Knight, Samantha J L

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 658

The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance

Mortensen, M., Soilleux, E. J., Djordjevic, G., Tripp, R., Lutteropp, M., Sadighi-Akha, E., Stranks, A. J., Glanville, J., Knight, S., W. Jacobsen, S.-E., et al. (2011) · Journal of Experimental Medicine

Hematopoietic Stem Cell TransplantationAutophagy in Disease and Therapy

Cited by 657

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 582

Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 297

Origins of the fragile X syndrome mutation.

Hirst, M. C., Knight, S. J., Christodoulou, Z., Grewal, P. K., Fryns, J. P., & Davies, K. E. (1993) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 53