The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Jacquelyn Bond, Emma Roberts, Kelly Springell et al. · Nature Genetics · 2005 · 567 citations

Life Sciences, Molecular Genetics, Neuroscience +6

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield et al. · Nature Genetics · 2010 · 286 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire et al. · The American Journal of Human Genetics · 2003 · 180 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Emma Roberts · Journal of Medical Genetics · 2002 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Leanne Moynihan, Andrew P. Jackson, Emma Roberts et al. · The American Journal of Human Genetics · 2000 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11