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Aia Elise Jønch

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
2017 · Elizabeth M. Berry-Kravis, Lothar Lindemann, et al. · Nature Reviews Drug Discovery · 342
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
2015 · Debra D’Angelo, Sébastien Lebon, et al. · JAMA Psychiatry · 285
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Emerging topics in FXTAS
2014 · Deborah A Hall, Rachael C Birch, et al. · Journal of Neurodevelopmental Disorders · 112
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A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome
2009 · L Roos, A E Jønch, et al. · Journal of Medical Genetics · 111
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
2019 · Aia Elise Jønch, Elise Douard, et al. · Journal of Medical Genetics · 81
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
2018 · Sandra Martin-Brevet, Borja Rodríguez-Herreros, et al. · Biological Psychiatry · 75
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Protein synthesis levels are increased in a subset of individuals with fragile X syndrome
2018 · Sébastien Jacquemont, Laura Pacini, et al. · Human Molecular Genetics · 73
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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
2017 · Jessica Le Gall, Mathilde Nizon, et al. · European Journal of Human Genetics · 55
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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
2020 · Adrian Palencia-Campos, Phillip C. Aoto, et al. · The American Journal of Human Genetics · 53
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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
2017 · Maria Nicla Loviglio, Thomas Arbogast, et al. · The American Journal of Human Genetics · 39
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
2012 · Kerstin Becker, Nataliya Di Donato, et al. · European Journal of Medical Genetics · 25
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome
2018 · Sébastien Jacquemont, Laura Pacini, et al. · Human Molecular Genetics · 24
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Huntington's Disease: Effect of Memantine on FDG-PET Brain Metabolism?
2011 · L. E. Hjermind, I. Law, et al. · Journal of Neuropsychiatry · 15
Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature
2022 · Julie Loft Nagel, Aia Elise Jønch, et al. · BMJ Case Reports · 11
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Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus
2012 · Aia E. Jønch, Lise G. Larsen, et al. · American Journal of Medical Genetics Part A · 9
A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
2015 · Christian Grønhøj Larsen, Mette Gyldenløve, et al. · Case Reports in Otolaryngology · 8
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Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy
2012 · Aia Elise Jønch, Else Rubæk Danielsen, et al. · BMC Neurology · 6
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The General Impact of Haploinsufficiency on Brain Connectivity Underlies the Pleiotropic Effect of Neuropsychiatric CNVS
2021 · Clara Moreau, Guillaume Huguet, et al. · Biological Psychiatry · 4
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Erratum: Emerging topics in FXTAS
2015 · Deborah A Hall, Rachael C Birch, et al. · Journal of Neurodevelopmental Disorders · 3
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Reflections on Clinical Trials in Fragile X Syndrome
2017 · Aia E. Jønch, Sébastien Jacquemont · Elsevier eBooks · 2
Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report
2025 · Mads E. Hauberg, Aia E. Jønch, et al. · European Journal of Medical Genetics · 1
F75the True Contribution of the 15q11.2 Bp1-bp2 Deletion to Neurodevelopmental Symptoms
2019 · Aia Jønch, Elise Douard, et al. · European Neuropsychopharmacology · 1
Pb1998: Azacytidine and Allogenous Stem Cell Transplantation in Late-onset Erythropoietic Protoporphyria
2023 · Daniel El Fassi, Aia Elise Jønch, et al. · HemaSphere
Cognitive, behavioral and molecular correlates of the 15q11.2 copy number variants
2019 · Aia Elise Jønch · University of Southern Denmark Research Portal (University of Southern Denmark)
Contributors
2017 · Han Bao, Mark F. Bear, et al. · Elsevier eBooks
Works count: 30
Citation count: 1,374
H-index: 14
I10-index: 15
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