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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)

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|Apr 29, 2025

Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Nov 06, 2024

Basic helix-loop-helix transcription factor <i>BHLHE22</i> 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

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Stephanie Efthymiou

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Henry Houlden

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Tipu Sultan

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Dario R Alessi

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Tobias B Haack

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Ayşe Nazlı Başak

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Robert Steinfeld

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Aida M Bertoli-Avella

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Suzanne Lesage

2 joint publications

Peter Bauer

Frequent Collaborators

4 joint publications

Stephanie Efthymiou

4 joint publications

Henry Houlden

4 joint publications

Tipu Sultan

2 joint publications

Dario R Alessi

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