MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Melanie Manning, Louanne Hudgins · Genetics in Medicine · 2010 · 667 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Andrew P. Jackson, Helen Eastwood, Sandra Bell et al. · The American Journal of Human Genetics · 2002 · 474 citations · Full text

Medicine, Neurobiology, Neuroscience +7

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

Stephen Ashwal, David Michelson, Lauren L. Plawner et al. · Neurology · 2009 · 280 citations · Full text

Medicine, Child Health, Pediatrics +17

Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

Heidemarie Neitzel, Luitgard M. Neumann, Detlev Schindler et al. · The American Journal of Human Genetics · 2002 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

Anna Genin, Julie Désir, Nelle Lambert et al. · Human Molecular Genetics · 2012 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17