Author

Shazia Maqbool

National Hospital for Neurology and NeurosurgeryORCID 0000-0003-1454-3623Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:experimental assay· 3 Approach:statistical model· 2 Assay:ATAC-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Fatima RahmaniD· 3 shared Henry HouldeniD· 3 shared Reza MaroofianiD· 3 shared Stéphanie EfthymiouiD· 3 shared Pradeep C. VasudevaniD· 2 shared Abolfazl Heidari· 1 shared Adam JacksoniD· 1 shared Aisha Nasir HashmiiD· 1 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Fatima RahmanORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 26, 2026

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

James Lambton, Shotaro Asano, Yuxiang Huang…·Robert William Taylor

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

3 citationstop 1%

humanyeast

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Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang…·Naiara Akizu

1 citation

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintDec 24, 2021

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

Ricardo Harripaul, Ansa Rabia, Nasim Vasli…·John B. Vincent

3 citations

humanwhole-exome sequencing

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GenomicsHuman GenomicsPeer-reviewedJul 13, 2021

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng…·Tychele N. Turner

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

27 citations

humanwhole-genome sequencing

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