Shamseldin, Hanan E.

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

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Shamseldin, H. E., Alshammari, M., Al-Sheddi, T., Salih, M. A., Alkhalidi, H., Kentab, A., Repetto, G. M., Hashem, M., & Alkuraya, F. S. (2012) · Journal of Medical Genetics

Mitochondrial Function and PathologyGenomics and Rare Diseases

Cited by 182

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

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 31

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

GZF1 mutations expand the genetic heterogeneity of Larsen syndrome

Patel, N., Shamseldin, H. E., Sakati, N., Khan, A. O., Softa, A., Al-Fadhli, F. M., Hashem, M., Abdulwahab, F. M., Alshidi, T., Alomar, R., et al. (2017) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 21