Author

Tazeen Ashraf

Great Ormond Street HospitalORCID 0000-0002-1081-6965Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander J.M. DingemansiD· 1 shared Alexander P.A. StegmanniD· 1 shared Alison M. MaleiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amir BahreiniiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared Arthur SorliniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander J.M. DingemansORCID

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2 papers

Recent·Most cited

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, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S. Abdel‐Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Nautiyal Murali, Varun Kannan, , 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.

medRxiv · Feb 9, 2024 · PreprintGenetic & Genomic Medicine

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat‐Houari, Brad Angle, Nicolas Chatron, the DDD study, Anne‐Sophie Denommé‐Pichon, Orrin Devinsky, , Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

Genetics in Medicine · Jul 14, 2022Peer-reviewedGenetic & Genomic Medicine