Amelle Shillington

18PUBLICATIONS
109CO-AUTHORS
NeurogeneticsMedical molecular engineering of nucleic acids and proteinsCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (18)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Jul 01, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

|Mar 31, 2026
Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans.

Pei Xin Boon, Amaia Jauregi-Miguel, S Suheda Yasarbas

|Nov 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Somin Jo, Christine Lee, Lori White

|Nov 08, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.

Kristin Theobald, Amelle Shillington, Farrah Jackson

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

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Frequent Collaborators

2 joint publications

Robert Hopkin

2 joint publications

Claire Beneteau

2 joint publications

Himanshu Goel

2 joint publications

Alain Verloes