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Author/Creator Swillen, Ann

1. A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features. Issue 4 (October 2020)

Authors:
Sleyp, Yoeri; Swillen, Ann; Van Den Bogaert, Kris; Massa, Guy; Aerssens, Peter; Peeters, Hilde
Journal:
Clinical dysmorphology
Issue:
Volume 29:Issue 4(2020:Oct.)
Page Start:
Record Type:
Journal Article
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2. Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. (13th July 2019)

Authors:
Vervoort, Lisanne; Demaerel, Wolfram; Rengifo, Laura Y; Odrzywolski, Adrian; Vergaelen, Elfi; Hestand, Matthew S; Breckpot, Jeroen; Devriendt, Koen; Swillen, Ann; McDonald-McGinn, Donna M; Fiksinski, Ania M; Zinkstok, Janneke R; Morrow, Bernice E; Heung, Tracy; Vorstman, Jacob A S; Bassett, Anne ...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 22(2019)
Page Start:
3724
Record Type:
Journal Article
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4. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. (18th January 2018)

Authors:
Guo, Tingwei; Diacou, Alexander; Nomaru, Hiroko; McDonald-McGinn, Donna M; Hestand, Matthew; Demaerel, Wolfram; Zhang, Liangtian; Zhao, Yingjie; Ujueta, Francisco; Shan, Jidong; Montagna, Cristina; Zheng, Deyou; Crowley, Terrence B; Kushan-Wells, Leila; Bearden, Carrie E; Kates, Wendy R; Gothelf,...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1150
Record Type:
Journal Article
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8. Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID). (October 2018)

Authors:
Van Den Heuvel, Ellen; Jonkers, Evi; Rombouts, Ellen; Manders, Eric; Zink, Inge; Swillen, Ann
Journal:
Research in developmental disabilities
Issue:
Volume 81(2018)
Page Start:
89
Record Type:
Journal Article
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9. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. (October 2017)

Authors:
Guo, Tingwei; Repetto, Gabriela M.; McDonald McGinn, Donna M.; Chung, Jonathan H.; Nomaru, Hiroko; Campbell, Christopher L.; Blonska, Anna; Bassett, Anne S.; Chow, Eva W.C.; Mlynarski, Elisabeth E.; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena...
Journal:
Circulation
Issue:
Volume 10:Number 5(2017)
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Record Type:
Journal Article
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