Moeschler, John B.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., et al. (2009) · Proceedings of the National Academy of Sciences

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Genetic Evaluation of Intellectual Disabilities

Moeschler, J. B. (2008) · Seminars in Pediatric Neurology

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 87