Aia E. Jonch

Odense, Denmark

Last Updated: 09/26/2026

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Found 18 publications

Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report.

Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report.

Journal: European journal of medical genetics

Published: May 29, 2024

Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.

Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.

Journal: BMJ case reports

Published: April 13, 2022

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Journal: American journal of human genetics

Published: April 28, 2020

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Journal: Journal of medical genetics

Published: November 14, 2018

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Journal: Human molecular genetics

Published: June 20, 2018

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Journal: Human molecular genetics

Published: January 24, 2018

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Journal: Nature reviews. Drug discovery

Published: December 09, 2017

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Journal: Biological psychiatry

Published: October 18, 2017

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

Journal: American journal of human genetics

Published: June 21, 2017

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Journal: European journal of human genetics : EJHG

Published: June 30, 2016

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

Journal: JAMA psychiatry

Published: December 03, 2015

Erratum: Emerging topics in FXTAS.

Erratum: Emerging topics in FXTAS.

Journal: Journal of neurodevelopmental disorders

Published: March 09, 2015

Showing 1-12 of 18

Last Updated: 09/26/2026