Beaudet, Arthur L.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 138

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski, P., Schaaf, C. P., Person, R. E., Gibson, I. B., Xia, Z., Mahadevan, S., Wiszniewska, J., Bacino, C. A., Lalani, S., Potocki, L., et al. (2010) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 134

Mice Homozygous for the L250T Mutation in the α7 Nicotinic Acetylcholine Receptor Show Increased Neuronal Apoptosis and Die Within 1 Day of Birth

Orr‐Urtreger, A., Broide, R. S., Kasten, M. R., Dang, H., Dani, J. A., Beaudet, A. L., & Patrick, J. W. (2000) · Journal of Neurochemistry

Nicotinic Acetylcholine Receptors StudyNeuroscience and Neuropharmacology Research

Cited by 129

Autism: highly heritable but not inherited

Beaudet, A. L. (2007) · Nature Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 100

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone, P. M., Campbell, I. M., Baggett, B. C., Soens, Z. T., Rao, M. M., Hixson, P. M., Patel, A., Bi, W., Cheung, S. W., Lalani, S. R., et al. (2013) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 69

Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q 11.2, Specifically Breakpoints 1 to 2

Chaste, P., Sanders, S. J., Mohan, K. N., Klei, L., Song, Y., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno‐De‐Luca, D., et al. (2014) · Autism Research

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 61

Influence of Guanine Nucleotides and Elongation Factors on Interaction of Release Factors with the Ribosome

Tate, W. P., Beaudet, A. L., & Caskey, C. T. (1973) · Proceedings of the National Academy of Sciences

RNA and protein synthesis mechanismsRNA modifications and cancer

Cited by 42

Preventable Forms of Autism?

Beaudet, A. L. (2012) · Science

Autism Spectrum Disorder ResearchMetabolism and Genetic Disorders

Cited by 24