Author

Zoha Kibar

Centre Hospitalier Universitaire Sainte-JustineORCID 0009-0004-6554-0339Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ahmed I. MarwaniD· 1 shared Aida M. S. SalemiD· 1 shared Alan R. ShuldineriD· 1 shared Alexander V. Ludlow· 1 shared Allison E. Ashley‐KochiD· 1 shared Anna AlkelaiiD· 1 shared Anna Yurrita· 1 shared Arzoo M. PateliD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmed I. MarwanORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

The contribution of de novo coding mutations to meningomyelocele

Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine

A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond Blackfan Anemia

Lei Yu, Philippe Lemay, Alexander V. Ludlow, Marie‐Claude Guyot, Morgan Jones, Fatma F. Mohamed, Ghazi-Abdullah Saroya, Christopher Panaretos, Emily Schneider, Yu Wang, Greggory Myers, Rami N. Khoriaty, Qing Li, Renny T. Franceschi, James Douglas Engel, , Sharon A Singh

This paper describes a novel Rpl5 mutation in mice that models Diamond Blackfan Anemia with variable penetrance and anemia remission.

Blood Advances · Aug 31, 2021Peer-reviewedDevelopmental Biology