Savage, Sarah

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 580

Cognitive and language skills in adults with autism: a 40‐year follow‐up

Howlin, P., Savage, S., Moss, P., Tempier, A., & Rutter, M. (2014) · Journal of Child Psychology and Psychiatry

Autism Spectrum Disorder ResearchDown syndrome and intellectual disability research

Cited by 255

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., & Oetting, W. S. (2003) · The American Journal of Human Genetics

melanin and skin pigmentationGenetic and rare skin diseases.

Cited by 98

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

Wiśniowiecka‐Kowalnik, B., Nesteruk, M., Peters, S. U., Xia, Z., Cooper, M. L., Savage, S., Amato, R. S., Bader, P., Browning, M. F., Haun, C. L., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 82