Javeria Raza Alvi

5PUBLICATIONS
135CO-AUTHORS
NeurogeneticsBiomechanical engineeringMedical biochemistry - proteins and peptides (incl. medical proteomics)Haematological tumoursDevelopmental genetics (incl. sex determination)
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Publications (5)

|Apr 29, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Nov 06, 2024
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Jun 27, 2024
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum.

Eboni M V Bucknor, Errin Johnson, Stephanie Efthymiou

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

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Frequent Collaborators

4 joint publications

Stephanie Efthymiou

4 joint publications

Henry Houlden

4 joint publications

Tipu Sultan

2 joint publications

Dario R Alessi