A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur, A Aurias, F L Raymond, J Clayton-Smith, E Hatchwell, C McKeown, F A Beemer, B Dallapiccola, G Novelli, J A Hurst, J Ignatius, A J Green, R M Winter, L Brueton, K Brøndum-Nielsen, P J Scambler. J Med Genet 1997
Times Cited: 819
Times Cited: 819
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
36
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
22
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
22
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
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
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
18
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
16
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
15
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
15
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
15
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
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
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
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
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
11
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
11
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
11
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
11
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
11
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
13
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
11
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, Deborah A Driscoll, Donna M McDonald-McGinn, Melissa K Maisenbacher, Jill M Yersak, Prabir K Chakraborty, April M Hacker, Elaine H Zackai,[...]. Hum Mol Genet 2004
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, Deborah A Driscoll, Donna M McDonald-McGinn, Melissa K Maisenbacher, Jill M Yersak, Prabir K Chakraborty, April M Hacker, Elaine H Zackai,[...]. Hum Mol Genet 2004
9
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
9
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
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
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
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
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.
Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu'Lock, Helen Firth, Andrew Gennery, Anthony Holland,[...]. Eur J Pediatr 2014
Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu'Lock, Helen Firth, Andrew Gennery, Anthony Holland,[...]. Eur J Pediatr 2014
25
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship. J Med Genet 1993
J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship. J Med Genet 1993
7
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
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers,[...]. N Engl J Med 2017
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers,[...]. N Engl J Med 2017
11
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
Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.
Huansheng Xu, Masae Morishima, John N Wylie, Robert J Schwartz, Benoit G Bruneau, Elizabeth A Lindsay, Antonio Baldini. Development 2004
Huansheng Xu, Masae Morishima, John N Wylie, Robert J Schwartz, Benoit G Bruneau, Elizabeth A Lindsay, Antonio Baldini. Development 2004
7
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.
M C Digilio, A Angioni, M De Santis, A Lombardo, A Giannotti, B Dallapiccola, B Marino. Clin Genet 2003
M C Digilio, A Angioni, M De Santis, A Lombardo, A Giannotti, B Dallapiccola, B Marino. Clin Genet 2003
9
Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.
M Louise Markert, Blythe H Devlin, Marilyn J Alexieff, Jie Li, Elizabeth A McCarthy, Stephanie E Gupton, Ivan K Chinn, Laura P Hale, Thomas B Kepler, Min He,[...]. Blood 2007
M Louise Markert, Blythe H Devlin, Marilyn J Alexieff, Jie Li, Elizabeth A McCarthy, Stephanie E Gupton, Ivan K Chinn, Laura P Hale, Thomas B Kepler, Min He,[...]. Blood 2007
7
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Antonia Kwan, Roshini S Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Jordan K Abbott, Mei Baker, Mark Ballow, Louis E Bartoshesky, Francisco A Bonilla,[...]. JAMA 2014
Antonia Kwan, Roshini S Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Jordan K Abbott, Mei Baker, Mark Ballow, Louis E Bartoshesky, Francisco A Bonilla,[...]. JAMA 2014
6
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).
M C Digilio, C Pacifico, L Tieri, B Marino, A Giannotti, B Dallapiccola. Br J Audiol 1999
M C Digilio, C Pacifico, L Tieri, B Marino, A Giannotti, B Dallapiccola. Br J Audiol 1999
11
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
6
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
D A Driscoll, J Salvin, B Sellinger, M L Budarf, D M McDonald-McGinn, E H Zackai, B S Emanuel. J Med Genet 1993
D A Driscoll, J Salvin, B Sellinger, M L Budarf, D M McDonald-McGinn, E H Zackai, B S Emanuel. J Med Genet 1993
6
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.
Evelyn Ning Man Cheung, Susan R George, Gary A Costain, Danielle M Andrade, Eva W C Chow, Candice K Silversides, Anne S Bassett. Clin Endocrinol (Oxf) 2014
Evelyn Ning Man Cheung, Susan R George, Gary A Costain, Danielle M Andrade, Eva W C Chow, Candice K Silversides, Anne S Bassett. Clin Endocrinol (Oxf) 2014
15
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
6
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
16
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
11
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome.
Kazuo Momma. Am J Cardiol 2010
Kazuo Momma. Am J Cardiol 2010
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
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.
Adriano Carotti, Maria Cristina Digilio, Gerardo Piacentini, Claudia Saffirio, Roberto M Di Donato, Bruno Marino. Dev Disabil Res Rev 2008
Adriano Carotti, Maria Cristina Digilio, Gerardo Piacentini, Claudia Saffirio, Roberto M Di Donato, Bruno Marino. Dev Disabil Res Rev 2008
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.