Jalbrzikowski, Marco Armando, Stefano Vicari, Vandana Shashi, Stephen R Hooper,[...]. JAMA Psychiatry 2015
9
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Ronald J Wapner, Joshua E Babiarz, Brynn Levy, Melissa Stosic, Bernhard Zimmermann, Styrmir Sigurjonsson, Nicholas Wayham, Allison Ryan, Milena Banjevic, Phil Lacroute,[...]. Am J Obstet Gynecol 2015
Ronald J Wapner, Joshua E Babiarz, Brynn Levy, Melissa Stosic, Bernhard Zimmermann, Styrmir Sigurjonsson, Nicholas Wayham, Allison Ryan, Milena Banjevic, Phil Lacroute,[...]. Am J Obstet Gynecol 2015
9
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
8
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
8
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
10
Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.
Chantal Sellier, Vicki J Hwang, Ravi Dandekar, Blythe Durbin-Johnson, Nicolas Charlet-Berguerand, Bradley P Ander, Frank R Sharp, Kathleen Angkustsiri, Tony J Simon, Flora Tassone. PLoS One 2014
Chantal Sellier, Vicki J Hwang, Ravi Dandekar, Blythe Durbin-Johnson, Nicolas Charlet-Berguerand, Bradley P Ander, Frank R Sharp, Kathleen Angkustsiri, Tony J Simon, Flora Tassone. PLoS One 2014
21
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
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.
Shabnam Peyvandi, Philip J Lupo, Jennifer Garbarini, Stacy Woyciechowski, Sharon Edman, Beverly S Emanuel, Laura E Mitchell, Elizabeth Goldmuntz. Pediatr Cardiol 2013
Shabnam Peyvandi, Philip J Lupo, Jennifer Garbarini, Stacy Woyciechowski, Sharon Edman, Beverly S Emanuel, Laura E Mitchell, Elizabeth Goldmuntz. Pediatr Cardiol 2013
14
The incidence of congenital heart disease.
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
8
Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.
S X Tang, J J Yi, M E Calkins, D A Whinna, C G Kohler, M C Souders, D M McDonald-McGinn, E H Zackai, B S Emanuel, R C Gur,[...]. Psychol Med 2014
S X Tang, J J Yi, M E Calkins, D A Whinna, C G Kohler, M C Souders, D M McDonald-McGinn, E H Zackai, B S Emanuel, R C Gur,[...]. Psychol Med 2014
10
Risk factors and the evolution of psychosis in 22q11.2 deletion syndrome: a longitudinal 2-site study.
Doron Gothelf, Maude Schneider, Tamar Green, Martin Debbané, Amos Frisch, Bronwyn Glaser, Hadas Zilkha, Marie Schaer, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2013
Doron Gothelf, Maude Schneider, Tamar Green, Martin Debbané, Amos Frisch, Bronwyn Glaser, Hadas Zilkha, Marie Schaer, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2013
9
7
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
7
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
7
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
7
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk,[...]. J Med Genet 2013
Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk,[...]. J Med Genet 2013
9
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
7
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.
Denise van der Linde, Elisabeth E M Konings, Maarten A Slager, Maarten Witsenburg, Willem A Helbing, Johanna J M Takkenberg, Jolien W Roos-Hesselink. J Am Coll Cardiol 2011
Denise van der Linde, Elisabeth E M Konings, Maarten A Slager, Maarten Witsenburg, Willem A Helbing, Johanna J M Takkenberg, Jolien W Roos-Hesselink. J Am Coll Cardiol 2011
7
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
7
Central 22q11.2 deletions.
Patrick Rump, Nicole de Leeuw, Anthonie J van Essen, Corien C Verschuuren-Bemelmans, Hermine E Veenstra-Knol, Mariëlle E M Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik,[...]. Am J Med Genet A 2014
Patrick Rump, Nicole de Leeuw, Anthonie J van Essen, Corien C Verschuuren-Bemelmans, Hermine E Veenstra-Knol, Mariëlle E M Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik,[...]. Am J Med Genet A 2014
19
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.
Gabriela M Repetto, M Luisa Guzmán, Iris Delgado, Hugo Loyola, Mirta Palomares, Guillermo Lay-Son, Cecilia Vial, Felipe Benavides, Karena Espinoza, Patricia Alvarez. BMJ Open 2014
Gabriela M Repetto, M Luisa Guzmán, Iris Delgado, Hugo Loyola, Mirta Palomares, Guillermo Lay-Son, Cecilia Vial, Felipe Benavides, Karena Espinoza, Patricia Alvarez. BMJ Open 2014
35
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
8
Frequency of 22q11 deletions in patients with conotruncal defects.
E Goldmuntz, B J Clark, L E Mitchell, A F Jawad, B F Cuneo, L Reed, D McDonald-McGinn, P Chien, J Feuer, E H Zackai,[...]. J Am Coll Cardiol 1998
E Goldmuntz, B J Clark, L E Mitchell, A F Jawad, B F Cuneo, L Reed, D McDonald-McGinn, P Chien, J Feuer, E H Zackai,[...]. J Am Coll Cardiol 1998
7
7
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
6
Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk.
Carl Feinstein, Stephan Eliez, Christine Blasey, Allan L Reiss. Biol Psychiatry 2002
Carl Feinstein, Stephan Eliez, Christine Blasey, Allan L Reiss. Biol Psychiatry 2002
6
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.