Eyaid, Wafaa

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics

Genetic and Kidney Cyst DiseasesFetal and Pediatric Neurological Disorders

Cited by 408

LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

Cited by 171

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Castro, C. N., Rosenzwajg, M., Carapito, R., Shahrooei, M., Konantz, M., Khan, A., Miao, Z., Groß, M., Tranchant, T., Radosavljevic, M., et al. (2020) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAutoimmune and Inflammatory Disorders Research

Cited by 91

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family

Sheereen, A., Alaamery, M., Bawazeer, S., Al Yafee, Y., Massadeh, S., & Eyaid, W. (2017) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 29

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Alshenaifi, J., Ewida, N., Anazi, S., Shamseldin, H. E., Patel, N., Maddirevula, S., Al‐Sheddi, T., Alomar, R., Alobeid, E., Ibrahim, N., et al. (2019) · Clinical Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 23