Alhashem, Amal

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, A. M., Patel, N., Shamseldin, H. E., Anazi, S., Al-Dosari, M. S., Alzahrani, F., Hijazi, H., Alshammari, M., Aldahmesh, M. A., Salih, M. A., et al. (2015) · Cell Reports

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 465

Expanding the genetic heterogeneity of intellectual disability

Anazi, S., Maddirevula, S., Salpietro, V., Asi, Y. T., Alsahli, S., Alhashem, A., Shamseldin, H. E., AlZahrani, F., Patel, N., Ibrahim, N., et al. (2017) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 160

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Alazami, A. M., Al-Qattan, S. M., Faqeih, E., Alhashem, A., Alshammari, M., Alzahrani, F., Al-Dosari, M. S., Patel, N., Alsagheir, A., Binabbas, B., et al. (2016) · Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 110

Severe CNS involvement in WWOX mutations: Description of five new cases

Tabarki, B., AlHashem, A., AlShahwan, S., Alkuraya, F. S., Gedela, S., & Zuccoli, G. (2015) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 34

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