The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes

A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation

(2014) Chun-Ting Chen et al.   CURRENT BIOLOGY

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

(2014) Christel Thauvin-Robinet et al.   NATURE GENETICS

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

(2014) Carol-Anne Martin et al.   NATURE GENETICS

Identification and validation of loss of function variants in clinical contexts

(2013) Francesco Lescai et al.   Molecular Genetics & Genomic Medicine

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

(2012) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Centrosome in Cells and Organisms

(2012) M. Bornens   SCIENCE

On the inscrutable role of Inscuteable: structural basis and functional implications for the competitive binding of NuMA and Inscuteable to LGN

(2012) M. Mapelli et al.   Open Biology

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

(2011) Mehmet Bakircioglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary cilia and organogenesis: is Hedgehog the only sculptor?

(2011) Evangelia Tasouri et al.   CELL AND TISSUE RESEARCH

The cilia protein IFT88 is required for spindle orientation in mitosis

(2011) Benedicte Delaval et al.   NATURE CELL BIOLOGY

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

(2010) Gaëlle Friocourt et al.   ACTA NEUROPATHOLOGICA

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A role for central spindle proteins in cilia structure and function

(2010) Katherine R. Smith et al.   Cytoskeleton

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Murine CENP-F Regulates Centrosomal Microtubule Nucleation and Interacts with Hook2 at the Centrosome

(2009) Katherine L. Moynihan et al.   MOLECULAR BIOLOGY OF THE CELL

Asymmetric centrosome inheritance maintains neural progenitors in the neocortex

(2009) Xiaoqun Wang et al.   NATURE

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

CMF1–Rb interaction promotes myogenesis in avian skeletal myoblasts

(2008) J. Brian Robertson et al.   DEVELOPMENTAL DYNAMICS

Murine CENPF interacts with syntaxin 4 in the regulation of vesicular transport

(2008) R. D. Pooley et al.   JOURNAL OF CELL SCIENCE

Ectopic Notch Activation in Developing Podocytes Causes Glomerulosclerosis

(2008) A. M. Waters et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE

Genotypes and phenotypes of Joubert syndrome and related disorders

(2007) Enza Maria Valente et al.   European Journal of Medical Genetics