Ann Swillen (A Swillen)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 24

Top Venues

Genes

Journal of endocrinological investigation

American journal of medical genetics. Part A

NPJ genomic medicine

KU Leuven

KU Leuven (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

KU Leuven Oct 01 2001

Belgium

Professor :: Department of Rehabilitation Sciences

KU Leuven Oct 01 2001

Belgium

Professor :: Department of Human Genetics

Education History

KU Leuven Mar 01 1990

Belgium

PHD :: Department of Human Genetics

Publications

E Soubry, Karel David, Ann Swillen, Elfi Vergaelen, M Docx Op de Beeck, M Hulsmans, Sara Charleer, Brigitte Decallonne
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. Journal of endocrinological investigation 47 (7) (2024)
E Soubry, Karel David, Ann Swillen, Elfi Vergaelen, M Docx Op de Beeck, M Hulsmans, Sara Charleer, Brigitte Decallonne
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. Journal of endocrinological investigation 47 (7) (2024)
E Soubry, Karel David, Ann Swillen, Elfi Vergaelen, M Docx Op de Beeck, M Hulsmans, Sara Charleer, Brigitte Decallonne
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. Journal of endocrinological investigation (2024)
E Soubry, Karel David, Ann Swillen, Elfi Vergaelen, M Docx Op de Beeck, M Hulsmans, Sara Charleer, Brigitte Decallonne
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. Journal of endocrinological investigation 47 (7) (2024)
E Soubry, Karel David, Ann Swillen, Elfi Vergaelen, M Docx Op de Beeck, M Hulsmans, Sara Charleer, Brigitte Decallonne
Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. Journal of endocrinological investigation 47 (7) (2024)
Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants, Erika Souche, Ruben Cools, Tracy Heung, Koen Devriendt, Hilde Peeters, Donna M McDonald-McGinn, Ann Swillen, Jeroen Breckpot, Beverly S Emanuel, Hilde Van Esch, Anne Susan Bassett, Joris Robert Vermeesch
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome. bioRxiv : the preprint server for biology (2024)
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariëtte J V Hoffer, Cindy Melotte, Arie Van Haeringen, Ann Swillen, Jeroen Breckpot
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt. American journal of medical genetics. Part A (2023)
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Daniel E McGinn, Oanh T Tran, Daniella Miller, Jhih-Rong Lin, Elaine H Zackai, H Richard Johnston, Eva W C Chow, Jacob A S Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris Robert Vermeesch, Stephan Eliez, Maude Schneider, Marianne B M van den Bree, Michael J Owen, Wendy R Kates, Gabriela M Repetto, Vandana Shashi, Kelly Schoch, Carrie E Bearden, M Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C Murphy, Declan G M Murphy, Sixto García-Miñaúr, Luis Fernández, null null, Zhengdong D Zhang, Elizabeth Goldmuntz, Raquel E Gur, Beverly S Emanuel, Deyou Zheng, Christian R Marshall, Anne Susan Bassett, Tao Wang, Bernice E Morrow
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. NPJ genomic medicine 8 (1) (2023)
Jente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, Terrence Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M McDonald-McGinn, Inge Zink, Ann Swillen
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants. Genes 14 (3) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Martijn Van Dooren, Robin De Croon, Ann Swillen, Katrien Verbert
Bridging the Communication Gap Between People With Cognitive Impairments and Their Caregivers Using mHealth Apps: User-Centered Design and Evaluation Study With People With 22q11 Deletion Syndrome. JMIR human factors 10 (2023)
Jente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, Terrence Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M McDonald-McGinn, Inge Zink, Ann Swillen
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants. Genes 14 (3) (2023)
Jente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, Terrence Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M McDonald-McGinn, Inge Zink, Ann Swillen
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants. Genes 14 (3) (2023)
Jhih-Rong Lin, Yingjie Zhao, M Reza Jabalameli, Nha Nguyen, Joydeep Mitra, null null, Ann Swillen, Jacob A S Vorstman, Eva W C Chow, Marianne van den Bree, Beverly S Emanuel, Joris R Vermeesch, Michael J Owen, Nigel M Williams, Anne Susan Bassett, Donna M McDonald-McGinn, Raquel E Gur, Carrie E Bearden, Bernice E Morrow, Herbert M Lachman, Zhengdong D Zhang
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia. Molecular psychiatry (2023)
Yumi Dille, Lieven Lagae, Ann Swillen, Griet Van Buggenhout
Neurodevelopmental profile and stages of regression in Phelan-McDermid syndrome. Developmental medicine and child neurology (2022)
Jente Verbesselt, Ellen Van Den Heuvel, Jeroen Breckpot, Inge Zink, Ann Swillen
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings. Genes 13 (10) (2022)
Daniel E McGinn, Terrence Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H Zackai, Beverly S Emanuel, Eva W C Chow, Bernice E Morrow, Ann Swillen, Anne Susan Bassett, Donna M McDonald-McGinn
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome. Genes 13 (10) (2022)
Jente Verbesselt, Inge Zink, Jeroen Breckpot, Ann Swillen
Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. American journal of medical genetics. Part A (2021)
Gilles Droogmans, Elfi Vergaelen, Griet Van Buggenhout, Ann Swillen
Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome. Journal of applied research in intellectual disabilities : JARID 34 (4) (2021)
Robert William Davies, Ania M Fiksinski, Elemi J Breetvelt, Nigel M Williams, Stephen R Hooper, Thomas Monfeuga, Anne Susan Bassett, Michael J Owen, Raquel E Gur, Bernice E Morrow, Donna M McDonald-McGinn, Ann Swillen, Eva W C Chow, Marianne van den Bree, Beverly S Emanuel, Joris R Vermeesch, Therese van Amelsvoort, Celso Arango, Marco Armando, Linda E Campbell, Joseph F Cubells, Stephan Eliez, Sixto Garcia-Minaur, Doron Gothelf, Wendy R Kates, Kieran C Murphy, Clodagh M Murphy, Declan G M Murphy, Nicole Philip, Gabriela M Repetto, Vandana Shashi, Tony J Simon, Damiàn Heine Suñer, Stefano Vicari, Stephen W Scherer, null null, Carrie E Bearden, Jacob A S Vorstman
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. Nature medicine 26 (12) (2020)
Ann Swillen, Edward Moss, Sasja Duijff
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management. American journal of medical genetics. Part A 176 (10) (2018)
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, Sixto García-Miñaúr, Susan George, Anthony E Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M McDonald-McGinn, Anne S Bassett
Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 17 (8) (2015)

Ann Swillen.css-eqlu8i{font-size:small;padding-left:4px;} (A Swillen)

Publication Activity (10 Years)

Top Topics

Top Venues

Ann Swillen (A Swillen)