Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
Times Cited: 354
Times Cited: 354
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
19
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
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
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
14
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
12
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
12
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
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
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
10
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
10
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
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
10
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
10
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
10
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
12
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
9
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
23
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
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
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
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
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
9
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
7
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
7
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
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
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
7
7
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
24
7
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
7
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
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 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
10
An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome.
Kathleen Angkustsiri, Ingrid Leckliter, Nicole Tartaglia, Elliott A Beaton, Janice Enriquez, Tony J Simon. J Dev Behav Pediatr 2012
Kathleen Angkustsiri, Ingrid Leckliter, Nicole Tartaglia, Elliott A Beaton, Janice Enriquez, Tony J Simon. J Dev Behav Pediatr 2012
14
Risk factors and the evolution of psychosis in 22q11.2 deletion syndrome: a longitudinal 2-site study.
Doron Gothelf, Maude Schneider, Tamar Green, Martin Debbané, Amos Frisch, Bronwyn Glaser, Hadas Zilkha, Marie Schaer, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2013
Doron Gothelf, Maude Schneider, Tamar Green, Martin Debbané, Amos Frisch, Bronwyn Glaser, Hadas Zilkha, Marie Schaer, Abraham Weizman, Stephan Eliez. J Am Acad Child Adolesc Psychiatry 2013
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
9
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
12
Fetal phenotype associated with the 22q11 deletion.
Anne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, Louise Devisme, Laurence Loeuillet, Brigitte Leroy, Alain Martin, Raymonde Bouvier, Annie Laquerriere, Corinne Jeanne-Pasquier,[...]. Am J Med Genet A 2014
Anne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, Louise Devisme, Laurence Loeuillet, Brigitte Leroy, Alain Martin, Raymonde Bouvier, Annie Laquerriere, Corinne Jeanne-Pasquier,[...]. Am J Med Genet A 2014
17
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
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
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
11
Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.
Scott Lawrence, Donna M McDonald-McGinn, Elaine Zackai, Kathleen E Sullivan. J Pediatr 2003
Scott Lawrence, Donna M McDonald-McGinn, Elaine Zackai, Kathleen E Sullivan. J Pediatr 2003
9
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
5
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
5
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
10
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.