Aia Elise Jønch

Employment

• Odense University Hospital MD. Ph.D.
  2025 - Present
• Roskilde University MD
  2024 - 2025
• Odense Municipality MD
  2018 - 2023
• Syddansk Universitet Det Sundhedsvidenskabelige Fakultet PhD Student
  2015 - 2019
• Centre Hospitalier Universitaire Vaudois Research Assistant
  2014 - 2015
• The Kenndy Center Denmark Clinical Geneticist
  2014 - 2014
• The Kennedy Center Denmark Residency/MD
  2013 - 2014
• The Kennedy Center Denmark Residency/MD
  2012 - 2012
• Odense Universitetshospital Residency/MD
  2012 - 2013
• The Danish Epilepsy Center, Filadelfia Residency/MD
  2011 - 2012
• The Kennedy Center Denmark Residency/MD
  2010 - 2011
• The Kennedy Center Denmark Assistant Dr.
  2008 - 2009
• Copenhagen University Hospital Assistant Dr.
  2007 - 2008
• Copenhagen University Hospital Assistant Dr.
  2007 - 2007
• General Practitioners in Svinninge Internship/Assistant Dr.
  2006 - 2007
• Gentofte Hospital Internship/Assistant Dr.
  2005 - 2005
• Gentofte Hospital Internship/Assistant Dr.
  2004 - 2005

Education

• University of Southern Denmark Faculty of Healths Sciences Ph.D Student
  2015 - 2019
• Danish National Board of Health certfied Clinical Geneticist
  2010 - 2014
• University of Copenhagen Faculty of Health Sciences Master of Medicine
  ? - 2004

Projects & Funding

Projects & funding information is unavailable.

Publications (17)

• Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
  Aia Elise Jønch, Elise A. Douard, Clara A. Moreau +25 more
  Journal of medical genetics 2019 DOI: 10.1136/jmedgenet-2018-105879
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• Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
  Human molecular genetics 2018 DOI: 10.1093/hmg/ddy291
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• Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
  Human molecular genetics 2018 DOI: 10.1093/hmg/ddy099
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• Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
  Biological psychiatry 2018 DOI: 10.1016/j.biopsych.2018.02.1176
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• Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
  Nature reviews. Drug discovery 2017 DOI: 10.1038/nrd.2017.221
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• The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
  Maria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch +44 more
  American journal of human genetics 2017 DOI: 10.1016/j.ajhg.2017.08.016
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• Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
  2016 DOI: 10.1001/jamapsychiatry.2015.2123
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• A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance.
  2015 DOI: 10.1155/2015/683938
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• Erratum: Emerging topics in FXTAS.
  2015 DOI: 10.1186/s11689-015-9108-7
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• [Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].
  2014
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• [From intellectual disability to new treatment modalities of fragile X syndrome.]
  2014
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• Emerging topics in FXTAS.
  2014 DOI: 10.1186/1866-1955-6-31
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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 DOI: 10.1002/ajmg.a.35505
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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 DOI: 10.1016/j.ejmg.2012.03.003
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• Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
  2012 DOI: 10.1186/1471-2377-12-108
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• Huntington's disease: effect of memantine on FDG-PET brain metabolism?
  2011 DOI: 10.1176/jnp.23.2.jnp206
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• A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
  2009 DOI: 10.1136/jmg.2008.065094
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