Basamat Almoallem (Basamat AlMoallem)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 6

Top Topics

Autism Spectrum Disorder

Top Venues

Ophthalmic genetics

Clinical genetics

Scientific reports

European journal of ophthalmology

This page only lists publications with an associated author ORCID identifier.

Publications

Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics 106 (2) (2024)
Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey, Quinten Mahieu, Mattias Van Heetvelde, Laila Jeddawi, Miriam Bauwens, Elfriede De Baere
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform. Clinical genetics (2024)
Muhannad Alkhalifah, Hani AlMezaine, Basamat Almoallem
Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report. Ophthalmic genetics (2023)
Basamat Almoallem, Essam Alharthi
Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report. Ophthalmic genetics 43 (3) (2022)
Hanan Jamjoom, Mohamed Osman, Basamat Almoallem, Essam A Osman
Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report. European journal of ophthalmology (2020)
Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova, Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, Michelle Peng, Denise Williams, John R Ainsworth, Andrew R Webster, Bart P Leroy, Anthony T Moore, Elfriede De Baere
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Scientific reports 10 (1) (2020)