P S Eicher, D M McDonald-Mcginn, C A Fox, D A Driscoll, B S Emanuel, E H Zackai. J Pediatr 2000
Times Cited: 71
Times Cited: 71
Times Cited
Times Co-cited
Similarity
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
28
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
25
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
22
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
21
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
21
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
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.
Beverly A Karpinski, Thomas M Maynard, Matthew S Fralish, Samer Nuwayhid, Irene E Zohn, Sally A Moody, Anthony-S LaMantia. Dis Model Mech 2014
Beverly A Karpinski, Thomas M Maynard, Matthew S Fralish, Samer Nuwayhid, Irene E Zohn, Sally A Moody, Anthony-S LaMantia. Dis Model Mech 2014
36
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
16
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
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.
M Gerdes, C Solot, P P Wang, E Moss, D LaRossa, P Randall, E Goldmuntz, B J Clark, D A Driscoll, A Jawad,[...]. Am J Med Genet 1999
M Gerdes, C Solot, P P Wang, E Moss, D LaRossa, P Randall, E Goldmuntz, B J Clark, D A Driscoll, A Jawad,[...]. Am J Med Genet 1999
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
15
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
D M McDonald-McGinn, D LaRossa, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, P Wang, C Solot, P Schultz,[...]. Genet Test 1997
D M McDonald-McGinn, D LaRossa, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, P Wang, C Solot, P Schultz,[...]. Genet Test 1997
14
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
N Rommel, G Vantrappen, A Swillen, K Devriendt, L Feenstra, J P Fryns. Genet Couns 1999
N Rommel, G Vantrappen, A Swillen, K Devriendt, L Feenstra, J P Fryns. Genet Couns 1999
29
Communication issues in 22q11.2 deletion syndrome: children at risk.
C B Solot, M Gerdes, R E Kirschner, D M McDonald-McGinn, E Moss, M Woodin, D Aleman, E H Zackai, P P Wang. Genet Med 2001
C B Solot, M Gerdes, R E Kirschner, D M McDonald-McGinn, E Moss, M Woodin, D Aleman, E H Zackai, P P Wang. Genet Med 2001
19
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
14
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
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
14
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
14
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
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.
K E Sullivan, A F Jawad, P Randall, D A Driscoll, B S Emanuel, D M McDonald-McGinn, E H Zackai. Clin Immunol Immunopathol 1998
K E Sullivan, A F Jawad, P Randall, D A Driscoll, B S Emanuel, D M McDonald-McGinn, E H Zackai. Clin Immunol Immunopathol 1998
12
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
12
Communication disorders in the 22Q11.2 microdeletion syndrome.
C B Solot, C Knightly, S D Handler, M Gerdes, D M McDonald-McGinn, E Moss, P Wang, M Cohen, P Randall, D Larossa,[...]. J Commun Disord 2000
C B Solot, C Knightly, S D Handler, M Gerdes, D M McDonald-McGinn, E Moss, P Wang, M Cohen, P Randall, D Larossa,[...]. J Commun Disord 2000
21
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A Lindsay, Antonio Baldini. Hum Mol Genet 2002
Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A Lindsay, Antonio Baldini. Hum Mol Genet 2002
12
Skeletal anomalies and deformities in patients with deletions of 22q11.
J E Ming, D M McDonald-McGinn, T E Megerian, D A Driscoll, E R Elias, B M Russell, M Irons, B S Emanuel, R I Markowitz, E H Zackai. Am J Med Genet 1997
J E Ming, D M McDonald-McGinn, T E Megerian, D A Driscoll, E R Elias, B M Russell, M Irons, B S Emanuel, R I Markowitz, E H Zackai. Am J Med Genet 1997
14
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
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.
Peter J Scambler. Pediatr Cardiol 2010
Peter J Scambler. Pediatr Cardiol 2010
12
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
11
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
11
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
11
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
D A Driscoll, N B Spinner, M L Budarf, D M McDonald-McGinn, E H Zackai, R B Goldberg, R J Shprintzen, H M Saal, J Zonana, M C Jones. Am J Med Genet 1992
D A Driscoll, N B Spinner, M L Budarf, D M McDonald-McGinn, E H Zackai, R B Goldberg, R J Shprintzen, H M Saal, J Zonana, M C Jones. Am J Med Genet 1992
11
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
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
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.
Robert G Kelly, Loydie A Jerome-Majewska, Virginia E Papaioannou. Hum Mol Genet 2004
Robert G Kelly, Loydie A Jerome-Majewska, Virginia E Papaioannou. Hum Mol Genet 2004
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
11
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
11
22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.
Thomas M Maynard, Deepak Gopalakrishna, Daniel W Meechan, Elizabeth M Paronett, Jason M Newbern, Anthony-Samuel LaMantia. Hum Mol Genet 2013
Thomas M Maynard, Deepak Gopalakrishna, Daniel W Meechan, Elizabeth M Paronett, Jason M Newbern, Anthony-Samuel LaMantia. Hum Mol Genet 2013
25
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.
Daniel W Meechan, Thomas M Maynard, Eric S Tucker, Alejandra Fernandez, Beverly A Karpinski, Lawrence A Rothblat, Anthony-S LaMantia. Prog Neurobiol 2015
Daniel W Meechan, Thomas M Maynard, Eric S Tucker, Alejandra Fernandez, Beverly A Karpinski, Lawrence A Rothblat, Anthony-S LaMantia. Prog Neurobiol 2015
15
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
Hard to swallow: Developmental biological insights into pediatric dysphagia.
Anthony-Samuel LaMantia, Sally A Moody, Thomas M Maynard, Beverly A Karpinski, Irene E Zohn, David Mendelowitz, Norman H Lee, Anastas Popratiloff. Dev Biol 2016
Anthony-Samuel LaMantia, Sally A Moody, Thomas M Maynard, Beverly A Karpinski, Irene E Zohn, David Mendelowitz, Norman H Lee, Anastas Popratiloff. Dev Biol 2016
27
Altered neurobiological function of brainstem hypoglossal neurons in DiGeorge/22q11.2 Deletion Syndrome.
Xin Wang, Corey Bryan, Anthony-Samuel LaMantia, David Mendelowitz. Neuroscience 2017
Xin Wang, Corey Bryan, Anthony-Samuel LaMantia, David Mendelowitz. Neuroscience 2017
53
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
9
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
9
The velo-cardio-facial syndrome: a clinical and genetic analysis.
R J Shprintzen, R B Goldberg, D Young, L Wolford. Pediatrics 1981
R J Shprintzen, R B Goldberg, D Young, L Wolford. Pediatrics 1981
9
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
C A Smith, D A Driscoll, B S Emanuel, D M McDonald-McGinn, E H Zackai, K E Sullivan. Clin Diagn Lab Immunol 1998
C A Smith, D A Driscoll, B S Emanuel, D M McDonald-McGinn, E H Zackai, K E Sullivan. Clin Diagn Lab Immunol 1998
13
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
D M McDonald-McGinn, D A Driscoll, L Bason, K Christensen, D Lynch, K Sullivan, D Canning, W Zavod, N Quinn, J Rome. Am J Med Genet 1995
D M McDonald-McGinn, D A Driscoll, L Bason, K Christensen, D Lynch, K Sullivan, D Canning, W Zavod, N Quinn, J Rome. Am J Med Genet 1995
9
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
R J Shprintzen, R Goldberg, K J Golding-Kushner, R W Marion. Am J Med Genet 1992
9
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
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
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
17
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.