Louise S Bicknell

16PUBLICATIONS
27CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Anthropological geneticsMolecular targetsNeurology and neuromuscular diseasesGene mapping
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Publications (16)

|Jul 18, 2026
Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.

|Apr 06, 2025
The genetic basis of human height.

Louise S Bicknell, Joel N Hirschhorn, Ravi Savarirayan

|Mar 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Silvestre Cuinat, Nicolas Chatron, Florence Petit

|Nov 20, 2024
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Priyanka Sandal, Chian Ju Jong, Ronald A Merrill

|Mar 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45.

Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows

|Nov 08, 2023
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

Bridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires

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Frequent Collaborators

3 joint publications

Meghan R Mulligan

2 joint publications

Bridget J Fellows

1 joint publications

Gemma Poke

1 joint publications

Alexander J M Blakes