Author

Shahryar Alavi

UCL Queen Square Institute of NeurologyORCID 0000-0002-3484-3423Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Henry HouldeniD· 4 shared Reza MaroofianiD· 4 shared Fowzan Sami AlkurayaiD· 3 shared Maha Saad ZakiiD· 3 shared Stéphanie EfthymiouiD· 3 shared Annarita ScardamagliaiD· 2 shared David P. MurphyiD· 2 shared Ehsan Ghayoor KarimianiiD· 2 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Henry HouldenORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJan 21, 2026

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Heba Morsy, Hyeonho Kim, Gyubin Jang…·Reza Maroofian

This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.

1 citation

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintMay 10, 2024

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

2 citations

humanDrosophila

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Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

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