H. Hijazi

F. Alkuraya, Arif O. Khan, M. Aldahmesh, 2012, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

F. Alkuraya, E. Faqeih, A. Alazami, 2015, Journal of Medical Genetics.

Mutations in ALDH1A3 cause microphthalmia

M. Aldahmesh, H. Hijazi, A. Khan, 2013, Clinical genetics.

TLE6 mutation causes the earliest known human embryonic lethality

F. Alkuraya, A. Alazami, S. Coskun, 2015, Genome Biology.

Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1-related Phenotype

F. Alkuraya, Arif O. Khan, Jawahir Y Mohamed, 2014, Ophthalmic genetics.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

J. Lupski, K. Woodward, Vahid Bahrambeigi, 2019, Genome Medicine.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

TLE6 mutation causes the earliest known human embryonic lethality

F. Alkuraya, A. Alazami, S. Coskun, 2015, Genome Biology.

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Tariq Ahmad Masoodi, F. Alkuraya, A. Alazami, 2013, Journal of Medical Genetics.

Molecular characterization of Joubert syndrome in Saudi Arabia

F. Alkuraya, A. Alazami, Arif O. Khan, 2012, Human mutation.

Mutations in LRPAP1 are associated with severe myopia in humans.

T. Reinheckel, F. Alkuraya, S. Anazi, 2013, American journal of human genetics.

Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

H. Hassan, M. Mukhtar, H. Hijazi, 2015, Clinical genetics.

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Fowzan S Alkuraya, F. Alkuraya, Arif O. Khan, 2012, Genetics in Medicine.

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome

F. Alkuraya, A. Alazami, Abdulrahman A Aldeeri, 2014, Clinical genetics.

Homozygous truncation of SIX6 causes complex microphthalmia in humans

F. Alkuraya, M. Aldahmesh, H. Hijazi, 2013, Clinical genetics.

Mutations in ALDH1A3 cause microphthalmia

F. Alkuraya, H. Hijazi, Mohammed A. Aldahmesh, 2013, Clinical genetics.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

M. Temsah, F. Alkuraya, Y. Xiong, 2015, Cell reports.