Author

Farid Ullah

Northwestern UniversityORCID 0000-0001-8108-8347Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Assay:whole-exome sequencing· 2 Organism:zebrafish· 2 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Erica E. DavisiD· 3 shared Georgios Kellaris· 2 shared A. Arockia Jeyaprakash· 1 shared Alejandro D. IglesiasiD· 1 shared Aleksandra HelwakiD· 1 shared Alexandre ReymondiD· 1 shared Alyssa L. RippertiD· 1 shared Amy Feldman Lewanda· 1 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Erica E. DavisORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 29, 2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku…·Martha R. C. Bhattacharya

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

2 citations

humanzebrafish

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

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Genetic & Genomic MedicineCellPeer-reviewedAug 1, 2022

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu…·Michael E. Talkowski

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

377 citationstop 1%

humanwhole-exome sequencing

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