Author

Amal Mohammed Alhashem

Riyadh Armed Forces HospitalORCID 0000-0002-9668-7809Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:imaging· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Brahim M. TabarkiiD· 2 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Adele RuderiD· 1 shared Alberto De RosaiD· 1 shared Alexander HustinxiD· 1 shared Alexandra KelleriD· 1 shared Aly Elsayed· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetics

Brahim M. TabarkiORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases

Eike Bolmer, Philipp Schmidt, Isabel Fischer, Sebastian Rassmann, Adele Ruder, Alexander Hustinx, Aron Kirchhoff, Christoph Beger, Kyra Skaf, Minu Fardipour, Tzung‐Chien Hsieh, Alexandra Keller, Alberto De Rosa, Silvia Kalantari, Fabio Sirchia, , Behnam Javanmardi

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

medRxiv · Mar 27, 2026 · PreprintGenetic & Genomic Medicine

A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans

Rawan Alsafeh, Amal Mohammed Alhashem, Aly Elsayed, Zafer Yüksel, Kalthoum Graies-Tlili, Farah Chedly Thabet, Brahim M. Tabarki

This study identifies a CLASP1 variant in a consanguineous family linked to lissencephaly, showing it disrupts microtubule interactions and contributes to brain development defects.

bioRxiv · Mar 12, 2024 · PreprintGenetics

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, Ina Sorge, Dagmar Wieczorek, Kevin M. Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan Sami Alkuraya, Mais O. Hashem, Amal Mohammed Alhashem, Brahim M. Tabarki, Abdullah Alamri, Ayat H. Al Safar, Dalal Bubshait, , Konrad Platzer

The American Journal of Human Genetics · Jul 12, 2022Peer-reviewedGenetic & Genomic Medicine