Publications by authors named "Erik Boot"

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Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review.
Nikolai Gil D Reyes, Daniel G Di Luca, Connie Marras, Erik Boot, Ryan K C Yuen

Mov Disord Clin Pract· December 2025

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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
Tanner J Nelson, Daniel E McGinn, T Blaine Crowley, Lydia Rockart, Audrey Green, Erik Boot

Clin Genet· December 2025

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Towards Personalised Care for Rare Genetic Disorders.
Agnies M van Eeghen, Erik Boot

J Intellect Disabil Res· September 2025

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Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study.
Emma N M M von Scheibler, Ann Swillen, Gabriela M Repetto, Nikolai Gil D Reyes, Anthony E Lang, Erik Boot

Mov Disord Clin Pract· June 2025

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Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.
Nikolai Gil D Reyes, Talyta Grippe, Marcus Callister, Tarig Abkur, Emilio Q Villanueva, Erik Boot

Eur J Neurol· June 2025

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Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion.
Hester Jaspers Faijer-Westerink, Emma N M M von Scheibler, Elisabeth F C van Rossum, Mieke M van Haelst, Claudia Vingerhoets, Erik Boot

Int J Obes (Lond)· April 2025

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Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.
Lily Van, Tracy Heung, Nikolai Gil D Reyes, Erik Boot, Eva W C Chow

Can J Psychiatry· March 2025

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Parkinsonism in people with intellectual disability.
Erik Boot, Agnies M van Eeghen, Bas R Bloem, Bart P van de Warrenburg, Maarten Cuypers

Parkinsonism Relat Disord· November 2024

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Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.
Claudia Vingerhoets, Julia Ruiz-Fernandez, Emma von Scheibler, Elfi Vergaelen, Nele Volbragt, Erik Boot

BJPsych Open· November 2024

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
Annelieke R Müller, Erik Boot, Stijn B Notermans, Carlo Schuengel, Lidewij Henneman

Orphanet J Rare Dis· September 2024

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Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Elizabeth Goldmuntz, Anne S Bassett, Erik Boot, Bruno Marino, Julie S Moldenhauer

Prenat Diagn· June 2024

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Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Hadassa Kwetsie, Malu van Schaijk, Sven Van Der Lee, Dederieke Maes-Festen, Leontine W Ten Hoopen, Erik Boot

Neurology· June 2024

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Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Annelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, Dick H C Kampman, Lianne Bakkum, Erik Boot

Ther Adv Rare Dis· April 2024

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Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
Dorinde Korteling, Jiska L I Musch, Janneke R Zinkstok, Erik Boot

Am J Med Genet B Neuropsychiatr Genet· March 2024

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Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2.
Emma N M M von Scheibler, Josine C C Widdershoven, Denise C P B M van Barneveld, Nina Schröder, Agnies M van Eeghen, Erik Boot

Am J Med Genet A· March 2024

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Approaches to studying the impact of 22q11.2 copy number variants.
Anne S Bassett, Donna M McDonald-McGinn, Erik Boot, Sólveig Óskarsdóttir, Ryan K C Yuen

Am J Hum Genet· July 2023

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Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic Variant.
Cathelijne C Linders, Agnies M van Eeghen, Janneke R Zinkstok, Marie-José van den Boogaard, Erik Boot

Genes (Basel)· July 2023

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Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome.
Maurice Pasternak, Zahra Shirzadi, Henk J M M Mutsaerts, Erik Boot, Nancy J Butcher

World J Biol Psychiatry· March 2023

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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Erik Boot, Sólveig Óskarsdóttir, Joanne C Y Loo, Terrence Blaine Crowley, Ani Orchanian-Cheff

Genet Med· March 2023

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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Sólveig Óskarsdóttir, Erik Boot, Terrence Blaine Crowley, Joanne C Y Loo, Jill M Arganbright

Genet Med· March 2023

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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Erik Boot

Genes (Basel)· January 2023

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Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
Emma N M M von Scheibler, Agnies M van Eeghen, Tom J de Koning, Mark L Kuijf, Janneke R Zinkstok, Erik Boot

Mov Disord Clin Pract· January 2023

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Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.
Erik Boot, Connie Marras, Anne S Bassett

Eur J Hum Genet· December 2022

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Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.
Tracy Heung, Brigid Conroy, Sarah Malecki, Joanne Ha, Erik Boot

Genes (Basel)· November 2022

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Post-traumatic stress in adults with 22q11.2 deletion syndrome.
Emma N M M von Scheibler, Thérèse A M J van Amelsvoort, Claudia Vingerhoets, Agnies M van Eeghen, Erik Boot

BJPsych Open· July 2022

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