Amelle Shillington

20PUBLICATIONS
115CO-AUTHORS
Medical virologyNeurogeneticsMedical molecular engineering of nucleic acids and proteinsCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)
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Publications (20)

|Sep 17, 2026
Moebius-Plus Phenotype With Positive RCEM Episignature May Indicate Broader Embryologic Malformation Spectrum Detectable by Methylation Profiling.

|Sep 02, 2026
Expanding the Genotypic and Phenotypic Spectrum of Vissers-Bodmer Syndrome.

|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

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Frequent Collaborators

3 joint publications

Robert J Hopkin

2 joint publications

Himanshu Goel

2 joint publications

Yaning Wu

2 joint publications

Claire Beneteau