Bianca Russell

9PUBLICATIONS
22CO-AUTHORS
Cell and nuclear divisionCancer diagnosisEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Neurology and neuromuscular diseases
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Publications (9)

|Sep 10, 2025
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Randee E Young, Lu Qiao, Rebecca Hernan

|Apr 26, 2024
Chromatinopathies - from discovery to clinical diagnosis in the real world.

Bianca E Russell, Wen-Hann Tan

|Feb 08, 2023
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Bianca E Russell, Rebecca R Kianmahd, Chelsea Munster

|Apr 01, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani

|Mar 08, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

Jirat Chenbhanich, Yan Hu, Steven Hetts

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