Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
Times Cited: 346
Times Cited: 346
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
25
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
21
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
16
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
15
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
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
15
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
13
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
12
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
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
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
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
10
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
10
9
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
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
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
9
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
9
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
13
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
26
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
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
8
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
8
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
22q11.21 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
Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
7
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
Maria Karayiorgou, Tony J Simon, Joseph A Gogos. Nat Rev Neurosci 2010
Maria Karayiorgou, Tony J Simon, Joseph A Gogos. Nat Rev Neurosci 2010
7
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
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
22q11 deletion syndrome: current perspective.
Bülent Hacıhamdioğlu, Duygu Hacıhamdioğlu, Kenan Delil. Appl Clin Genet 2015
Bülent Hacıhamdioğlu, Duygu Hacıhamdioğlu, Kenan Delil. Appl Clin Genet 2015
15
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
6
Otolaryngological manifestations of velocardiofacial syndrome: a retrospective review of 35 patients.
L C Ford, S L Sulprizio, B M Rasgon. Laryngoscope 2000
L C Ford, S L Sulprizio, B M Rasgon. Laryngoscope 2000
12
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
8
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome.
Charlotte Van Eynde, Ann Swillen, Elien Lambeens, Nicolas Verhaert, Christian Desloovere, Heleen Luts, Vincent Vander Poorten, Koenraad Devriendt, Greet Hens. J Speech Lang Hear Res 2016
Charlotte Van Eynde, Ann Swillen, Elien Lambeens, Nicolas Verhaert, Christian Desloovere, Heleen Luts, Vincent Vander Poorten, Koenraad Devriendt, Greet Hens. J Speech Lang Hear Res 2016
37
Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.
Elke Loos, Nicolas Verhaert, Annelore Willaert, Koenraad Devriendt, Ann Swillen, Robert Hermans, Katya Op de Beeck, Greet Hens. Am J Med Genet A 2016
Elke Loos, Nicolas Verhaert, Annelore Willaert, Koenraad Devriendt, Ann Swillen, Robert Hermans, Katya Op de Beeck, Greet Hens. Am J Med Genet A 2016
42
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
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
6
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
22
6
Velo-cardio-facial syndrome.
Robert J Shprintzen, Anne Marie Higgins, Kevin Antshel, Wanda Fremont, Nancy Roizen, Wendy Kates. Curr Opin Pediatr 2005
Robert J Shprintzen, Anne Marie Higgins, Kevin Antshel, Wanda Fremont, Nancy Roizen, Wendy Kates. Curr Opin Pediatr 2005
7
Middle and inner ear malformations in velocardiofacial syndrome.
Koenraad Devriendt, Ann Swillen, Isabelle Schatteman, Marc Lemmerling, Ingeborg Dhooge. Am J Med Genet A 2004
Koenraad Devriendt, Ann Swillen, Isabelle Schatteman, Marc Lemmerling, Ingeborg Dhooge. Am J Med Genet A 2004
33
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
5
Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
5
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
5
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
13
Otologic and audiologic findings in 22q11.2 deletion syndrome.
E Verheij, A L Kist, A B Mink van der Molen, I Stegeman, G A van Zanten, W Grolman, H G X M Thomeer. Eur Arch Otorhinolaryngol 2017
E Verheij, A L Kist, A B Mink van der Molen, I Stegeman, G A van Zanten, W Grolman, H G X M Thomeer. Eur Arch Otorhinolaryngol 2017
62
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.