Anne S Bassett, Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jacob Vorstman. J Pediatr 2011
Times Cited: 310
Times Cited: 310
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
37
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
25
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
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
19
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
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
17
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
16
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
15
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
13
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Ian M Campbell, Sarah E Sheppard, T Blaine Crowley, Daniel E McGinn, Alice Bailey, Michael J McGinn, Marta Unolt, Jelle F Homans, Erin Y Chen, Harold I Salmons,[...]. Am J Med Genet A 2018
Ian M Campbell, Sarah E Sheppard, T Blaine Crowley, Daniel E McGinn, Alice Bailey, Michael J McGinn, Marta Unolt, Jelle F Homans, Erin Y Chen, Harold I Salmons,[...]. Am J Med Genet A 2018
32
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
11
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
10
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
10
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
11
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
9
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
9
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
28
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
10
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
8
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
8
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.
Lisa M Piliero, Amy N Sanford, Donna M McDonald-McGinn, Elaine H Zackai, Kathleen E Sullivan. Blood 2004
Lisa M Piliero, Amy N Sanford, Donna M McDonald-McGinn, Elaine H Zackai, Kathleen E Sullivan. Blood 2004
8
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
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
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
10
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
7
The immune deficiency of chromosome 22q11.2 deletion syndrome.
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan. Am J Med Genet A 2017
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan. Am J Med Genet A 2017
18
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
R Zemble, E Luning Prak, K McDonald, D McDonald-McGinn, E Zackai, K Sullivan. Clin Immunol 2010
R Zemble, E Luning Prak, K McDonald, D McDonald-McGinn, E Zackai, K Sullivan. Clin Immunol 2010
12
Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.
Alina Guna, Nancy J Butcher, Anne S Bassett. J Neurodev Disord 2015
Alina Guna, Nancy J Butcher, Anne S Bassett. J Neurodev Disord 2015
12
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
7
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
9
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
7
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Evelyn Ning Man Cheung, Susan R George, Danielle M Andrade, Eva W C Chow, Candice K Silversides, Anne S Bassett. Genet Med 2014
Evelyn Ning Man Cheung, Susan R George, Danielle M Andrade, Eva W C Chow, Candice K Silversides, Anne S Bassett. Genet Med 2014
14
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
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Erica Schindewolf, Nahla Khalek, Mark P Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Crowley, Elaine H Zackai, Donna M McDonald-McGinn, Julie S Moldenhauer. Am J Med Genet A 2018
Erica Schindewolf, Nahla Khalek, Mark P Johnson, Juliana Gebb, Beverly Coleman, Terrence Blaine Crowley, Elaine H Zackai, Donna M McDonald-McGinn, Julie S Moldenhauer. Am J Med Genet A 2018
43
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
Genni Enza Marcovecchio, Ileana Bortolomai, Francesca Ferrua, Elena Fontana, Luisa Imberti, Erika Conforti, Donato Amodio, Sonia Bergante, Giulia Macchiarulo, Veronica D'Oria,[...]. Front Immunol 2019
Genni Enza Marcovecchio, Ileana Bortolomai, Francesca Ferrua, Elena Fontana, Luisa Imberti, Erika Conforti, Donato Amodio, Sonia Bergante, Giulia Macchiarulo, Veronica D'Oria,[...]. Front Immunol 2019
22
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
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
7
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
6
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian Thiel, Franz Rüschendorf,[...]. Am J Med Genet A 2006
Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian Thiel, Franz Rüschendorf,[...]. Am J Med Genet A 2006
6
Presenting phenotype in 100 children with the 22q11 deletion syndrome.
Sólveig Oskarsdóttir, Christina Persson, Bengt O Eriksson, Anders Fasth. Eur J Pediatr 2005
Sólveig Oskarsdóttir, Christina Persson, Bengt O Eriksson, Anders Fasth. Eur J Pediatr 2005
6
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
A F Jawad, D M McDonald-Mcginn, E Zackai, K E Sullivan. J Pediatr 2001
A F Jawad, D M McDonald-Mcginn, E Zackai, K E Sullivan. J Pediatr 2001
6
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.
E Graham Davies. Front Immunol 2013
E Graham Davies. Front Immunol 2013
11
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
6
22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress.
W Briegel, M Schneider, K Otfried Schwab. Child Care Health Dev 2008
W Briegel, M Schneider, K Otfried Schwab. Child Care Health Dev 2008
22
Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko. PLoS One 2018
Harini Ravi, Gabriel McNeill, Shruti Goel, Steven D Meltzer, Nathan Hunkapiller, Allison Ryan, Brynn Levy, Zachary P Demko. PLoS One 2018
31
Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test.
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks,[...]. Fetal Diagn Ther 2018
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks,[...]. Fetal Diagn Ther 2018
46
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.