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Chromosomal microarray versus karyotyping for prenatal diagnosis
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
Common genetic variants, acting additively, are a major source of risk for autism
Characterizing genetic variants for clinical action
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
