Naif Almontashiri

21PUBLICATIONS
49CO-AUTHORS
HaematologyMedical infection agents (incl. prions)Gene mappingCancer geneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (21)

|Jul 01, 2026
Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

|Feb 27, 2026
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Keri-Lyn Kozul, Ali AlAsmari, Essa Alharby

|Oct 23, 2025
Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss.

Naif A M Almontashiri

|Sep 27, 2025
Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.

Khaled K Abu-Amero, Altaf A Kondkar, Naif A M Almontashiri

|Jun 29, 2025
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.

Faeeqah Almhmoudi, Ghufran Abudawood, Arif O Khan

|Dec 26, 2024
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects.

Naif A M Almontashiri, Aziza Mushiba, Haya Alruqi

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Frequent Collaborators

2 joint publications

Fowzan S Alkuraya

2 joint publications

Martin Zenker

2 joint publications

Denny Schanze

2 joint publications

Henry Houlden