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: 423
Times Cited: 423
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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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
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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
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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
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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.
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
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The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
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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
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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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Prevalence of 22q11 microdeletion.
S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, N Philip. J Med Genet 1996
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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
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13
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
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12
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
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11
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
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
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11
11
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
10
A population study of chromosome 22q11 deletions in infancy.
J Goodship, I Cross, J LiLing, C Wren. Arch Dis Child 1998
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10
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
L A Jerome, V E Papaioannou. Nat Genet 2001
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Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Donna M McDonald-McGinn, Kathleen E Sullivan. Medicine (Baltimore) 2011
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9
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
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9
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
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
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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
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13
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
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8
The incidence of congenital heart disease.
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
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8
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
15
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
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7
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
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
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9
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
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7
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
Rachel D Burnside. Cytogenet Genome Res 2015
Rachel D Burnside. Cytogenet Genome Res 2015
8
Frequency of 22q11 deletions in patients with conotruncal defects.
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7
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
Tamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, James McGrath, April M Hacker, Manjunath Nimmakayalu, Elizabeth Geiger, Beverly S Emanuel, Sulagna C Saitta. Genome Res 2007
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7
22q11.2 deletion syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, Antonio R Porras, Elijah Biggs, Matthew Share, T Blaine Crowley, Brian H Y Chung, Gary T K Mok, Christopher C Y Mak,[...]. Am J Med Genet A 2017
Paul Kruszka, Yonit A Addissie, Daniel E McGinn, Antonio R Porras, Elijah Biggs, Matthew Share, T Blaine Crowley, Brian H Y Chung, Gary T K Mok, Christopher C Y Mak,[...]. Am J Med Genet A 2017
12
Late-onset psychosis in the velo-cardio-facial syndrome.
R J Shprintzen, R Goldberg, K J Golding-Kushner, R W Marion. Am J Med Genet 1992
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6
Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.
J Helgeson, J Wardrop, T Boomer, E Almasri, W B Paxton, J S Saldivar, N Dharajiya, T J Monroe, D H Farkas, D S Grosu,[...]. Prenat Diagn 2015
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7
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson. Genet Med 2016
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson. Genet Med 2016
6
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty,[...]. Eur J Hum Genet 2016
Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty,[...]. Eur J Hum Genet 2016
26
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
S J Gross, M Stosic, D M McDonald-McGinn, A S Bassett, A Norvez, R Dhamankar, K Kobara, E Kirkizlar, B Zimmermann, N Wayham,[...]. Ultrasound Obstet Gynecol 2016
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9
Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?
Renée R Lajiness-O'Neill, Isabelle Beaulieu, Jeffrey B Titus, Alexander Asamoah, Erin D Bigler, Erawati V Bawle, Rebecca Pollack. Child Neuropsychol 2005
Renée R Lajiness-O'Neill, Isabelle Beaulieu, Jeffrey B Titus, Alexander Asamoah, Erin D Bigler, Erawati V Bawle, Rebecca Pollack. Child Neuropsychol 2005
9
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
6
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
6
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
Donna M McDonald-McGinn, Nancy Minugh-Purvis, Richard E Kirschner, Abbas Jawad, Melissa K Tonnesen, Jason R Catanzaro, Elizabeth Goldmuntz, Deborah Driscoll, Don Larossa, Beverly S Emanuel,[...]. Am J Med Genet A 2005
Donna M McDonald-McGinn, Nancy Minugh-Purvis, Richard E Kirschner, Abbas Jawad, Melissa K Tonnesen, Jason R Catanzaro, Elizabeth Goldmuntz, Deborah Driscoll, Don Larossa, Beverly S Emanuel,[...]. Am J Med Genet A 2005
15
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
6
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
6
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
6
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.
Laura Mercer-Rosa, Nelangi Pinto, Wei Yang, Ronn Tanel, Elizabeth Goldmuntz. J Thorac Cardiovasc Surg 2013
Laura Mercer-Rosa, Nelangi Pinto, Wei Yang, Ronn Tanel, Elizabeth Goldmuntz. J Thorac Cardiovasc Surg 2013
11
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.