Shaheen, Ranad

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

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov and Clostridium saccharobutylicum sp. nov

Keis, S., Shaheen, R., & Jones, D. T. (2001) · INTERNATIONAL JOURNAL OF SYSTEMATIC AND EVOLUTIONARY MICROBIOLOGY

Clostridium difficile and Clostridium perfringens researchMicrobial Metabolic Engineering and Bioproduction

Cited by 192

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 168

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

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., et al. (2020) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 76

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